Prof. F. Baas PhD publications

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Publications Prof. PhD F. Baas

Position
Full Professor
Main activities
Patient care, Research
Specialisation
Human Genetics
Focus of research
  • Genetics
  • DNA diagnostics
  • Neurological disorders

2020

  • den Heijer Jonas M., Cullen Valerie C., Quadri Marialuisa, Schmitz Arnoud, Hilt Dana C., Lansbury Peter, Berendse Henk W., van de Berg Wilma D. J., de Bie Rob M. A., Boertien Jeffrey M., Boon Agnita J. W., Contarino M. Fiorella, van Hilten Jacobus J., Hoff Jorrit I., van Mierlo Tom, Munts Alex G., van der Plas Anne A., Ponsen Mirthe M., Baas Frank, Majoor-Krakauer Danielle, Bonifati Vincenzo, van Laar Teus, Groeneveld Geert J. A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands. Movement disorders 2020;35 (9):1667-1674 [PubMed]
  • Achour Ahlem, Koopmann Tamara, Castel Rob, Santen Gijs W. E., den Hollander Nicolette, Knijnenburg Jeroen, Ruivenkamp Claudia A. L., Arkesteijn Sandra G. J., ter Huurne Jeanet, Bisoen Sharda, Verschuren Maaike, Vijfhuizen Linda, Schaap Rianne, Grimbergen Anneliese, Slomp Jennichjen, Traeger-Synodinos Joanne, Vrettou Christina, Pissard Serge, Galacteros Frederic, Baas Frank, Harteveld Cornelis L. A new gene associated with a b-thalassemia phenotype: The observation of variants in SUPT5H Blood 2020;136 (15):1789-1793 [PubMed]
  • van den Akker Erik B., Makrodimitris Stavros, Hulsman Marc, Brugman Martijn H., Nikolic Tatjana, Bradley Ted, Waisfisz Quinten, Baas Frank, Jakobs Marja E., de Jong Daphne, Slagboom P. Eline, Staal Frank J. T., Reinders Marcel J. T., Holstege Henne Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian Leukemia 2020 [PubMed]
  • Bouma Marga J., Orlova Valeria, van den Hil Francijna E., Mager Hans-Jurgen, Baas Frank, de Knijff Peter, Mummery Christine L., Mikkers Harald, Freund Christian Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2 Stem cell research 2020;46 [PubMed]
  • Gravesteijn Gido, Dauwerse Johannes G., Overzier Maurice, Brouwer Gwendolyn, Hegeman Ingrid, Mulder Aat A., Baas Frank, Kruit Mark C., Terwindt Gisela M., van Duinen Sjoerd G., Jost Carolina R., Aartsma-Rus Annemieke, Lesnik Oberstein Saskia A. J., Rutten Julie W. Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients Human molecular genetics 2020;29 (11):1853-1863 [PubMed]
  • Appelhof Bart, Wagner Matias, Hoefele Julia, Heinze Anja, Roser Timo, Koch-Hogrebe Margarete, Roosendaal Stefan D., Dehghani Mohammadreza, Mehrjardi Mohammad Yahya Vahidi, Torti Erin, Houlden Henry, Maroofian Reza, Rajabi Farrah, Sticht Heinrich, Baas Frank, Wieczorek Dagmar, Jamra Rami Abou Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 European journal of human genetics 2020 [PubMed]
  • van Dijk Tessa, Barth Peter, Baas Frank, Reneman Liesbeth, Poll-The Bwee Tien Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia Neuropediatrics 2020 [PubMed]

2019

  • Michailidou Iliana Complement in multiple sclerosis 2019. 215p. ISBN 9789463750837. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas Frank; Co-supervisors: Fluiter K. , Ramaglia Valeria)
  • Stenvers Dirk Jan, Jongejan Aldo, Atiqi Sadaf, Vreijling Jeroen P., Limonard Eelkje J., Endert Erik, Baas Frank, Moerland Perry D., Fliers Eric, Kalsbeek Andries, Bisschop Peter H. Diurnal rhythms in the white adipose tissue transcriptome are disturbed in obese individuals with type 2 diabetes compared with lean control individuals Diabetologia 2019 [PubMed]
  • Tao Feifei, Beecham Gary W., Rebelo Adriana P., Blanton Susan H., Moran John J., Lopez-Anido Camila, Svaren John, Abreu Lisa, Rizzo Devon, Kirk Callyn A., Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A., Herrmann David N., Day John W., Sumner Charlotte J., Lloyd Thomas E., Li Jun, Yum Sabrina W., Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S., Reilly Mary M., Shy Michael E., Züchner Stephan Modifier gene candidates in charcot-marie-tooth disease type 1A: A case-only genome-wide association study Journal of neuromuscular diseases 2019;6 (2):201-211 [PubMed]
  • Pollastro Sabrina, Klarenbeek Paul L., Doorenspleet Marieke E., van Schaik Barbera D. C., Esveldt Rebecca E. E., Thurlings Rogier M., Boumans Maria J. H., Gerlag Danielle M., Tak Paul P., Vos Koen, Baas Frank, van Kampen Antoine H. C., de Vries Niek Non-response to rituximab therapy in rheumatoid arthritis is associated with incomplete disruption of the B cell receptor repertoire Annals of the rheumatic diseases 2019;78 (10):1339-1345 [PubMed]
  • Tam Oliver H., Rozhkov Nikolay V., Shaw Regina, Kim Duyang, Hubbard Isabel, Fennessey Samantha, Propp Nadia, Phatnani Hemali, Kwan Justin, Sareen Dhruv, Broach James R., Simmons Zachary, Arcila-Londono Ximena, Lee Edward B., van Deerlin Vivianna M., Shneider Neil A., Fraenkel Ernest, Ostrow Lyle W., Baas Frank, Zaitlen Noah, Berry James D., Malaspina Andrea, Fratta Pietro, Cox Gregory A., Thompson Leslie M., Finkbeiner Steve, Dardiotis Efthimios, Miller Timothy M., Chandran Siddharthan, Pal Suvankar, Hornstein Eran, MacGowan Daniel J., Heiman-Patterson Terry, Hammell Molly G., Patsopoulos Nikolaos.A., Butovsky Oleg, Dubnau Joshua, Nath Avindra, Bowser Robert, Harms Matt, Aronica Eleonora, Poss Mary, Phillips-Cremins Jennifer, Crary John, Atassi Nazem, Lange Dale J., Adams Darius J., Stefanis Leonidas, Gotkine Marc, Baloh Robert, Fagegaltier Delphine, Harris Brent T., Ostrow Lyle W., Phatnani Hemali, Ravits John Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia Cell reports 2019;29 (5):1164-1177.e5 [PubMed]
  • Tao Feifei, Beecham Gary W., Rebelo Adriana P., Svaren John, Blanton Susan H., Moran John J., Lopez-Anido Camila, Morrow Jasper M., Abreu Lisa, Rizzo Devon, Kirk Callyn A., Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A., Herrmann David N., Day John W., Sumner Charlotte J., Lloyd Thomas E., Li Jun, Yum Sabrina W., Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S., Reilly Mary M., Shy Michael E., Züchner Stephan Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A Annals of neurology 2019;85 (3):316-330 [PubMed]

2018

  • de Majo Martina, Topp Simon D., Smith Bradley N., Nishimura Agnes L., Chen Han-Jou, Gkazi Athina Soragia, Miller Jack, Wong Chun Hao, Vance Caroline, Baas Frank, ten Asbroek Anneloor L. M. A., Kenna Kevin P., Ticozzi Nicola, Redondo Alberto Garcia, Esteban-Pérez Jesús, Tiloca Cinzia, Verde Federico, Duga Stefano, Morrison Karen E., Shaw Pamela J., Kirby Janine, Turner Martin R., Talbot Kevin, Hardiman Orla, Glass Jonathan D., de Belleroche Jacqueline, Gellera Cinzia, Ratti Antonia, Al-Chalabi Ammar, Brown Robert H., Silani Vincenzo, Landers John E., Shaw Christopher E. ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function Neurobiology of aging 2018;71:266.e1-266.e10 [PubMed]
  • van Dijk Tessa, Vermeij Jan-Dirk, van Koningsbruggen Silvana, Lakeman Phillis, Baas Frank, Poll-The Bwee Tien A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia Journal of inherited metabolic disease 2018;41 (5):897-898 [PubMed]
  • van Dijk Tessa, Ferdinandusse Sacha, Ruiter Jos P. N., Alders Mariëlle, Mathijssen Inge B., Parboosingh Jillian S., Innes A. Micheil, Meijers-Heijboer Hanne, Poll-The Bwee Tien, Bernier Francois P., Wanders Ronald J. A., Lamont Ryan E., Baas Frank Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis European journal of human genetics 2018;26 (12):1752-1758 [PubMed]
  • Nicolas Aude, Kenna Kevin P., Renton Alan E., Ticozzi Nicola, Faghri Faraz, Chia Ruth, Dominov Janice A., Kenna Brendan J., Nalls Mike A., Keagle Pamela, Rivera Alberto M., van Rheenen Wouter, Murphy Natalie A., van Vugt Joke J. F. A., Geiger Joshua T., van der Spek Rick A., Pliner Hannah A., Smith Bradley N., Marangi Giuseppe, Topp Simon D., Abramzon Yevgeniya, Gkazi Athina Soragia, Eicher John D., Kenna Aoife, Logullo Francesco O., Simone Isabella L., Logroscino Giancarlo, Salvi Fabrizio, Bartolomei Ilaria, Borghero Giuseppe, Murru Maria Rita, Costantino Emanuela, Pani Carla, Puddu Roberta, Caredda Carla, Piras Valeria, Tranquilli Stefania, Cuccu Stefania, Corongiu Daniela, Melis Maurizio, Milia Antonio, Marrosu Francesco, Marrosu Maria Giovanna, Floris Gianluca, Cannas Antonino, Capasso Margherita, Baas Frank, ten Asbroek Anneloor L. M. A., Weber Markus Genome-wide Analyses Identify KIF5A as a Novel ALS Gene Neuron 2018;97 (6):1268-1283.e6 [PubMed]
  • Weterman Marian A. J., Kuo Molly, Kenter Susan B., Gordillo Sara, Karjosukarso Dyah W., Takase Ryuichi, Bronk Marieke, Oprescu Stephanie, van Ruissen Fred, Witteveen Ron J. W., Bienfait Henriette M. E., Breuning Martijn, Verhamme Camiel, Hou Ya-Ming, de Visser Marianne, Antonellis Anthony, Baas Frank Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities Human molecular genetics 2018;27 (23):4036-4050 [PubMed]
  • Both Joeri Identification and characterization of candidate cancer genes in osteosarcoma 2018. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: Hulsebos T. J. M.)
  • Musters Anne, Klarenbeek Paul L., Doorenspleet Marieke E., Balzaretti Giulia, Esveldt Rebecca E. E., van Schaik Barbera D. C., Jongejan Aldo, Tas Sander W., van Kampen Antoine H. C., Baas Frank, de Vries Niek In rheumatoid arthritis, synovitis at different inflammatory sites is dominated by shared but patient-specific T cell clones Journal of immunology (Baltimore, Md. 2018;201 (2):417-422 [PubMed]
  • van Dijk Tessa Pontocerebellar hypoplasia: Genes and phenotypes 2018. ISBN 9789462999008. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Baas F., Poll-The B. T.; Co-supervisor: Meijers-Heijboer E. J.)
  • Michailidou Iliana, Jongejan Aldo, Vreijling Jeroen P, Georgakopoulou Theodosia, de Wissel Marit B, Wolterman Ruud A, Ruizendaal Patrick, Klar-Mohamad Ngaisah, Grootemaat Anita E, Picavet Daisy I, Kumar Vinod, van Kooten Cees, Woodruff Trent M, Morgan B Paul, van der Wel Nicole N, Ramaglia Valeria, Fluiter Kees, Baas Frank Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis Acta neuropathologica communications 2018;6 (1):36 [PubMed]
  • Kloek A. T., Khan H. N., Valls Seron M., Jongejan A., Zwinderman A. H., Baas F., van der Ende A., van de Beek D., Ferwerda B., Brouwer M. C. Variation in coagulation and fibrinolysis genes evaluated for their contribution to cerebrovascular complications in adults with bacterial meningitis in the Netherlands Journal of infection 2018;77 (1):54-59 [PubMed]
  • van Dijk Tessa, Baas Frank, Barth Peter G., Poll-The Bwee Tien What's new in pontocerebellar hypoplasia? An update on genes and subtypes Orphanet journal of rare diseases 2018;13 (1) [PubMed]

2017

  • van Dijk Tessa, Barth Peter, Reneman Liesbeth, Appelhof Bart, Baas Frank, Poll-The Bwee Tien A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's American journal of medical genetics. Part A 2017;173A (1):207-212 [PubMed]
  • Chatzispyrou Iliana A., Alders Marielle, Guerrero-Castillo Sergio, Zapata Perez Ruben, Haagmans Martin A., Mouchiroud Laurent, Koster Janet, Ofman Rob, Baas Frank, Waterham Hans R., Spelbrink Johannes N., Auwerx Johan, Mannens Marcel M., Houtkooper Riekelt H., Plomp Astrid S. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome Human molecular genetics 2017;26 (13):2541-2550 [PubMed]
  • Lardelli Rea M., Schaffer Ashleigh E., Eggens Veerle R. C., Zaki Maha S., Grainger Stephanie, Sathe Shashank, van Nostrand Eric L., Schlachetzki Zinayida, Rosti Basak, Akizu Naiara, Scott Eric, Silhavy Jennifer L., Heckman Laura Dean, Rosti Rasim Ozgur, Dikoglu Esra, Gregor Anne, Guemez-Gamboa Alicia, Musaev Damir, Mande Rohit, Widjaja Ari, Shaw Tim L., Markmiller Sebastian, Marin-Valencia Isaac, Davies Justin H., de Meirleir Linda, Kayserili Hulya, Altunoglu Umut, Freckmann Mary Louise, Warwick Linda, Chitayat David, Blaser Susan, Çağlayan Ahmet Okay, Bilguvar Kaya, Per Huseyin, Fagerberg Christina, Christesen Henrik T., Kibaek Maria, Aldinger Kimberly A., Manchester David, Matsumoto Naomichi, Muramatsu Kazuhiro, Saitsu Hirotomo, Shiina Masaaki, Ogata Kazuhiro, Foulds Nicola, Dobyns William B., Chi Neil C., Traver David, Spaccini Luigina, Bova Stefania Maria, Gabriel Stacey B., Gunel Murat, Valente Enza Maria, Nassogne Marie-Cecile, Bennett Eric J., Yeo Gene W., Baas Frank, Lykke-Andersen Jens, Gleeson Joseph G. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing Nature genetics 2017;49 (3):457-464 [PubMed]
  • Michailidou Iliana, Naessens Daphne M. P., Hametner Simon, Guldenaar Willemijn, Kooi Evert-Jan, Geurts Jeroen J. G., Baas Frank, Lassmann Hans, Ramaglia Valeria Complement C3 on microglial clusters in multiple sclerosis occur in chronic but not acute disease: Implication for disease pathogenesis Glia 2017;65 (2):264-277 [PubMed]
  • Bahia El Idrissi Nawal Complement in neuroinflammation: Studies in leprosy and Amyotrophic Lateral Sclerosis 2017. 275p. ISBN 9789462995079. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisors: Das P. K., Ramaglia V.)
  • Barth P. G., Aronica E., Fox S., Fluiter K., Weterman M. A. J., Poretti A., Miller D. C., Boltshauser E., Harding B., Santi M., Baas F. Deregulated expression of EZH2 in congenital brainstem disconnection Neuropathology and applied neurobiology 2017;43 (4):358-365 [PubMed]
  • Tak Paul P., Doorenspleet Marieke E., de Hair Maria J. H., Klarenbeek Paul L., van Beers-Tas Marian H., van Kampen Antoine H. C., van Schaardenburg Dirkjan, Gerlag Danielle M., Baas Frank, de Vries Niek Dominant B cell receptor clones in peripheral blood predict onset of arthritis in individuals at risk for rheumatoid arthritis Annals of the rheumatic diseases 2017;76 (11):1924-1930 [PubMed]
  • Bahia El Idrissi Nawal, Iyer Anand M., Ramaglia Valeria, Rosa Patricia S., Soares Cleverson T., Baas Frank, Das Pranab K. In Situ complement activation and T-cell immunity in leprosy spectrum: An immunohistological study on leprosy lesional skin PLoS ONE 2017;12 (5):e0177815 [PubMed]
  • Mathijssen Inge B., Florijn Ralph J., van den Born L. Ingeborgh, Zekveld-Vroon Renate C., ten Brink Jacoline B., Plomp Astrid S., Baas Frank, Meijers-Heijboer Hanne, Bergen Arthur A. B., van Schooneveld Mary J. LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability Retina (Philadelphia, Pa.) 2017;37 (1):161-172 [PubMed]
  • Hakonen Johanna E., Sorrentino Vincenzo, Avagliano Trezza Rossella, de Wissel Marit B., van den Berg Marlene, Bleijlevens Boris, van Ruissen Fred, Distel Ben, Baas Frank, Zelcer Noam, Weterman Marian A. J. LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P Human molecular genetics 2017;26 (11):2034-2041 [PubMed]
  • Kasanmoentalib E. Soemirien, Valls Seron Mercedes, Ferwerda Bart, Tanck Michael W., Zwinderman Aeilko H., Baas Frank, van der Ende Arie, Brouwer Matthijs C., van de Beek Diederik Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis Journal of neuroinflammation 2017;14 (1):2 [PubMed]
  • Kasanmoentalib E. Soemirien, Valls Seron Mercedes, Ferwerda Bart, Tanck Michael W., Zwinderman Aeilko H., Baas Frank, van der Ende Arie, Schwaeble William J., Brouwer Matthijs C., van de Beek Diederik Mannose-binding lectin-associated serine protease 2 (MASP-2) contributes to poor disease outcome in humans and mice with pneumococcal meningitis (vol 14, pg 9, 2017) Journal of neuroinflammation 2017;14 (1):77 [PubMed]
  • Smith Bradley N., Topp Simon D., Fallini Claudia, Shibata Hideki, Chen Han-Jou, Troakes Claire, King Andrew, Ticozzi Nicola, Kenna Kevin P., Soragia-Gkazi Athina, Miller Jack W., Sato Akane, Dias Diana Marques, Jeon Maryangel, Vance Caroline, Wong Chun Hao, de Majo Martina, Kattuah Wejdan, Mitchell Jacqueline C., Scotter Emma L., Parkin Nicholas W., Sapp Peter C., Nolan Matthew, Nestor Peter J., Simpson Michael, Weale Michael, Lek Monkel, Baas Frank, Vianney de Jong J. M., ten Asbroek Anneloor L. M. A., Redondo Alberto Garcia, Esteban-Pérez Jesús, Tiloca Cinzia, Verde Federico, Duga Stefano, Leigh Nigel, Pall Hardev, Morrison Karen E., Al-Chalabi Ammar, Shaw Pamela J., Kirby Janine, Turner Martin R., Talbot Kevin, Hardiman Orla, Glass Jonathan D., de Belleroche Jacqueline, Maki Masatoshi, Moss Stephen E., Miller Christopher, Gellera Cinzia, Ratti Antonia, Al-Sarraj Safa, Brown Robert H., Silani Vincenzo, Landers John E., Shaw Christopher E. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis Science translational medicine 2017;9 (388):eaad9157 [PubMed]
  • Korucuoglu Ozlem, Gladwin Thomas E., Baas Frank, Mocking Roel J. T., Ruhé Henricus G., Groot Paul F. C., Wiers Reinout W. Neural response to alcohol taste cues in youth: effects of the OPRM1 gene Addiction biology 2017;22 (6):1562-1575 [PubMed]
  • van Groningen Tim, Koster Jan, Valentijn Linda J., Zwijnenburg Danny A., Akogul Nurdan, Hasselt Nancy E., Broekmans Marloes, Haneveld Franciska, Nowakowska Natalia E., Bras Johannes, van Noesel Carel J. M., Jongejan Aldo, van Kampen Antoine H., Koster Linda, Baas Frank, van Dijk-Kerkhoven Lianne, Huizer-Smit Margriet, Lecca Maria C., Chan Alvin, Lakeman Arjan, Molenaar Piet, Volckmann Richard, Westerhout Ellen M., Hamdi Mohamed, van Sluis Peter G., Ebus Marli E., Molenaar Jan J., Tytgat Godelieve A., Westerman Bart A., van Nes Johan, Versteeg Rogier Neuroblastoma is composed of two super-enhancer-associated differentiation states Nature genetics 2017;49 (8):1261-1266 [PubMed]
  • van Dijk Tessa, Rudnik-Schöneborn Sabine, Senderek Jan, Hajmousa Ghazaleh, Mei Hailiang, Dusl Marina, Aronica Eleonora, Barth Peter, Baas Frank Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family Brain 2017;140 (8):E45-+ [PubMed]
  • Doorenspleet M. E., Westera L., Peters C. P., Hakvoort T. B. M., Esveldt R. E., Vogels E., van Kampen A. H. C., Baas F., Buskens C., Bemelman W. A., D'Haens G., Ponsioen C. Y., te Velde A. A., de Vries N. [=Niek], van den Brink G. R. Profoundly Expanded T-cell Clones in the Inflamed and Uninflamed Intestine of Patients With Crohn's Disease Journal of Crohn s & colitis 2017;11 (7):831-839 [PubMed]
  • van Paassen Barbara W., Bronk Marieke, Verhamme Camiel, van Ruissen Fred, Baas Frank, van Spaendonck-Zwarts Karin Y., de Visser Marianne Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations Journal of the peripheral nervous system 2017;22 (4):464-467 [PubMed]
  • van Dijk Tessa, van Ruissen Fred, Jaeger Bregje, Rodenburg Richard J., Tamminga Saskia, van Maarle Merel, Baas Frank, Wolf Nicole I., Poll-The Bwee Tien RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? JIMD reports 2017;33:87-92 [PubMed]
  • Doorenspleet Marieke E. Standing out of the crowd: Adaptive immune cells in the pathogenesis and prediction of rheumatoid arthritis and IgG4-related disease 2017. 194p. ISBN 9789462336278. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Tak P. P., Baas F.; Co-supervisors: de Vries N., Beuers U. H. W.)
  • van der Harg Juditha M. Tau phosphorylation as adaptive response to metabolic dysfunction in the brain 2017. 153p. ISBN 9789462995772. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas Frank; Co-supervisor: Scheper W.)

2016

  • Aerts Marjolein B., Weterman Marian A. J., Quadri Marialuisa, Schelhaas H. Jurgen, Bloem Bastiaan R., Esselink Rianne A., Baas Frank, Bonifati Vincenzo, van de Warrenburg Bart P. A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease Annals of clinical and translational neurology 2016;3 (2):146-149 [PubMed]
  • Flex Elisabetta, Niceta Marcello, Cecchetti Serena, Thiffault Isabelle, Au Margaret G., Capuano Alessandro, Piermarini Emanuela, Ivanova Anna A., Francis Joshua W., Chillemi Giovanni, Chandramouli Balasubramanian, Carpentieri Giovanna, Haaxma Charlotte A., Ciolfi Andrea, Pizzi Simone, Douglas Ganka V., Levine Kara, Sferra Antonella, Dentici Maria Lisa, Pfundt Rolph R., Le Pichon Jean-Baptiste, Farrow Emily, Baas Frank, Piemonte Fiorella, Dallapiccola Bruno, Graham John M., Saunders Carol J., Bertini Enrico, Kahn Richard A., Koolen David A., Tartaglia Marco Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy American journal of human genetics 2016;99 (4):962-973 [PubMed]
  • Bahia El Idrissi Nawal, Bosch Sanne, Ramaglia Valeria, Aronica Eleonora, Baas Frank, Troost Dirk Complement activation at the motor end-plates in amyotrophic lateral sclerosis Journal of neuroinflammation 2016;13 (1):72 [PubMed]
  • Bahia El Idrissi Nawal, Hakobyan Svetlana, Ramaglia Valeria, Geluk Annemieke, Morgan B. Paul, Das Pranab Kumar, Baas Frank Complement activation in leprosy: a retrospective study shows elevated circulating terminal complement complex in reactional leprosy Clinical and experimental immunology 2016;184 (3):338-346 [PubMed]
  • Zhao Jing, Hakvoort Theodorus B. M., Willemsen A. Marcel, Jongejan Aldo, Sokolovic Milka, Bradley Edward J., de Boer Vincent C. J., Baas Frank, van Kampen Antoine H. C., Lamers Wouter H. Effect of Hyperglycemia on Gene Expression during Early Organogenesis in Mice PLoS ONE 2016;11 (7):e0158035 [PubMed]
  • Kuley Runa, Smith Hilde E., Janse Ingmar, Harders Frank L., Baas Frank, Schijlen Elio, Nabuurs-Franssen Marrigje H., Smits Mari A., Roest Hendrik I. J., Bossers Alex First Complete Genome Sequence of the Dutch Veterinary Coxiella burnetii Strain NL3262, Originating from the Largest Global Q Fever Outbreak, and Draft Genome Sequence of Its Epidemiologically Linked Chronic Human Isolate NLhu3345937 Genome announcements 2016;4 (2):e00245-16 [PubMed]
  • Doorenspleet Marieke E., Hubers Lowiek M., Culver Emma L., Maillette de Buy Wenniger Lucas J., Klarenbeek Paul L., Chapman Roger W., Baas Frank, van de Graaf Stan F., Verheij Joanne, van Gulik Thomas M., Barnes Eleanor, Beuers Ulrich, de Vries Niek Immunoglobulin G4(+) B-cell receptor clones distinguish immunoglobulin G 4-related disease from primary sclerosing cholangitis and biliary/pancreatic malignancies Hepatology (Baltimore, Md.) 2016;64 (2):501-507 [PubMed]
  • Kenna Kevin P., van Doormaal Perry T. C., Dekker Annelot M., Ticozzi Nicola, Kenna Brendan J., Diekstra Frank P., van Rheenen Wouter, van Eijk Kristel R., Jones Ashley R., Keagle Pamela, Shatunov Aleksey, Sproviero William, Smith Bradley N., van Es Michael A., Topp Simon D., Kenna Aoife, Miller Jack W., Fallini Claudia, Tiloca Cinzia, McLaughlin Russell L., Vance Caroline, Troakes Claire, Colombrita Claudia, Mora Gabriele, Calvo Andrea, Verde Federico, Al-Sarraj Safa, King Andrew, Calini Daniela, de Belleroche Jacqueline, Baas Frank, van der Kooi Anneke J., de Visser Marianne, ten Asbroek Anneloor L. M. A., Sapp Peter C., McKenna-Yasek Diane, Polak Meraida, Asress Seneshaw, Muñoz-Blanco José Luis, Strom Tim M., Meitinger Thomas, Morrison Karen E., Lauria Giuseppe, Williams Kelly L., Leigh P. Nigel, Nicholson Garth A., Blair Ian P., Leblond Claire S., Dion Patrick A., Rouleau Guy A. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis Nature genetics 2016;48 (9):1037-1042 [PubMed]
  • Both Joeri, Wu Thijs, ten Asbroek Anneloor L. M. A., Baas Frank, Hulsebos Theo J. M. Oncogenic Properties of Candidate Oncogenes in Chromosome Region 17p11.2p12 in Human Osteosarcoma Cytogenetic and genome research 2016;150 (1):52-59 [PubMed]
  • Eggens Veerle R. C. On the origin of pontocerebellar hypoplasia: Finding genes for a rare disease 2016. 151p. ISBN 9789462993563. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: Poll-The B. T.)
  • Verschure Derk O., Baas F., van Eck-Smit Berthe L. F., Somsen G. Aernout, Verberne Hein J. Polymorphism of SLC6A2 gene does not influence outcome of myocardial (123)I-mIBG scintigraphy in patients with chronic heart failure Journal of nuclear cardiology 2016;25 (3):900-906 [PubMed]
  • Schipper L. J., Raaphorst J., Aronica E., Baas F., de Haan R., de Visser M., Troost D. Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review Neuropathology and applied neurobiology 2016;42 (6):547-560 [PubMed]
  • Menke Leonie A., Engelen Marc, Alders Mariel, Odekerken Vincent J. J., Baas Frank, Cobben Jan M. Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder Journal of child neurology 2016;31 (14):1598-1601 [PubMed]
  • Hulsebos Theo J. M., Kenter Susan, Baas Frank, Nannenberg Eline A., Bleeker Fonnet E., van Minkelen Rick, van den Ouweland Ans M. W., Wesseling Pieter, Flucke Uta Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells Genes, chromosomes & cancer 2016;55 (4):350-354 [PubMed]
  • Valls Serón Mercedes, Ferwerda Bart, Engelen-Lee Jooyeon, Geldhoff Madelijn, Jaspers Valery, Zwinderman Aeilko H., Tanck Michael W., Baas Frank, van der Ende Arie, Brouwer Matthijs C., van de Beek Diederik V-akt murine thymoma viral oncogene homolog 3 (AKT3) contributes to poor disease outcome in humans and mice with pneumococcal meningitis Acta neuropathologica communications 2016;4 (1):50 [PubMed]
  • Ferwerda Bart, Valls Serón Mercedes, Jongejan Aldo, Zwinderman Aeilko H., Geldhoff Madelijn, van der Ende Arie, Baas Frank, Brouwer Matthijs C., van de Beek Diederik Variation of 46 Innate Immune Genes Evaluated for their Contribution in Pneumococcal Meningitis Susceptibility and Outcome EBioMedicine 2016;10:77-84 [PubMed]

2015

  • Beeldman Emma, van der Kooi Anneke J., de Visser Marianne, van Maarle Merel C., van Ruissen Fred, Baas Frank A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations Amyotrophic lateral sclerosis and frontotemporal degeneration 2015;16 (5-6):410-411 [PubMed]
  • Groen Justus L., Andrade Arturo, Ritz Katja, Jalalzadeh Hamid, Haagmans Martin, Bradley Ted E. J., Jongejan Aldo, Verbeek Dineke S., Nürnberg Peter, Denome Sylvia, Hennekam Raoul C. M., Lipscombe Diane, Baas Frank, Tijssen Marina A. J. CACNA1B mutation is linked to unique myoclonus-dystonia syndrome Human molecular genetics 2015;24 (4):987-993 [PubMed]
  • Remmerswaal Ester B. M., Klarenbeek Paul L., Alves Nuno L., Doorenspleet Marieke E., van Schaik Barbera D. C., Esveldt Rebecca E. E., Idu Mirza M., van Leeuwen Ester M. M., van der Bom-Baylon Nelly, van Kampen Antoine H. C., Koch Sven D., Pircher Hanspeter, Bemelman Frederike J., ten Brinke Anja, Baas Frank, ten Berge Ineke J. M., van Lier Rene A. W., de Vries Niek Clonal evolution of CD8+ T cell responses against latent viruses: relationship among phenotype, localization, and function Journal of virology 2015;89 (1):568-580 [PubMed]
  • Michailidou Iliana, Willems Janske G. P., Kooi Evert-Jan, van Eden Corbert, Gold Stefan M., Geurts Jeroen J. G., Baas Frank, Huitinga Inge, Ramaglia Valeria Complement C1q-C3-associated synaptic changes in multiple sclerosis hippocampus Annals of neurology 2015;77 (6):1007-1026 [PubMed]
  • Cirulli Elizabeth T., Lasseigne Brittany N., Petrovski Slavé, Sapp Peter C., Dion Patrick A., Leblond Claire S., Couthouis Julien, Lu Yi-Fan, Wang Quanli, Krueger Brian J., Ren Zhong, Keebler Jonathan, Han Yujun, Levy Shawn E., Boone Braden E., Wimbish Jack R., Waite Lindsay L., Jones Angela L., Carulli John P., Day-Williams Aaron G., Staropoli John F., Xin Winnie W., Chesi Alessandra, Raphael Alya R., McKenna-Yasek Diane, Cady Janet, de Jong J. M. B. Vianney, Kenna Kevin P., Smith Bradley N., Topp Simon, Miller Jack, Gkazi Athina, Al-Chalabi Ammar, van den Berg Leonard H., Veldink Jan, Silani Vincenzo, Ticozzi Nicola, Shaw Christopher E., Baloh Robert H., Appel Stanley, Simpson Ericka, Lagier-Tourenne Clotilde, Pulst Stefan M., Gibson Summer, Trojanowski John Q., Elman Lauren, McCluskey Leo, Grossman Murray, Baas Frank, ten Asbroek Anneloor L. M. A. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways Science 2015;347 (6229):1436-1441 [PubMed]
  • Tan-Sindhunata M. Brigita, Mathijssen Inge B., Smit Margriet, Baas Frank, de Vries Johanna I., van der Voorn J. Patrick, Kluijt Irma, Hagen Marleen A., Blom Eveline W., Sistermans Erik, Meijers-Heijboer Hanne, Waisfisz Quinten, Weiss Marjan M., Groffen Alexander J. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence European journal of human genetics 2015;23 (9):1151-1157 [PubMed]
  • Bahia El Idrissi Nawal, Das Pranab K., Fluiter Kees, Rosa Patricia S., Vreijling Jeroen, Troost Dirk, Morgan B. Paul, Baas Frank, Ramaglia Valeria M. leprae components induce nerve damage by complement activation: identification of lipoarabinomannan as the dominant complement activator Acta neuropathologica 2015;129 (5):653-667 [PubMed]
  • Aronica Eleonora, Baas Frank, Iyer Anand, ten Asbroek Anneloor L. M. A., Morello Giovanna, Cavallaro Sebastiano Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex Neurobiology of disease 2015;74:359-376 [PubMed]
  • Scoto Mariacristina, Rossor Alexander M., Harms Matthew B., Cirak Sebahattin, Calissano Mattia, Robb Stephanie, Manzur Adnan Y., Martínez Arroyo Amaia, Rodriguez Sanz Aida, Mansour Sahar, Fallon Penny, Hadjikoumi Irene, Klein Andrea, Yang Michele, de Visser Marianne, Overweg-Plandsoen W. C. G. Truus, Baas Frank, Taylor J. Paul, Benatar Michael, Connolly Anne M., Al-Lozi Muhammad T., Nixon John, de Goede Christian G. E. L., Foley A. Reghan, Mcwilliam Catherine, Pitt Matthew, Sewry Caroline, Phadke Rahul, Hafezparast Majid, Chong W. K. Kling, Mercuri Eugenio, Baloh Robert H., Reilly Mary M., Muntoni Francesco Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy Neurology 2015;84 (7):668-679 [PubMed]
  • Groen Justus L., Ritz Katja, Jalalzadeh Hamid, van der Salm Sandra M. A., Jongejan Aldo, Mook Olaf R., Haagmans Martin A., Zwinderman Aeilko H., Motazacker Mahdi M., Hennekam Raoul C., Baas Frank, Tijssen Marina A. J. RELN rare variants in myoclonus-dystonia Movement disorders 2015;30 (3):415-419 [PubMed]
  • Gomez-Sanchez Jose A., Carty Lucy, Iruarrizaga-Lejarreta Marta, Palomo-Irigoyen Marta, Varela-Rey Marta, Griffith Megan, Hantke Janina, Macias-Camara Nuria, Azkargorta Mikel, Aurrekoetxea Igor, de Juan Virginia Gutiérrez, Jefferies Harold B. J., Aspichueta Patricia, Elortza Félix, Aransay Ana M., Martínez-Chantar María L., Baas Frank, Mato José M., Mirsky Rhona, Woodhoo Ashwin, Jessen Kristján R. Schwann cell autophagy, myelinophagy, initiates myelin clearance from injured nerves Journal of cell biology 2015;210 (1):153-168 [PubMed]
  • Klarenbeek Paul L., Doorenspleet Marieke E., Esveldt Rebecca E. E., van Schaik Barbera D. C., Lardy Neubury, van Kampen Antoine H. C., Tak Paul P., Plenge Robert M., Baas Frank, de Bakker Paul I. W., de Vries Niek Somatic Variation of T-Cell Receptor Genes Strongly Associate with HLA Class Restriction PLoS ONE 2015;10 (10):e0140815 [PubMed]
  • Mook-Kanamori B. B., Valls Serón M., Geldhoff M., Havik S. R., van der Ende A., Baas F., van der Poll T., Meijers J. C. M., P Morgan B., Brouwer M. C., van de Beek D. Thrombin-activatable fibrinolysis inhibitor influences disease severity in humans and mice with pneumococcal meningitis Journal of thrombosis and haemostasis 2015;13 (11):2076-2086 [PubMed]

2014

  • Sprangers Mirjam A. G., Thong Melissa S. Y., Bartels Meike, Barsevick Andrea, Ordoñana Juan, Shi Qiuling, Wang Xin Shelley, Klepstad Pål, Wierenga Eddy A., Singh Jasvinder A., Sloan Jeff A., Abertnethy Amy P., Baas Frank, Barsevick Andrea M., Boomsma Dorret I., Bottomley Andrew, Brundage Michael, Cella David, Chauhan Cynthia, Cleeland Charles S., Coens Corneel, Dueck Amylou C., Frost Marlene H., Hall Per, Halyard Michele Y., van Laarhoven Hanneke W. M., Martin Nicholas G., Miaskowski Christine, Mosing Miriam, Movsas Benjamin, Oliveira Joao R., Patrick Donald L., Pedersen Nancy L., Raat Hein, Reeve Bryce, Stephen Ristvedt, Ropka Mary E., Schwartz Carolyn, Shi Quiling, Shinozaki Gen, Swaab Dick, Talwalkar Jayant, Thong Melissa, van Noorden Cornelis J. F., Veenhoven Ruut, Wagner Gert, Wierenga Eddy, Yang Ping, Zwinderman Ailko H. Biological pathways, candidate genes, and molecular markers associated with quality-of-life domains: an update Quality of life research 2014;23 (7):1997-2013 [PubMed]
  • Sta M., Cappaert N. L. M., Ramekers D., Ramaglia V., Wadman W. J., Baas F. C6 deficiency does not alter intrinsic regeneration speed after peripheral nerve crush injury Neuroscience research 2014;87:26-32 [PubMed]
  • Hantke Janina, Carty Lucy, Wagstaff Laura J., Turmaine Mark, Wilton Daniel K., Quintes Susanne, Koltzenburg Martin, Baas Frank, Mirsky Rhona, Jessen Kristján R. c-Jun activation in Schwann cells protects against loss of sensory axons in inherited neuropathy Brain 2014;137 (Part 11):2922-2937 [PubMed]
  • Schaffer Ashleigh E., Eggens Veerle R. C., Caglayan Ahmet Okay, Reuter Miriam S., Scott Eric, Coufal Nicole G., Silhavy Jennifer L., Xue Yuanchao, Kayserili Hulya, Yasuno Katsuhito, Rosti Rasim Ozgur, Abdellateef Mostafa, Caglar Caner, Kasher Paul R., Cazemier J. Leonie, Weterman Marian A., Cantagrel Vincent, Cai Na, Zweier Christiane, Altunoglu Umut, Satkin N. Bilge, Aktar Fesih, Tuysuz Beyhan, Yalcinkaya Cengiz, Caksen Huseyin, Bilguvar Kaya, Fu Xiang-Dong, Trotta Christopher R., Gabriel Stacey, Reis André, Gunel Murat, Baas Frank, Gleeson Joseph G. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration Cell 2014;157 (3):651-663 [PubMed]
  • Groen Justus L., Ritz Katja, Warner Tom T., Baas Frank, Tijssen Marina A. J. DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia Parkinsonism & related disorders 2014;20 (7):782-785 [PubMed]
  • Smith Bradley N., Ticozzi Nicola, Fallini Claudia, Gkazi Athina Soragia, Topp Simon, Kenna Kevin P., Scotter Emma L., Kost Jason, Keagle Pamela, Miller Jack W., Calini Daniela, Vance Caroline, Danielson Eric W., Troakes Claire, Tiloca Cinzia, Al-Sarraj Safa, Lewis Elizabeth A., King Andrew, Colombrita Claudia, Pensato Viviana, Castellotti Barbara, de Belleroche Jacqueline, Baas Frank, ten Asbroek Anneloor L. M. A., Sapp Peter C., McKenna-Yasek Diane, McLaughlin Russell L., Polak Meraida, Asress Seneshaw, Esteban-Pérez Jesús, Muñoz-Blanco José Luis, Simpson Michael, van Rheenen Wouter, Diekstra Frank P., Lauria Giuseppe, Duga Stefano, Corti Stefania, Cereda Cristina, Corrado Lucia, Sorarù Gianni, Morrison Karen E., Williams Kelly L., Nicholson Garth A., Blair Ian P., Dion Patrick A., Leblond Claire S., Rouleau Guy A., Hardiman Orla, Veldink Jan H., van den Berg Leonard H. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS Neuron 2014;84 (2):324-331 [PubMed]
  • Eggens Veerle Rc, Barth Peter G., Niermeijer Jikke-Mien F., Berg Jonathan N., Darin Niklas, Dixit Abhijit, Fluss Joel, Foulds Nicola, Fowler Darren, Hortobágyi Tibor, Jacques Thomas, King Mary D., Makrythanasis Periklis, Máté Adrienn, Nicoll James A. R., O'Rourke Declan, Price Sue, Williams Andrew N., Wilson Louise, Suri Mohnish, Sztriha Laszlo, Dijns-de Wissel Marit B., van Meegen Mia T., van Ruissen Fred, Aronica Eleonora, Troost Dirk, Majoie Charles Blm, Marquering Henk A., Poll-Thé Bwee Tien, Baas Frank EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Orphanet journal of rare diseases 2014;9 (1):23 [PubMed]
  • Both Joeri, Krijgsman Oscar, Bras Johannes, Schaap Gerard R., Baas Frank, Ylstra Bauke, Hulsebos Theo J. M. Focal chromosomal copy number aberrations identify CMTM8 and GPR177 as new candidate driver genes in osteosarcoma PLoS ONE 2014;9 (12):e115835 [PubMed]
  • Yick C. Y., Zwinderman A. H., Kunst P. W., Grünberg K., Mauad T., Chowdhury S., Bel E. H., Baas F., Lutter R., Sterk P. J. Gene expression profiling of laser microdissected airway smooth muscle tissue in asthma and atopy Allergy 2014;69 (9):1233-1240 [PubMed]
  • Groen Justus L. Genetic architecture of dystonia 2014. 193p. ISBN 9789090281308. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Koning-Tijssen M. A. J., Baas F.)
  • Lohmann Katja, Schmidt Alexander, Schillert Arne, Winkler Susen, Albanese Alberto, Baas Frank, Bentivoglio Anna Rita, Borngräber Friederike, Brüggemann Norbert, Defazio Giovanni, del Sorbo Francesca, Deuschl Günther, Edwards Mark J., Gasser Thomas, Gómez-Garre Pilar, Graf Julia, Groen Justus L., Grünewald Anne, Hagenah Johann, Hemmelmann Claudia, Jabusch Hans-Christian, Kaji Ryuji, Kasten Meike, Kawakami Hideshi, Kostic Vladimir S., Liguori Maria, Mir Pablo, Münchau Alexander, Ricchiuti Felicia, Schreiber Stefan, Siegesmund Katharina, Svetel Marina, Tijssen Marina A. J., Valente Enza Maria, Westenberger Ana, Zeuner Kirsten E., Zittel Simone, Altenmüller Eckart, Ziegler Andreas, Klein Christine Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? Movement disorders 2014;29 (7):921-927 [PubMed]
  • Brewer Megan Hwa, Ma Ki Hwan, Beecham Gary W., Gopinath Chetna, Baas Frank, Choi Byung-Ok, Reilly Mary M., Shy Michael E., Züchner Stephan, Svaren John, Antonellis Anthony Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2 Human molecular genetics 2014;23 (19):5171-5187 [PubMed]
  • Fluiter Kees, Opperhuizen Anne Loes, Morgan B. Paul, Baas Frank, Ramaglia Valeria Inhibition of the membrane attack complex of the complement system reduces secondary neuroaxonal loss and promotes neurologic recovery after traumatic brain injury in mice Journal of immunology (Baltimore, Md. 2014;192 (5):2339-2348 [PubMed]
  • Houten Sander M., Denis Simone, te Brinke Heleen, Jongejan Aldo, van Kampen Antoine H. C., Bradley Edward J., Baas Frank, Hennekam Raoul C. M., Millington David S., Young Sarah P., Frazier Dianne M., Gucsavas-Calikoglu Muge, Wanders Ronald J. A. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia Human molecular genetics 2014;23 (18):5009-5016 [PubMed]
  • Cohn-Hokke P. E., Wong T. H., Rizzu P., Breedveld G., van der Flier W. M., Scheltens P., Baas F., Heutink P., Meijers-Heijboer E. J., van Swieten J. C., Pijnenburg Y. A. L. Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort Journal of neurology 2014;261 (11):2085-2092 [PubMed]
  • Thomas Anna C., Williams Hywel, Setó-Salvia Núria, Bacchelli Chiara, Jenkins Dagan, O'Sullivan Mary, Mengrelis Konstantinos, Ishida Miho, Ocaka Louise, Chanudet Estelle, James Chela, Lescai Francesco, Anderson Glenn, Morrogh Deborah, Ryten Mina, Duncan Andrew J., Pai Yun Jin, Saraiva Jorge M., Ramos Fabiana, Farren Bernadette, Saunders Dawn, Vernay Bertrand, Gissen Paul, Straatmaan-Iwanowska Anna, Baas Frank, Wood Nicholas W., Hersheson Joshua, Houlden Henry, Hurst Jane, Scott Richard, Bitner-Glindzicz Maria, Moore Gudrun E., Sousa Sérgio B., Stanier Philip Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome American journal of human genetics 2014;95 (5):611-621 [PubMed]
  • Cordeddu Viviana, Redeker Bert, Stellacci Emilia, Jongejan Aldo, Fragale Alessandra, Bradley Ted E. J., Anselmi Massimiliano, Ciolfi Andrea, Cecchetti Serena, Muto Valentina, Bernardini Laura, Azage Meron, Carvalho Daniel R., Espay Alberto J., Male Alison, Molin Anna-Maja, Posmyk Renata, Battisti Carla, Casertano Alberto, Melis Daniela, van Kampen Antoine, Baas Frank, Mannens Marcel M., Bocchinfuso Gianfranco, Stella Lorenzo, Tartaglia Marco, Hennekam Raoul C. Mutations in ZBTB20 cause Primrose syndrome Nature genetics 2014;46 (8):815-817 [PubMed]
  • Sta Marleen Nervous immunity: A study on the role of complement system in neuronal degeneration and regeneration 2014. 201p. ISBN 9789462593602. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: Fluiter K.)
  • Cobos Jiménez Viviana, Willemsen Antonius M., Bradley Edward J., Baas Frank, van Kampen Antoine H. C., Kootstra Neeltje A. Next-generation sequencing of microRNAs in primary human polarized macrophages Genomics data 2014;2:181-183 [PubMed]
  • Cobos Jiménez Viviana, Bradley Edward J., Willemsen Antonius M., van Kampen Antoine H. C., Baas Frank, Kootstra Neeltje A. Next-generation sequencing of microRNAs uncovers expression signatures in polarized macrophages Physiological genomics 2014;46 (3):91-103 [PubMed]
  • Seelen Meinie, Visser Anne E., Overste Daniel J., Kim Hong J., Palud A., Wong Tsz H., van Swieten John C., Scheltens Philip, Voermans Nicol C., Baas Frank, de Jong J. M. B. V., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., Taylor J. Paul, van Es Michael A., van den Berg Leonard H. No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy Neurobiology of aging 2014;35 (8):1956.e9-1956.e11 [PubMed]
  • Brouwer Matthijs C., Meijers Joost C. M., Baas Frank, van der Ende Arie, Pfister Hans-Walter, Giese Armin, van de Beek Diederik, Koedel Uwe Plasminogen activator inhibitor-1 influences cerebrovascular complications and death in pneumococcal meningitis Acta neuropathologica 2014;127 (4):553-564 [PubMed]
  • van Paassen Barbara W., van der Kooi Anneke J., van Spaendonck-Zwarts Karin Y., Verhamme Camiel, Baas Frank, de Visser Marianne PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies Orphanet journal of rare diseases 2014;9 (1):38 [PubMed]
  • Uijterlinde Wilhelmina Ida Prediction of toxicity in concurrent chemoradiation for non-small cell lung cancer 2014. 165p. ISBN 9789789090280. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Baas F., Verheij M.; Co-supervisor: van den Heuvel M. M.)
  • Hulsebos Theo J. M., Kenter Susan, Verhagen Wim I. M., Baas Frank, Flucke Uta, Wesseling Pieter Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors Acta neuropathologica 2014;128 (3):439-448 [PubMed]
  • Elfrink Hyung Lim Rab6 and unfolded protein response-mediated proteostasis in Alzheimer's disease 2014. 146p. ISBN 9789789462537. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: Scheper W.)
  • Doorenspleet M. E., Klarenbeek P. L., de Hair M. J. H., van Schaik B. D. C., Esveldt R. E. E., van Kampen A. H. C., Gerlag D. M., Musters A. [=Anne], Baas F., Tak P. P., de Vries N. [=Niek] Rheumatoid arthritis synovial tissue harbours dominant B-cell and plasma-cell clones associated with autoreactivity Annals of the rheumatic diseases 2014;73 (4):756-762 [PubMed]
  • Peall K. J., Ritz K., Waite A. J., Groen J. L., Morris H. R., Baas F., Blake D. J., Tijssen M. A. J. SGCZ mutations are unlikely to be associated with myoclonus dystonia Neuroscience 2014;272:88-91 [PubMed]
  • Piet Jurgen R., Geldhoff Madelijn, van Schaik Barbera D. C., Brouwer Matthijs C., Valls Seron Mercedes, Jakobs Marja E., Schipper Kim, Pannekoek Yvonne, Zwinderman Aeilko H., van der Poll Tom, van Kampen Antoine H. C., Baas Frank, van der Ende Arie, van de Beek Diederik Streptococcus pneumoniae arginine synthesis genes promote growth and virulence in pneumococcal meningitis Journal of infectious diseases 2014;209 (11):1781-1791 [PubMed]
  • Sta M., Cappaert N. L. M., Ramekers D., Baas F., Wadman W. J. The functional and morphological characteristics of sciatic nerve degeneration and regeneration after crush injury in rats Journal of neuroscience methods 2014;222:189-198 [PubMed]
  • Baas Frank, Ramaglia Valeria Uncovering the Path to Neurodegeneration from Playigfield to Battlefieldin: Farid Sadaka, editors. Traumatic Brain Injury. S.l.: InTech; 2014. p. 79-106, ISBN 9789535112228
  • Eggens Veerle R. C., Barth Peter G., Baas Frank Update on pontocerebellar hypoplasia : novel subtypes, genes and insightsin: Stefano D'Arrigo, Daria Riva, Enza Maria Valente, editors. Paediatric neurological disorders with cerebellar involvement : Diagnosis and management. Montrouge: John Libbey Eurotext; 2014. p. 75-82, ISBN 9782742008353

2013

  • Klarenbeek Paul L. Beyond the keyhole perspective. Quantitative and full repertoire imaging of T- and B-cell receptors using next generation sequencing 2013. 145p. ISBN 9789461823601. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Tak P. P., Baas F.; Co-supervisor: de Vries Niek)
  • Ordoñana Juan R., Bartels Meike, Boomsma Dorret I., Cella David, Mosing Miriam, Oliveira Joao R., Patrick Donald L., Veenhoven Ruut, Wagner Gert G., Sprangers Mirjam A. G., Abernethy Amy P., Baas Frank, Barsevick Andrea M., Bottomley Andrew, Brundage Michael, Chauhan Cynthia, Cleeland Charles S., Coens Corneel, Dueck Amylou C., Frost Marlene H., Hall Per, Halyard Michele Y., Klepstad Pål, Martin Nicholas G., Miaskowski Christine, Movsas Benjamin, van Noorden Cornelis J. F., Oliveira Joao Ricardo, Ordoñana Juan, Pedersen Nancy L., Raat Hein, Reeve Bryce, Ropka Mary E., Shi Quiling, Shinozaki Gen, Singh Jasvinder A., Sloan Jeff A., Swaab Dick, Talwalker Jayant, Yang Ping, Zwinderman Ailko H. Biological pathways and genetic mechanisms involved in social functioning Quality of life research 2013;22 (6):1189-1200 [PubMed]
  • Groen Justus L., Simón-Sánchez Javier, Ritz Katja, Bochdanovits Zoltán, Fang Yue, van Hilten Jacobus J., Aramideh Majid, van de Warrenburg Bart P., Boon Agnita J. W., Baas Frank, Heutink Peter, Tijssen Marina A. J. Cervical dystonia and genetic common variation in the dopamine pathway Parkinsonism & related disorders 2013;19 (3):346-349 [PubMed]
  • Adriani Kirsten S., Brouwer Matthijs C., Geldhoff Madelijn, Baas Frank, Zwinderman Aeilko H., Paul Morgan B., Harris Claire L., van der Ende Arie, van de Beek Diederik Common polymorphisms in the complement system and susceptiblity to bacterial meningitis Journal of infection 2013;66 (3):255-262 [PubMed]
  • Brouwer Matthijs C., Baas Frank, van der Ende Arie, van de Beek Diederik Genetic variation and cerebrospinal fluid levels of mannose binding lectin in pneumococcal meningitis patients PLoS ONE 2013;8 (5):e65151 [PubMed]
  • Geldhoff Madelijn, Mook-Kanamori Barry B., Brouwer Matthijs C., Valls Seron Mercedes, Baas Frank, van der Ende Arie, van de Beek Diederik Genetic variation in inflammasome genes is associated with outcome in bacterial meningitis Immunogenetics 2013;65 (1):9-16 [PubMed]
  • Yick Ching Yong, Zwinderman Aeilko H., Kunst Peter W., Grünberg Katrien, Mauad Thais, Fluiter Kees, Bel Elisabeth H., Lutter René, Baas Frank, Sterk Peter J. Glucocorticoid-induced changes in gene expression of airway smooth muscle in patients with asthma American journal of respiratory and critical care medicine 2013;187 (10):1076-1084 [PubMed]
  • Maillette de Buy Wenniger Lucas J., Doorenspleet Marieke E., Klarenbeek Paul L., Verheij Joanne, Baas Frank, Elferink Ronald P. Oude, Tak Paul P., de Vries Niek, Beuers Ulrich Immunoglobulin G4+ clones identified by next-generation sequencing dominate the B cell receptor repertoire in immunoglobulin G4 associated cholangitis Hepatology (Baltimore, Md.) 2013;57 (6):2390-2398 [PubMed]
  • Elfrink Hyung Lim, Zwart Rob, Baas Frank, Scheper Wiep Inhibition of endoplasmic reticulum associated degradation reduces endoplasmic reticulum stress and alters lysosomal morphology and distribution Molecules and cells 2013;35 (4):291-297 [PubMed]
  • Groen Justus L., Ritz Katja, Tanck Michael W., van de Warrenburg Bart P., van Hilten Jacobus J., Aramideh Majid, Baas Frank, Tijssen Marina A. J. Is TOR1A a risk factor in adult-onset primary torsion dystonia? Movement disorders 2013;28 (6):827-831 [PubMed]
  • Weterman Marian A. J., Barth Peter G., van Spaendonck-Zwarts Karin Y., Aronica Eleonora, Poll-The Bwee-Tien, Brouwer Oebele F., van Tintelen J. Peter, Qahar Zohal, Bradley Edward J., de Wissel Marit, Salviati Leonardo, Angelini Corrado, van den Heuvel Lambertus, Thomasse Yolande E. M., Backx Ad P., Nürnberg Gudrun, Nürnberg Peter, Baas Frank Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy Brain 2013;136 (1):282-293 [PubMed]
  • Mook Olaf R. F., Haagmans Martin A., Soucy Jean-François, van de Meerakker Judith B. A., Baas Frank, Jakobs Marja E., Hofman Nynke, Christiaans Imke, Lekanne Deprez Ronald H., Mannens Marcel M. A. M. Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics Journal of medical genetics 2013;50 (9):614-626 [PubMed]
  • Yick Ching Yong The airway smooth muscle in asthma: more than meets the eye 2013. 211p. ISBN 9789461918161. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Sterk P. J., Baas F.; Co-supervisors: Lutter R., Grünberg K.)
  • Smith Bradley N., Newhouse Stephen, Shatunov Aleksey, Vance Caroline, Topp Simon, Johnson Lauren, Miller Jack, Lee Younbok, Troakes Claire, Scott Kirsten M., Jones Ashley, Gray Ian, Wright Jamie, Hortobágyi Tibor, Al-Sarraj Safa, Rogelj Boris, Powell John, Lupton Michelle, Lovestone Simon, Sapp Peter C., Weber Markus, Nestor Peter J., Schelhaas Helenius J., ten Asbroek A. A., Silani Vincenzo, Gellera Cinzia, Taroni Franco, Ticozzi Nicola, van den Berg Leonard, Veldink Jan, van Damme Phillip, Robberecht Wim, Shaw Pamela J., Kirby Janine, Pall Hardev, Morrison Karen E., Morris Alex, de Belleroche Jacqueline, de Jong J. M. B. Vianney, Baas Frank, Andersen Peter M., Landers John, Brown Robert H., Weale Michael E., Al-Chalabi Ammar, Shaw Christopher E. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder European journal of human genetics 2013;21 (1):102-108 [PubMed]
  • Yick Ching Yong, Zwinderman Aeilko H., Kunst Peter W., Grünberg Katrien, Mauad Thais, Dijkhuis Annemiek, Bel Elisabeth H., Baas Frank, Lutter René, Sterk Peter J. Transcriptome sequencing (RNA-Seq) of human endobronchial biopsies: asthma versus controls European respiratory journal 2013;42 (3):662-670 [PubMed]

2012

  • Weterman Marian A. J., Sorrentino Vincenzo, Kasher Paul R., Jakobs Marja E., van Engelen Baziel G. M., Fluiter Kees, de Wissel Marit B., Sizarov Aleksander, Nürnberg Gudrun, Nürnberg Peter, Zelcer Noam, Schelhaas H. Jurgen, Baas Frank A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy Human molecular genetics 2012;21 (2):358-370 [PubMed]
  • Groen Justus L., Ritz Katja, Velseboer Daan C., Aramideh Majid, van Hilten Jacobus J., Boon Agnita J. W., van de Warrenburg Bart P., Baas Frank, Tijssen Marina A. J. Association of BDNF Met66Met polymorphism with arm tremor in cervical dystonia Movement disorders 2012;27 (6):796-797 [PubMed]
  • van de Giessen Elsmarieke, Nimgaonkar Vishwajit L., Watson Annie M., Kodavali Chowdari, Baas Frank, Tanck Michael W. T., de Win Maartje M. L., van den Brink Wim, Booij Jan Association Tests of Striatal DAT Availability and SNPs That Impact a Novel Splice Variant in the DAT Gene Journal of nuclear medicine 2012;53 (5):839 [PubMed]
  • Ramaglia Valeria, Hughes Timothy R., Donev Rossen M., Ruseva Marieta M., Wu Xiaobo, Huitinga Inge, Baas Frank, Neal James W., Morgan B. Paul C3-dependent mechanism of microglial priming relevant to multiple sclerosis Proceedings of the National Academy of Sciences of the United States of America 2012;109 (3):965-970 [PubMed]
  • Klarenbeek P. L., Remmerswaal E. B. M., ten Berge I. J. M., Doorenspleet M. E., van Schaik B. D. C., Esveldt R. E. E., Koch S. D., ten Brinke A., van Kampen A. H. C., Bemelman F. J., Tak P. P., Baas F., de Vries N. [=Niek], van Lier R. A. W. Deep sequencing of antiviral T-cell responses to HCMV and EBV in humans reveals a stable repertoire that is maintained for many years PLoS pathogens 2012;8 (9):e1002889 [PubMed]
  • Schopman Nick C. T., Willemsen Marcel, Liu Ying Poi, Bradley Ted, van Kampen Antoine, Baas Frank, Berkhout Ben, Haasnoot Joost Deep sequencing of virus-infected cells reveals HIV-encoded small RNAs Nucleic acids research 2012;40 (1):414-427 [PubMed]
  • Brouwer Matthijs C., van der Ende Arie, Baas Frank, van de Beek Diederik Genetic variation in GLCCI1 and dexamethasone in bacterial meningitis Journal of infection 2012;65 (5):465-467 [PubMed]
  • Adriani Kirsten S., Brouwer Matthijs C., Baas Frank, Zwinderman Aeilko H., van der Ende Arie, van de Beek Diederik Genetic Variation in the beta 2-Adrenocepter Gene Is Associated with Susceptibility to Bacterial Meningitis in Adults PLoS ONE 2012;7 (5):e37618 [PubMed]
  • van den Munckhof Pepijn, Christiaans Imke, Kenter Susan B., Baas Frank, Hulsebos Theo J. M. Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri Neurogenetics 2012;13 (1):1-7 [PubMed]
  • Koehler Peter J., Baas Frank Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed Journal of the peripheral nervous system 2012;17 (4):412-413 [PubMed]
  • Jansen Casper, Parchi Piero, Capellari Sabina, Ibrahim-Verbaas Carla A., Schuur Maaike, Strammiello Rosaria, Corrado Patrizia, Bishop Matthew T., van Gool Willem A., Verbeek Marcel M., Baas Frank, van Saane Wesley, Spliet Wim G. M., Jansen Gerard H., van Duijn Cornelia M., Rozemuller Annemieke J. M. Human Prion Diseases in The Netherlands (1998-2009): Clinical, Genetic and Molecular Aspects PLoS ONE 2012;7 (4):e36333 [PubMed]
  • Both Joeri, Wu Thijs, Bras Johannes, Schaap Gerard R., Baas Frank, Hulsebos Theo J. M. Identification of Novel Candidate Oncogenes in Chromosome Region 17p11.2-p12 in Human Osteosarcoma PLoS ONE 2012;7 (1):e30907 [PubMed]
  • Klarenbeek P. L., de Hair M. J. H., Doorenspleet M. E., van Schaik B. D. C., Esveldt R. E. E., van de Sande M. G. H., Cantaert T., Gerlag D. M., Baeten D., van Kampen A. H. C., Baas F., Tak P. P., de Vries N. [=Niek] Inflamed target tissue provides a specific niche for highly expanded T-cell clones in early human autoimmune disease Annals of the rheumatic diseases 2012;71 (6):1088-1093 [PubMed]
  • van de Giessen Elsmarieke Neurobiological aspects of obesity: dopamine, srotonin, and imaging 2012. 302p. ISBN 9789461821706. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Booij J., van den Brink W.; Co-supervisors: Baas F., La Fleur S. E.)
  • Groen Justus L., Kallen Marlot C., van de Warrenburg Bart P. C., Speelman J. D., van Hilten Jacobus J., Aramideh Majid, Boon Agnita J. W., Klein Christine, Koelman Johannes H. T. M., Langeveld Ton P., Baas Frank, Tijssen Marina A. J. Phenotypes and genetic architecture of focal primary torsion dystonia Journal of neurology, neurosurgery, and psychiatry 2012;83 (10):1006-1011 [PubMed]
  • Ritz Katja A. Phenotypes and mechanisms in myoclonus-dystonia 2012. 169p. ISBN 9789461911551. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: de Koning-Tijssen M. A. J.)
  • Elfrink Hyung Lim, Zwart Rob, Cavanillas María L., Schindler Adam Jay, Baas Frank, Scheper Wiep Rab6 is a Modulator of the Unfolded Protein Response: Implications for Alzheimer's Disease Journal of Alzheimer s disease 2012;28 (4):917-929 [PubMed]
  • Namavar Yasmin, Barth Peter G., Baas Frank, Poll-The Bwee Tien Reply: Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4 Brain 2012;135 (1):e200
  • Nijholt Diana A. T. The unfolded protein response. A common pathomechanism in tauopathies 2012. 215p. ISBN 9789088914539. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.)

2011

  • Jansen Casper, Voet Willem, Head Mark W., Parchi Piero, Yull Helen, Verrips Aad, Wesseling Pieter, Meulstee Jan, Baas Frank, van Gool Willem A., Ironside James W., Rozemuller Annemieke J. M. A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature Acta neuropathologica 2011;121 (1):59-68 [PubMed]
  • de Vries Michel, Deijs Martin, Canuti Marta, van Schaik Barbera D. C., Faria Nuno R., van de Garde Martijn D. B., Jachimowski Loes C. M., Jebbink Maarten F., Jakobs Marja, Luyf Angela C. M., Coenjaerts Frank E. J., Claas Eric C. J., Molenkamp Richard, Koekkoek Sylvie M., Lammens Christine, Leus Frank, Goossens Herman, Ieven Margareta, Baas Frank, van der Hoek Lia A Sensitive Assay for Virus Discovery in Respiratory Clinical Samples PLoS ONE 2011;6 (1):e16118 [PubMed]
  • Namavar Yasmin, Barth Peter G., Poll-The Bwee Tien, Baas Frank Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia Orphanet journal of rare diseases 2011;6 (1):50 [PubMed]
  • Namavar Yasmin, Barth Peter G., Kasher Paul R., van Ruissen Fred, Brockmann Knut, Bernert Günther, Writzl Karin, Ventura Karen, Cheng Edith Y., Ferriero Donna M., Basel-Vanagaite Lina, Eggens Veerle R. C., Krägeloh-Mann Ingeborg, de Meirleir Linda, King Mary, Graham John M., von Moers Arpad, Knoers Nine, Sztriha Laszlo, Korinthenberg Rudolf, Dobyns William B., Baas Frank, Poll-The Bwee Tien, van der Aa Nathalie, Arts Willem F. M., Ades Lesley C., Bahi-Buisson Nadia, Battini Roberta, Bodamer Olaf, Boltshauser Eugen, Boycott Kym, Brueton Louise, Brussel Wim, Chandler K. E., Cowan Frances M., Crow Yanick, Debus Otfried, Demir Ercan, Hastanesi Gazi, Eason Jacqueline, Ferrie Colin D., Fisher Richard B., Foulds Nicola, Freeman Jeremy L., Gooskens Rob, Haeussler Martin, Hageman Gerard, Hammersen Gerhard, Horn Denise, Tijssen Marina A. J. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia Brain 2011;134 (Part 1):143-156 [PubMed]
  • Woehrl Bianca, Brouwer Matthijs C., Murr Carmen, Heckenberg Sebastiaan G. B., Baas Frank, Pfister Hans W., Zwinderman Aeilko H., Morgan B. Paul, Barnum Scott R., van der Ende Arie, Koedel Uwe, van de Beek Diederik Complement component 5 contributes to poor disease outcome in humans and mice with pneumococcal meningitis Journal of clinical investigation 2011;121 (10):3943-3953 [PubMed]
  • Holtman L., van Vliet E. A., Baas F., Aronica E., Gorter J. A. Complement protein 6 deficiency in PVG/c rats does not lead to neuroprotection against seizure induced cell death Neuroscience 2011;188:109-116 [PubMed]
  • Boot Erik, Booij Jan, Zinkstok Janneke R., Baas Frank, Swillen Ann, Owen Michael J., Murphy Declan G., Murphy Kieran C., Linszen Don H., van Amelsvoort Thérèse A. COMT Val(158) met genotype and striatal D(2/3) receptor binding in adults with 22q11 deletion syndrome Synapse (New York, N.Y.) 2011;65 (9):967-970 [PubMed]
  • Huis In 't Veld Robert Antonius Gerhardus, Willemsen Antonius Marcellinus, van Kampen Antonius Hubertus Cornelis, Bradley Edward John, Baas Frank, Pannekoek Yvonne, van der Ende Arie Deep sequencing whole transcriptome exploration of the σE regulon in Neisseria meningitidis PLoS ONE 2011;6 (12):e29002 [PubMed]
  • Boot Erik, Booij Jan, Abeling Nico, Meijer Julia, da Silva Alves Fabiana, Zinkstok Janneke, Baas Frank, Linszen Don, van Amelsvoort Thérèse Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia--relationship with COMT Val¹⁰⁸/¹⁵⁸Met polymorphism, gender and symptomatology Journal of psychopharmacology (Oxford, England) 2011;25 (7):888-895 [PubMed]
  • Nijholt D. A. T., de Graaf T. R., van Haastert E. S., Oliveira A. Osório, Berkers C. R., Zwart R., Ovaa H., Baas F., Hoozemans J. J. M., Scheper W. Endoplasmic reticulum stress activates autophagy but not the proteasome in neuronal cells: implications for Alzheimer's disease Cell death and differentiation 2011;18 (6):1071-1081 [PubMed]
  • Piet J. R., Huis in 't Veld R. A. G., van Schaik B. D. C., van Kampen A. H. C., Baas F., van de Beek D., Pannekoek Y., van der Ende A. Genome sequence of Neisseria meningitidis serogroup B strain H44/76 Journal of bacteriology 2011;193 (9):2371-2372 [PubMed]
  • Christiaans I., Kenter S. B., Brink H. C., van Os T. A. M., Baas F., van den Munckhof P., Kidd A. M. J., Hulsebos T. J. M. Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas Journal of medical genetics 2011;48 (2):93-97 [PubMed]
  • Kasher Paul R., Namavar Yasmin, van Tijn Paula, Fluiter Kees, Sizarov Aleksander, Kamermans Maarten, Grierson Andrew J., Zivkovic Danica, Baas Frank Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia Human molecular genetics 2011;20 (8):1574-1584 [PubMed]
  • Sta M., Sylva-Steenland R. M. R., Casula M., de Jong J. M. B. V., Troost D., Aronica E., Baas F. Innate and adaptive immunity in amyotrophic lateral sclerosis: Evidence of complement activation Neurobiology of disease 2011;42 (3):211-220 [PubMed]
  • Ritz Katja, van Schaik Barbera D. C., Jakobs Marja E., Aronica Eleonora, Tijssen Marina A., van Kampen Antoine H. C., Baas Frank Looking ultra deep: short identical sequences and transcriptional slippage Genomics 2011;98 (2):90-95 [PubMed]
  • Verhamme Camiel, King Rosalind H. M., ten Asbroek Anneloor L. M. A., Muddle John R., Nourallah Michelle, Wolterman Ruud, Baas Frank, van Schaik Ivo N. Myelin and Axon Pathology in a Long-Term Study of PMP22-Overexpressing Mice Journal of neuropathology and experimental neurology 2011;70 (5):386-398 [PubMed]
  • van Munster Barbara C., Baas Frank, Tanck Michael W., de Rooij Sophia E. J. A. Polymorphisms in the catechol-o-methyltransferase gene and delirium in the elderly Dementia and geriatric cognitive disorders 2011;31 (5):358-362 [PubMed]
  • Namavar Yasmin Pontocerebellar hypoplasia: from gene to disease 2011. 189p. ISBN 9789461910141. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Baas F., Poll-The B. T.; Co-supervisor: Barth P. G.)
  • Ritz Katja, van Schaik Barbera Dc, Jakobs Marja E., van Kampen Antoine H., Aronica Eleonora, Tijssen Marina A., Baas Frank SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? European journal of human genetics 2011;19 (4):438-444 [PubMed]
  • Groen Justus L., Yildirim Eren, Ritz Katja, Baas Frank, van Hilten Jacobus J., van der Meulen Freerk W., Langeveld Ton P., Tijssen Marina A. J. THAP1 mutations are infrequent in spasmodic dysphonia Movement disorders 2011;26 (10):1952-1954 [PubMed]
  • de Vries Sara D. J., Verhamme Camiel, van Ruissen Fred, van Paassen Barbara W., Arts Willem F., Kerkhoff Henk, van Engelen Baziel G. M., Lammens Martin, de Visser Marianne, Baas Frank, van der Kooi Anneke J. The phenotype of the Gly94fsX222 PMP22 insertion Journal of the peripheral nervous system 2011;16 (2):113-118 [PubMed]
  • Namavar Yasmin, Chitayat David, Barth Peter G., van Ruissen Fred, de Wissel Marit B., Poll-The Bwee Tien, Silver Rachel, Baas Frank TSEN54 mutations cause pontocerebellar hypoplasia type 5 European journal of human genetics 2011;19 (6):724-726 [PubMed]

2010

  • Shi Qiuling, Cleeland Charles S., Klepstad Pål, Miaskowski Christine, Pedersen Nancy L., Abernethy Amy P., Baas Frank, Barsevick Andrea M., Bartels Meike, Boomsma Dorret I., Chauhan Cynthia, Dueck Amylou C., Frost Marlene H., Hall Per, Halyard Michele Y., Martin Nicholas G., Mosing Miriam, Movsas Benjamin, van Noorden Cornelis J. F., Patrick Donald L., Ropka Mary E., Shinozaki Gen, Singh Jasvinder A., Sloan Jeff A., Sprangers Mirjam A. G., Veenhoven Ruut, Yang Ping, Zwinderman Ailko H. Biological pathways and genetic variables involved in pain Quality of life research 2010;19 (10):1407-1417 [PubMed]
  • Verhamme Camiel Charcot-Marie-Tooth type 1A 2010. 181p. ISBN 9789081608114. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser M., Baas F.; Co-supervisor: van Schaik I. N.)
  • Weterman Marian Aj, van Ruissen Fred, de Wissel Marit, Bordewijk Lou, Samijn Johnny Pa, van der Pol W. Ludo, Meggouh Farid, Baas Frank Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease European journal of human genetics 2010;18 (4):421-428 [PubMed]
  • Groen Justus L., Ritz Katja, Contarino Maria Fiorella, van de Warrenburg Bart P., Aramideh Majid, Foncke Elisabeth M., van Hilten Jacobus J., Schuurman P. Richard, Speelman Johannes D., Koelman Johannes H., de Bie Rob M. A., Baas Frank, Tijssen Marina A. DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation Movement disorders 2010;25 (14):2420-2427 [PubMed]
  • Klarenbeek Paul L., Tak Paul P., van Schaik Barbera D. C., Zwinderman Aeilko H., Jakobs Marja E., Zhang Zhuoli, van Kampen Antoine H. C., van Lier René A. W., Baas Frank, de Vries Niek Human T-cell memory consists mainly of unexpanded clones Immunology letters 2010;133 (1):42-48 [PubMed]
  • Barsevick Andrea, Frost Marlene, Zwinderman Aeilko, Hall Per, Halyard Michele, Abertnethy Amy P., Baas Frank, Barsevick Andrea M., Bartels Meike, Boomsma Dorret I., Chauhan Cynthia, Cleeland Charles S., Dueck Amylou C., Frost Marlene H., Halyard Michele Y., Klepstad Pål, Martin Nicholas G., Miaskowski Christine, Mosing Miriam, Movsas Benjamin, van Noorden Cornelis J. F., Patrick Donald L., Pedersen Nancy L., Ropka Mary E., Shi Quiling, Shinozaki Gen, Singh Jasvinder A., Sloan Jeff A., Sprangers Mirjam A. G., Veenhoven Ruut, Yang Ping I'm so tired: biological and genetic mechanisms of cancer-related fatigue Quality of life research 2010;19 (10):1419-1427 [PubMed]
  • Luyf Angela C. M., van Schaik Barbera D. C., de Vries Michel, Baas Frank, van Kampen Antoine H. C., Olabarriaga Silvia D. Initial steps towards a production platform for DNA sequence analysis on the grid BMC bioinformatics 2010;11 (1):598 [PubMed]
  • Mook O. R. F., Vreijling Jeroen, Wengel Suzy L., Wengel Jesper, Zhou Chuanzheng, Chattopadhyaya Jyoti, Baas Frank, Fluiter Kees In vivo efficacy and off-target effects of locked nucleic acid (LNA) and unlocked nucleic acid (UNA) modified siRNA and small internally segmented interfering RNA (sisiRNA) in mice bearing human tumor xenografts Artificial DNA, PNA & XNA 2010;1 (1):36-44 [PubMed]
  • Zhang Feng, Seeman Pavel, Liu Pengfei, Weterman Marian A. J., Gonzaga-Jauregui Claudia, Towne Charles F., Batish Sat Dev, de Vriendt Els, de Jonghe Peter, Rautenstrauss Bernd, Krause Klaus-Henning, Khajavi Mehrdad, Posadka Jan, Vandenberghe Antoon, Palau Francesc, van Maldergem Lionel, Baas Frank, Timmerman Vincent, Lupski James R. Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability American journal of human genetics 2010;86 (6):892-903 [PubMed]
  • Graham John M., Spencer Andrew H., Grinberg Inessa, Niesen Charles E., Platt Lawrence D., Maya Marcel, Namavar Yasmin, Baas Frank, Dobyns William B. Molecular and Neuroimaging Findings in Pontocerebellar Hypoplasia Type 2 (PCH2): Is Prenatal Diagnosis Possible? American journal of medical genetics. Part A 2010;152A (9):2268-2276 [PubMed]
  • Hertoghs Kirsten M. L., Moerland Perry D., van Stijn Amber, Remmerswaal Ester B. M., Yong Sila L., van de Berg Pablo J. E. J., van Ham S. Marieke, Baas Frank, ten Berge Ineke J. M., van Lier René A. W. Molecular profiling of cytomegalovirus-induced human CD8+ T cell differentiation Journal of clinical investigation 2010;120 (11):4077-4090 [PubMed]
  • Meyer Zu Hörste Gerd, Heidenreich Holger, Mausberg Anne K., Lehmann Helmar C., ten Asbroek Anneloor L. M. A., Saavedra José T., Baas Frank, Hartung Hans-Peter, Wiendl Heinz, Kieseier Bernd C. Mouse Schwann cells activate MHC class I and II restricted T-cell responses, but require external peptide processing for MHC class II presentation Neurobiology of disease 2010;37 (2):483-490 [PubMed]
  • Jansen Casper, Parchi Piero, Capellari Sabina, Vermeij Ad J., Corrado Patrizia, Baas Frank, Strammiello Rosaria, van Gool Willem A., van Swieten John C., Rozemuller Annemieke J. M. Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP Acta neuropathologica 2010;119 (2):189-197 [PubMed]
  • Bolduc Véronique, Marlow Gareth, Boycott Kym M., Saleki Khalil, Inoue Hiroshi, Kroon Johan, Itakura Mitsuo, Robitaille Yves, Parent Lucie, Baas Frank, Mizuta Kuniko, Kamata Nobuyuki, Richard Isabelle, Linssen Wim H. J. P., Mahjneh Ibrahim, de Visser Marianne, Bashir Rumaisa, Brais Bernard Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies American journal of human genetics 2010;86 (2):213-221 [PubMed]
  • Sprangers Mirjam A. G., Sloan Jeff A., Barsevick Andrea, Chauhan Cynthia, Dueck Amylou C., Raat Hein, Shi Quiling, van Noorden Cornelis J. F., Abernethy Amy P., Baas Frank, Barsevick Andrea M., Bartels Meike, Boomsma Dorret I., Bottomley Andrew, Brundage Michael, Cella David, Cleeland Charles S., Coens Corneel, Frost Marlene H., Hall Per, Halyard Michele Y., Klepstad Pål, Martin Nicholas G., Miaskowski Christine, Mosing Miriam, Movsas Benjamin, Oliveira Joao R., Ordoñana Juan, Patrick Donald L., Pedersen Nancy L., Reeve Bryce, Ropka Mary E., Shinozaki Gen, Singh Jasvinder A., Swaab Dick, Veenhoven Ruut, Wagner Gert, Yang Ping, Zwinderman Ailko H. Scientific imperatives, clinical implications, and theoretical underpinnings for the investigation of the relationship between genetic variables and patient-reported quality-of-life outcomes Quality of life research 2010;19 (10):1395-1403 [PubMed]
  • Hulsebos T. J. M., Kenter S. B., Jakobs M. E., Baas F., Chong B., Delatycki M. B. SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis Clinical genetics 2010;77 (1):86-91 [PubMed]
  • Boot E., Booij J., Zinkstok J. R., de Haan L., Linszen D. H., Baas F., van Amelsvoort T. A. Striatal D₂ receptor binding in 22q11 deletion syndrome: an [¹²³I]IBZM SPECT study Journal of psychopharmacology (Oxford, England) 2010;24 (10):1525-1531 [PubMed]
  • Jansen C., Head M. W., van Gool W. A., Baas F., Yull H., Ironside J. W., Rozemuller A. J. M. The first case of protease-sensitive prionopathy (PSPr) in The Netherlands: a patient with an unusual GSS-like clinical phenotype Journal of neurology, neurosurgery, and psychiatry 2010;81 (9):1052-1055 [PubMed]
  • Laursen Maria B., Pakula Malgorzata M., Gao Shan, Fluiter Kees, Mook Olaf R., Baas Frank, Langklær Niels, Wengel Suzy L., Wengel Jesper, Kjems Jørgen, Bramsen Jesper B. Utilization of unlocked nucleic acid (UNA) to enhance siRNA performance in vitro and in vivo Molecular bioSystems 2010;6 (5):862-870 [PubMed]
  • Sprangers Mirjam A. G., Bartels Meike, Veenhoven Ruut, Baas Frank, Martin Nicholas G., Mosing Miriam, Movsas Benjamin, Ropka Mary E., Shinozaki Gen, Swaab Dick, Abertnethy Amy P., Barsevick Andrea M., Boomsma Dorret I., Chauhan Cynthia, Cleeland Charles S., Dueck Amylou C., Frost Marlene H., Hall Per, Halyard Michele Y., Klepstad Pål, Miaskowski Christine, van Noorden Cornelis J. F., Patrick Donald L., Pedersen Nancy L., Shi Quiling, Singh Jasvinder A., Sloan Jeff A., Yang Ping, Zwinderman Ailko H. Which patient will feel down, which will be happy? The need to study the genetic disposition of emotional states Quality of life research 2010;19 (10):1429-1437 [PubMed]

2009

  • van Es M. A., Diekstra F. P., Veldink J. H., Baas F., Bourque P. R., Schelhaas H. J., Strengman E., Hennekam E. A. M., Lindhout D., Ophoff R. A., van den Berg L. H. A case of als-ftd in a large fals pedigree with a k17i ang mutation Neurology 2009;72 (3):287-288 [PubMed]
  • Mook O. R. F., Baas F., de Wissel M. B., Fluiter K. Allele-specific cancer cell killing in vitro and in vivo targeting a single-nucleotide polymorphism in POLR2A Cancer gene therapy 2009;16 (6):532-538 [PubMed]
  • Hantke Janina, Chandler David, King Rosalind, Wanders Ronald J. A., Angelicheva Dora, Tournev Ivailo, McNamara Elyshia, Kwa Marcel, Guergueltcheva Velina, Kaneva Radka, Baas Frank, Kalaydjieva Luba A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR) European journal of human genetics 2009;17 (12):1606-1614 [PubMed]
  • Hahntow Ines N., Mairuhu Gideon, van Valkengoed Irene G. M., Baas Frank, Alewijnse Astrid E., Koopmans Richard P., Michel Martin C. Are RGS2 Gene Polymorphisms Associated With High Blood Pressure in an Ethnicity- and Gender-Specific Manner? American journal of hypertension 2009;22 (1):80-86 [PubMed]
  • Drewniak Agata, van Raam Bram J., Geissler Judy, Tool Anton T. J., Mook Olaf R. F., van den Berg Timo K., Baas Frank, Kuijpers Taco W. Changes in gene expression of granulocytes during in vivo granulocyte colony-stimulating factor/dexamethasone mobilization for transfusion purposes Blood 2009;113 (23):5979-5998 [PubMed]
  • Ramaglia Valeria, Tannemaat Martijn Rudolf, de Kok Maryla, Wolterman Ruud, Vigar Miriam Ann, King Rosalind Helen Mary, Morgan Bryan Paul, Baas Frank Complement inhibition accelerates regeneration in a model of peripheral nerve injury Molecular immunology 2009;47 (2-3):302-309 [PubMed]
  • Ramaglia Valeria, King Rosalind Helen Mary, Morgan Bryan Paul, Baas Frank Deficiency of the complement regulator CD59a exacerbates Wallerian degeneration Molecular immunology 2009;46 (8-9):1892-1896 [PubMed]
  • Fluiter Kees, Mook Olaf R. F., Vreijling Jeroen, Langkjaer Niels, Højland Torben, Wengel Jesper, Baas Frank Filling the gap in LNA antisense oligo gapmers: the effects of unlocked nucleic acid (UNA) and 4'-C-hydroxymethyl-DNA modifications on RNase H recruitment and efficacy of an LNA gapmer Molecular bioSystems 2009;5 (8):838-843 [PubMed]
  • Ramaglia V., Baas F. Innate immunity in the nervous system Progress in brain research 2009;175:95-123 [PubMed]
  • Kuijpers Taco W., van de Vijver Edith, Weterman Marian A. J., de Boer Martin, Tool Anton T. J., van den Berg Timo K., Moser Markus, Jakobs Marja E., Seeger Karl, Sanal Ozden, Unal Sule, Cetin Mualla, Roos Dirk, Verhoeven Arthur J., Baas Frank LAD-1/variant syndrome is caused by mutations in FERMT3 Blood 2009;113 (19):4740-4746 [PubMed]
  • Ritz Katja, Gerrits Mignon C. F., Foncke Elisabeth M. J., van Ruissen Fred, van der Linden Chris, Vergouwen Mervyn D. I., Bloem Bastiaan R., Vandenberghe Wim, Crols Roeland, Speelman Johannes D., Baas Frank, Tijssen Marina A. J. Myoclonus-Dystonia: clinical and genetic evaluation of a large cohort Journal of neurology, neurosurgery, and psychiatry 2009;80 (6):653-658 [PubMed]
  • Verhamme Camiel, de Haan Rob J., Vermeulen Marinus, Baas Frank, de Visser Marianne, van Schaik Ivo N. Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial BMC medicine 2009;7 (1):70 [PubMed]
  • van Tiel Claudia M., Bonta Peter I., Rittersma Saskia Z. H., Beijk Marcel A. M., Bradley Edward J., Klous Anita M., Koch Karel T., Baas Frank, Jukema J. Wouter, Pons Douwe, Sampietro M. Lourdes, Pannekoek Hans, de Winter Robbert J., de Vries Carlie J. M. p27kip1-838C>A Single Nucleotide Polymorphism Is Associated With Restenosis Risk After Coronary Stenting and Modulates p27kip1 Promoter Activity Circulation 2009;120 (8):669-676 [PubMed]
  • Ritz Katja, Groen Justus L., Kruisdijk Jose J. M., Baas Frank, Koelman Johannes H. T. M., Tijssen Marina A. J. Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp Movement disorders 2009;24 (9):1390-1392 [PubMed]
  • Ruhé Henricus G., Ooteman Wendy, Booij Jan, Michel Martin C., Moeton Martina, Baas Frank, Schene Aart H. Serotonin transporter gene promoter polymorphisms modify the association between paroxetine serotonin transporter occupancy and clinical response in major depressive disorder Pharmacogenetics and genomics 2009;19 (1):67-76 [PubMed]
  • van de Giessen Elisabeth M., de Win Maartje M. L., Tanck Michael W. T., van den Brink Wim, Baas Frank, Booij Jan Striatal Dopamine Transporter Availability Associated with Polymorphisms in the Dopamine Transporter Gene SLC6A3 Journal of nuclear medicine 2009;50 (1):45-52 [PubMed]
  • Sprangers Mirjam A. G., Sloan Jeff A., Veenhoven Ruut, Cleeland Charles S., Halyard Michele Y., Abertnethy Amy P., Baas Frank, Barsevick Andrea M., Bartels Meike, Boomsma Dorret I., Chauhan Cynthia, Dueck Amylou C., Frost Marlene H., Hall Per, Klepstad Pål, Martin Nicholas G., Miaskowski Christine, Mosing Miriam, Movsas Benjamin, van Noorden Cornelis J. F., Patrick Donald L., Pedersen Nancy L., Ropka Mary E., Shi Quiling, Shinozaki Gen, Singh Jasvinder A., Yang Ping, Zwinderman Ailko H. The establishment of the GENEQOL consortium to investigate the genetic disposition of patient-reported quality-of-life outcomes Twin research and human genetics 2009;12 (3):301-311 [PubMed]
  • Fluiter Kees, Mook Olaf R. F., Baas Frank The therapeutic potential of LNA-modified siRNAs: reduction of off-target effects by chemical modification of the siRNA sequence Methods in molecular biology (Clifton, N.J.) 2009;487:189-203 [PubMed]
  • Fluiter Kees, Mook Olaf R. F., Baas Frank The Therapeutic Potential of LNA-Modified siRNAs: Reduction of Off-Target Effects by Chemical Modification of the siRNA Sequencein: M. Sioud, editors. siRNA and miRNA Gene Silencing. New York: Humana Press; 2009. p. 189-203, ISBN 9781603275460
  • van der Graaff M. M., de Jong J. M. B. V., Baas F., de Visser M. Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: A clinical and brain imaging review Neuromuscular disorders 2009;19 (1):53-58 [PubMed]

2008

  • Lagarde S. M., Ver Loren van Themaat P. E., Moerland P. D., Gilhuijs-Pederson L. A., ten Kate F. J. W., Reitsma P. H., van Kampen A. H. C., Zwinderman A. H., Baas F., van Lanschot J. J. B. Analysis of Gene Expression Identifies Differentially Expressed Genes and Pathways Associated with Lymphatic Dissemination in Patients with Adenocarcinoma of the Esophagus Annals of surgical oncology 2008;15 (12):3459-3470 [PubMed]
  • Zinkstok Janneke, van Nimwegen Lonneke, van Amelsvoort Therese, de Haan Lieuwe, Yusuf Maryan Abdulkadir, Baas Frank, Linszen Don Catechol-O-methyltransferase gene and obsessive-compulsive symptoms in patients with recent-onset schizophrenia: Preliminary results Psychiatry research 2008;157 (1-3):1-8 [PubMed]
  • Contarino Maria Fiorella, Berger-Plantinga Elles, Foncke Elisabeth M. J., Ritz Katja, Mellema Jonke, Baas Frank, Speelman Johannes D., Tijssen Marina A. J. Clinical and Genetic Characterization of a Large Dutch Family with Primary Focal Dystonia Movement disorders 2008;23 (14):1998-2003 [PubMed]
  • Smit Liesbeth S., Roofthooft Daniella, van Ruissen Fred, Baas Frank, van Doorn Pieter A. Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family Neuromuscular disorders 2008;18 (1):59-62 [PubMed]
  • Boot Erik, Booij Jan, Zinkstok Janneke, Abeling Nico, de Haan Lieuwe, Baas Frank, Linszen Don, van Amelsvoort Thérèse Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome Neuropsychopharmacology 2008;33 (6):1252-1258 [PubMed]
  • Biewenga Petra, Buist Marrije R., Moerland Perry D., van Thernaat Emiel Ver Loren, van Kampen Antoine H. C., ten Kate Fiebo J. W., Baas Frank Gene expression in early stage cervical cancer Gynecologic oncology 2008;108 (3):520-526 [PubMed]
  • Namavar Yasmin, Baas Frank Genetica van pontocerebellaire hypoplasie Epilepsie 2008;6 (4):5
  • Zinkstok J., Schmitz N., van Amelsvoort T., Moeton M., Baas F., Linszen D. Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia Genes, brain, and behavior 2008;7 (1):61-69 [PubMed]
  • van Es Michael A., van Vught Paul Wj, Blauw Hylke M., Franke Lude, Saris Christiaan G. J., van den Bosch Ludo, de Jong Sonja W., de Jong Vianney, Baas Frank, van't Slot Ruben, Lemmens Robin, Schelhaas Helenius J., Birve Anna, Sleegers Kristel, van Broeckhoven Christine, Schymick Jennifer C., Traynor Bryan J., Wokke John H. J., Wijmenga Cisca, Robberecht Wim, Andersen Peter M., Veldink Jan H., Ophoff Roel A., van den Berg Leonard H. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis Nature genetics 2008;40 (1):29-31 [PubMed]
  • Ruigrok Ynte M., Wijmenga Cisca, Rinkel Gabriel J. E., van't Slot Ruben, Baas Frank, Wolfs Marcel, Westerveld Andries, Roos Yvo B. W. E. M. Genomewide linkage in a large Dutch family with intracranial aneurysms: replication of 2 loci for intracranial aneurysms to chromosome 1p36.11-p36.13 and Xp22.2-p22.32 Stroke; a journal of cerebral circulation 2008;39 (4):1096-1102 [PubMed]
  • van Stijn Amber, Rowshani Ajda T., Yong Sila L., Baas Frank, Roosnek Eddy, ten Berge Ineke J. M., van Lier René A. W. Human cytomegalovirus infection induces a rapid and sustained change in the expression of NK cell receptors on CD8+ T cells Journal of immunology (Baltimore, Md. 2008;180 (7):4550-4560 [PubMed]
  • Chafekar Sidhartha M., Zwart Rob, Veerhuis Robert, Vanderstichele H., Baas Frank, Scheper Wiep Increased Abeta1-42 production sensitizes neuroblastoma cells for ER stress toxicity Current Alzheimer research 2008;5 (5):469-474 [PubMed]
  • Ammerlaan A. C. J., Ararou A., Houben M. P. W. A., Baas F., Tijssen C. C., Teepen J. L. J. M., Wesseling P., Hulsebos T. J. M. Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome British journal of cancer 2008;98 (2):474-479 [PubMed]
  • de Haas Talitha, Hasselt Nancy, Troost Dirk, Caron Huib, Popovic Mara, Zadravec-Zaletel Lorna, Grajkowska Wieslawa, Perek Marta, Osterheld Maria-Chiara, Ellison David, Baas Frank, Versteeg Rogier, Kool Marcel Molecular risk stratification of medulloblastoma patients based on immunohistochemical analysis of MYC, LDHB, and CCNB1 expression Clinical cancer research 2008;14 (13):4154-4160 [PubMed]
  • Saavedra José T., Wolterman Ruud A., Baas Frank, ten Asbroek Anneloor L. M. A. Myelination competent conditionally immortalized mouse Schwann cells Journal of neuroscience methods 2008;174 (1):25-30 [PubMed]
  • Vergouwen M. D. I., Sistermans E. A., Baas F., Koelman J. H., de Visser M. Novel mutation in the SPAST gene in a patient with spastic paraparesis Journal of neurology 2008;255 (2):303-304 [PubMed]
  • Chafekar Sidhartha M., Baas Frank, Scheper Wiep Oligomer-specific Abeta toxicity in cell models is mediated by selective uptake BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2008;1782 (9):523-531 [PubMed]
  • van Ruissen Fred, Schaaf Gerben J., Kool Marcel, Baas Frank, Ruijter Jan M. Scaling of gene expression data allowing the comparison of different gene expression platforms Methods in molecular biology (Clifton, N.J.) 2008;387:169-183 [PubMed]
  • Katerberg Hilga, Cath Danielle C., Tijssen Marina A. J., van Balkom Anton J. L. M., van de Leemput Yvonne L. C., den Boer Johan A., Heutink Peter, Baas Frank Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder Psychiatric genetics 2008;18 (2):98 [PubMed]
  • Ramaglia Valeria, Wolterman Ruud, de Kok Maryla, Vigar Miriam Ann, Wagenaar-Bos Ineke, King Rosalind Helen Mary, Morgan Brian Paul, Baas Frank Soluble complement receptor 1 protects the peripheral nerve from early axon loss after injury American journal of pathology 2008;172 (4):1043-1052 [PubMed]
  • Chafekar Sidhartha M. The aggregation state of β-amyloid in Alzheimer's disease 2008. 198p. ISBN 9789090230580. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: Scheper W.)
  • Ramaglia Valeria The complement system in the peripheral nerve 2008. 179p. ISBN 9789090234441. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.; Co-supervisor: Morgan B. P.)
  • Ramaglia V., Daha M. R., Baas F. The complement system in the peripheral nerve: Friend or foe? Molecular immunology 2008;45 (15):3865-3877 [PubMed]
  • Budde Birgit S., Namavar Yasmin, Barth Peter G., Poll-The Bwee Tien, Nürnberg Gudrun, Becker Christian, van Ruissen Fred, Weterman Marian A. J., Fluiter Kees, te Beek Erik T., Aronica Eleonora, van der Knaap Marjo S., Höhne Wolfgang, Toliat Mohammad Reza, Crow Yanick J., Steinlin Maja, Voit Thomas, Roelens Filip, Brussel Wim, Brockmann Knut, Kyllerman Marten, Boltshauser Eugen, Hammersen Gerhard, Willemsen Michèl, Basel-Vanagaite Lina, Krägeloh-Mann Ingeborg, de Vries Linda S., Sztriha Laszlo, Muntoni Francesco, Ferrie Colin D., Battini Roberta, Hennekam Raoul C. M., Grillo Eugenio, Beemer Frits A., Stoets Loes M. E., Wollnik Bernd, Nürnberg Peter, Baas Frank tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia Nature genetics 2008;40 (9):1113-1118 [PubMed]

2007

  • Chafekar Sidhartha M., Hoozemans Jeroen J. M., Zwart Rob, Baas Frank, Scheper Wiep Abeta 1-42 induces mild endoplasmic reticulum stress in an aggregation state-dependent manner Antioxidants & redox signaling 2007;9 (12):2245-2254 [PubMed]
  • Zinkstok Janneke R., de Wilde Odette, van Amelsvoort Therese A. M. J., Tanck Michael W., Baas Frank, Linszen Don H. Association between the DTNBP1 gene and intelligence: a case-control study in young patients with schizophrenia and related disorders and unaffected siblings Behavioral and brain functions 2007;3:19 [PubMed]
  • Bienfait Henriette M. E. Axonal phenotypes in Charcot-Marie-Tooth disease 2007. 115p. ISBN 9789090214801. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser Marianne, Baas Frank; Co-supervisor: Koelman Johannes H. T. M.)
  • Chafekar Sidhartha M., Malda Hinke, Merkx Maarten, Meijer E. W., Viertl David, Lashuel Hilal A., Baas Frank, Scheper Wiep Branched KLVFF tetramers strongly potentiate inhibition of beta-amyloid aggregation Chembiochem 2007;8 (15):1857-1864 [PubMed]
  • van Vught Paul W. J., van Wijk Joost, Bradley Ted E. J., Plasmans Dagmar, Jakobs Marja E., Veldink Jan H., de Jong J. M. B. Vianney, van den Berg Leonard H., Baas Frank Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis Neuromuscular disorders 2007;17 (11-12):964-967 [PubMed]
  • Zinkstok Janneke R. Endophenotypes and genetic risk factors for psychosis 2007. 215p. ISBN 9789090223537. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Linszen Don H., Baas Frank; Co-supervisor: van Amelsvoort Therese A. M. J.)
  • Mook Olaf R., Baas Frank, de Wissel Marit B., Fluiter Kees Evaluation of locked nucleic acid-modified small interfering RNA in vitro and in vivo Molecular cancer therapeutics 2007;6 (3):833-843 [PubMed]
  • van Vught Paul W. J. Genetic Susceptibility factors in ALSUtrecht: Thesis Utrecht University; 2007. 181p. ISBN 9789064642012. [UvA Dissertations Online] Universiteit van Utrecht: Neurologie. (Supervisors: van den Berg Leonard H., Baas Frank; Co-supervisors: Veldink Jan H., Ophoff Roel A.)
  • Hulsebos Theo J. M., Plomp Astrid S., Wolterman Ruud A., Robanus-Maandag Els C., Baas Frank, Wesseling Pieter Germline mutation of INI1/SMARCB1 in familial schwannomatosis American journal of human genetics 2007;80 (4):805-810 [PubMed]
  • van Es Michael A., van Vught Paul W., Blauw Hylke M., Franke Lude, Saris Christiaan G., Andersen Peter M., van den Bosch Ludo, de Jong Sonja W., van 't Slot Ruben, Birve Anna, Lemmens Robin, de Jong Vianney, Baas Frank, Schelhaas Helenius J., Sleegers Kristel, van Broeckhoven Christine, Wokke John H. J., Wijmena Cisca, Robberecht Wim, Veldink Jan H., Ophoff Roel A., van den Berg Leonard H. ITPR2 as a susceptibility gene in sporadic arnyotrophic lateral sclerosis: a genorne-wide association study Lancet neurology 2007;6 (10):869-877 [PubMed]
  • Kuijpers Taco, Baas Frank, Weterman Marian, Tool Anton, Roos Dirk LAD III versus LAD I variant - Response Blood 2007;110 (12):4129-4130 [PubMed]
  • Bienfait H. M. E., Baas F., Koelman J. H. T. M., de Haan R. J., van Engelen B. G. M., Gabreels-Festen A. A. W. M., Ongerboer de Visser B. W., Meggouh F., Weterman M. A. J., de Jonghe P., Timmerman V., de Visser M. Phenotype of Charcot-Marie-Tooth disease Type 2 Neurology 2007;68 (20):1658-1667 [PubMed]
  • Kap Yolanda S., Hoozemans Jeroen J. M., Bodewes Adee J., Zwart Rob, Meijer Onno C., Baas Frank, Scheper Wiep Pin1 levels are downregulated during ER stress in human neuroblastoma cells Neurogenetics 2007;8 (1):21-27 [PubMed]
  • Barth Peter G., Majoie Charles B., Caan Matthan W. A., Weterman Marian A. J., Kyllerman Marten, Smit Leo M. E., Kaplan Richard A., Haas Richard H., Baas Frank, Cobben Jan-Maarten, Poll-The Bwee Tien Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance Brain 2007;130 (Part 9):2258-2266 [PubMed]
  • Scheper W., Hoozemans J. J. M., Hoogenraad C. C., Rozemuller A. J. M., Eikelenboom P., Baas F. Rab6 is increased in Alzheimer's disease brain and correlates with endoplasmic reticulum stress Neuropathology and applied neurobiology 2007;33 (5):523-532 [PubMed]
  • van Ruissen Fred, Baas Frank Serial analysis of gene expression (SAGE) Methods in molecular biology (Clifton, N.J.) 2007;383:41-66 [PubMed]
  • van Ruissen Fred, Baas Frank Serial Analysis of Gene Expressio (SAGE)in: Paul Fisher, editors. Cancer Genomics and Proteomics: Methods and Protocols. Totowa, New Yersey: Humana Press; 2007. p. 41-66, ISBN 9781597453356
  • Ramaglia Valeria, King Rosalind Helen Mary, Nourallah Michelle, Wolterman Ruud, de Jonge Rosalein, Ramkema Marja, Vigar Miriam Ann, van der Wetering Sandra, Morgan Brian Paul, Troost Dirk, Baas Frank The membrane attack complex of the complement system is essential for rapid wallerian degeneration Journal of neuroscience 2007;27 (29):7663-7672 [PubMed]

2006

  • Hoozemans J. J. M., Chafekar S. M., Baas F., Eikelenboom P., Scheper W. Always around, never the same: pathways of amyloid beta induced neurodegeneration throughout the pathogenic cascade of Alzheimer's disease Current medicinal chemistry 2006;13 (22):2599-2605 [PubMed]
  • Züchner Stephan, de Jonghe Peter, Jordanova Albena, Claeys Kristl G., Guergueltcheva Velina, Cherninkova Sylvia, Hamilton Steven R., van Stavern Greg, Krajewski Karen M., Stajich Jeffery, Tournev Ivajlo, Verhoeven Kristien, Langerhorst Christine T., de Visser Marianne, Baas Frank, Bird Thomas, Timmerman Vincent, Shy Michael, Vance Jeffery M. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 Annals of neurology 2006;59 (2):276-281 [PubMed]
  • Meggouh F., Bienfait H. M. E., Weterman M. A. J., de Visser M., Baas F. Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene Neurology 2006;67 (8):1476-1478 [PubMed]
  • Bienfait Henriette M. E., Verhamme Camiel, van Schaik Ivo N., Koelman Johannes H. T. M., Ongerboer de Visser Bram W., de Haan Rob J., Baas Frank, van Engelen Baziel G. M., de Visser Marianne Comparison of CMT1A and CMT2: similarities and differences Journal of neurology 2006;253 (12):1572-1580 [PubMed]
  • ten Asbroek Anneloor L. M. A., van Ruissen Fred, Ruijter Jan M., Baas Frank Comparison of Schwann cell and sciatic nerve transcriptomes indicates that mouse is a valid model for the human peripheral nervous system Journal of neuroscience research 2006;84 (3):542-552 [PubMed]
  • Foncke E. M. J., Gerrits M. C. F., van Ruissen F., Baas F., Hedrich K., Tijssen C. C., Klein C., Tijssen M. A. J. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia Neurology 2006;67 (9):1677-1680 [PubMed]
  • Vance Caroline, Al-Chalabi Ammar, Ruddy Deborah, Smith Bradley N., Hu Xun, Sreedharan Jemeen, Siddique Teepu, Schelhaas H. Jurgen, Kusters Benno, Troost Dirk, Baas Frank, de Jong Vianney, Shaw Christopher E. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3 Brain 2006;129 (Part 4):868-876 [PubMed]
  • Bienfait H. M. E., Faber C. G., Baas F., Gabreëls-Festen A. A. W. M., Koelman J. H. T. M., Hoogendijk J. E., Verschuuren J. J., Wokke J. H. J., de Visser M. Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation Journal of neurology, neurosurgery, and psychiatry 2006;77 (4):534-537 [PubMed]
  • Bonarius Hendrik P. J., Baas Frank, Remmerswaal Ester B. M., van Lier René A. W., ten Berge Ineke J. M., Tak Paul P., de Vries Niek Monitoring the T-cell receptor repertoire at single-clone resolution PLoS ONE 2006;1:e55 [PubMed]
  • de Haas Talitha, Oussoren Esmeralda, Grajkowska Wieslawa, Perek-Polnik Marta, Popovic Mara, Zadravec-Zaletel Lorna, Perera Marzia, Corte Giorgio, Wirths Oliver, van Sluis Peter, Pietsch Torsten, Troost Dirk, Baas Frank, Versteeg Rogier, Kool Marcel OTX1 and OTX2 expression correlates with the clinicopathologic classification of medulloblastomas Journal of neuropathology and experimental neurology 2006;65 (2):176-186 [PubMed]
  • Gerrits M. C. F., Foncke E. M. J., de Haan R., Hedrich K., van de Leemput Y. L. C., Baas F., Ozelius L. J., Speelman J. D., Klein C., Tijssen M. A. J. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia Neurology 2006;66 (5):759-761 [PubMed]
  • Zinkstok Janneke, Schmitz Nicole, van Amelsvoort Therese, de Win Maartje, van den Brink Wim, Baas Frank, Linszen Don The COMT val158met polymorphism and brain morphometry in healthy young adults Neuroscience letters 2006;405 (1-2):34-39 [PubMed]
  • Hoozemans Jeroen J. M., Stieler Jens, van Haastert Elise S., Veerhuis Robert, Rozemuller Annemieke J. M., Baas Frank, Eikelenboom Piet, Arendt Thomas, Scheper Wiep The unfolded protein response affects neuronal cell cycle protein expression: implications for Alzheimer's disease pathogenesis Experimental gerontology 2006;41 (4):380-386 [PubMed]

2005

  • Kalaydjieva Luba, Lochmüller Hanns, Tournev Ivailo, Baas Frank, Beres Judit, Colomer Jaume, Guergueltcheva Velina, Herrmann Ralf, Karcagi Veronika, King Rosalind, Miyata Toshiyuki, Müllner-Eidenböck Andrea, Okuda Tomohiko, Milic Rasic Vedrana, Santos Manuela, Talim Beril, Vilchez Juan, Walter Maggie, Urtizberea Andoni, Merlini Luciano 125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands Neuromuscular disorders 2005;15 (1):65-71 [PubMed]
  • Meggouh Farid, de Visser Marianne, Arts Willem F. M., de Coo Rene I. F. M., van Schaik Ivo N., Baas Frank Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease Annals of neurology 2005;57 (4):589-591 [PubMed]
  • Fluiter Kees, Frieden Miriam, Vreijling Jeroen, Koch Troels, Baas Frank Evaluation of LNA-modified DNAzymes targeting a single nucleotide polymorphism in the large subunit of RNA polymerase II Oligonucleotides 2005;15 (4):246-254 [PubMed]
  • van Ruissen Fred, Ruijter Jan M., Schaaf Gerben J., Asgharnegad Lida, Zwijnenburg Danny A., Kool Marcel, Baas Frank Evaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChips BMC genomics 2005;6:91 [PubMed]
  • ten Asbroek Anneloor L. M. A., Verhamme Camiel, van Groenigen Marjon, Wolterman Ruud, de Kok-Nazaruk Maryla M., Baas Frank Expression profiling of sciatic nerve in a Charcot-Marie-Tooth disease type 1a mouse model Journal of neuroscience research 2005;79 (6):825-835 [PubMed]
  • Schaaf Gerben J., Ruijter Jan M., van Ruissen Fred, Zwijnenburg Danny A., Waaijer Raymond, Valentijn Linda J., Benit-Deekman Jennifer, van Kampen Antoine H. C., Baas Frank, Kool Marcel Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries FASEB journal 2005;19 (3):404-406 [PubMed]
  • van Vught P. W. J., Sutedja N. A., Veldink J. H., Koeleman B. P. C., Groeneveld G. J., Wijmenga C., Uitdehaag B. M. J., de Jong J. M. B. V., Baas F., Wokke J. H. J., van den Berg L. H. Lack of association between VEGF polymorphisms and ALS in a Dutch population Neurology 2005;65 (10):1643-1645 [PubMed]
  • Fluiter Kees, Frieden Miriam, Vreijling Jeroen, Rosenbohm Christoph, de Wissel Marit B., Christensen Signe M., Koch Troels, Ørum Henrik, Baas Frank On the in vitro and in vivo properties of four locked nucleic acid nucleotides incorporated into an anti-H-Ras antisense oligonucleotide Chembiochem 2005;6 (6):1104-1109 [PubMed]
  • Zinkstok J., van Amelsvoort T., de Haan L., Baas F., Linszen D. H. The catechol-O-methyltransferase gene and schizofphreniain: M. V. Lang, editors. Trends in schizophrenia research. S.l.: Nova Science Publishers, Inc; 2005. p. 45-78, ISBN 9781594541544
  • Hoozemans J. J. M., Veerhuis R., van Haastert E. S., Rozemuller J. M., Baas F., Eikelenboom P., Scheper W. The unfolded protein response is activated in Alzheimer's disease Acta neuropathologica 2005;110 (2):165-172 [PubMed]
  • Verhamme C., Baas F. Van gen naar ziekte; de ziekte van Charcot-Marie-Tooth ofwel de hereditaire motorische en sensorische neuropathieën Nederlands tijdschrift voor geneeskunde 2005;149 (27):1505-1509 [PubMed]

2004

  • Scheper Wiep, Zwart Rob, Baas Frank Alternative splicing in the N-terminus of Alzheimer's presenilin 1 Neurogenetics 2004;5 (4):223-227 [PubMed]
  • de Jonge Rosalein R., van Schaik Ivo N., Vreijling Jeroen P., Troost Dirk, Baas Frank Expression of complement components in the peripheral nervous system Human molecular genetics 2004;13 (3):295-302 [PubMed]
  • Moog U., Engelen J. J., Weber B. W., van Gelderen M., Steyaert J., Baas F., Sijstermans H. M., Fryns J. P. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12) Genetic counseling (Geneva, Switzerland) 2004;15 (1):73-80 [PubMed]
  • Kuijpers Taco W., Maianski Nikolai A., Tool Anton T. J., Becker Kolja, Plecko Barbara, Valianpour Fredoen, Wanders Ron J. A., Pereira Rob, van Hove Johan, Verhoeven Arthur J., Roos Dirk, Baas Frank, Barth Peter G. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis Blood 2004;103 (10):3915-3923 [PubMed]
  • Vergouwen M. D. I., Frijns C. J. M., Roos Y. B. W. E. M., Rinkel G. J. E., Baas F., Vermeulen M. Plasminogen activator inhibitor-1 4G allele in the 4G/5G promoter polymorphism increases the occurrence of cerebral ischemia after aneurysmal subarachnoid hemorrhage Stroke; a journal of cerebral circulation 2004;35 (6):1280-1283 [PubMed]
  • Scheper Wiep, Zwart Rob, Baas Frank Rab6 membrane association is dependent of Presenilin 1 and cellular phosphorylation events MOLECULAR BRAIN RESEARCH 2004;122 (1):17-23 [PubMed]
  • van Limpt Vera, Schramm Alexander, van Lakeman Arjan, Sluis Peter, Chan Alvin, van Noesel Max, Baas Frank, Caron Huib, Eggert Angelika, Versteeg Rogier The Phox2B homeobox gene is mutated in sporadic neuroblastomas Oncogene 2004;23 (57):9280-9288 [PubMed]
  • van Vught P. W. J., Veldink J. H., Baas F., van Muiswinkel F. L., van den Berg L. H. Van gen naar ziekte; amyotrofische laterale sclerose Nederlands tijdschrift voor geneeskunde 2004;148 (43):2135-2127 [PubMed]

2003

  • Kwa Marcel S. G., van Schaik Ivo N., de Jonge Rosalein R., Brand Anneke, Kalaydjieva Luba, van Belzen Nico, Vermeulen Marinus, Baas Frank Autoimmunoreactivity to Schwann cells in patients with inflammatory neuropathies Brain 2003;126 (Part 2):361-375 [PubMed]
  • Biancalana Valérie, Caron Olivier, Gallati Sabina, Baas Frank, Kress Wolfram, Novelli Giuseppe, D'Apice Maria Rosaria, Lagier-Tourenne Clotilde, Buj-Bello Anna, Romero Norma B., Mandel Jean-Louis Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype Human genetics 2003;112 (2):135-142 [PubMed]
  • van Kuilenburg André B. P., Meinsma Rutger, Zonnenberg Bernard A., Zoetekouw Lida, Baas Frank, Matsuda Koichi, Tamaki Nanaya, van Gennip Albert H. Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity Clinical cancer research 2003;9 (12):4363-4367 [PubMed]
  • Teunissen Laurien L., Notermans Nicolette C., Franssen Hessel, van Engelen Baziel G. M., Baas Frank, Wokke John H. J. Disease course of Charcot-Marie-Tooth disease type 2 - A 5-year follow-up study Archives of neurology 2003;60 (6):823-828 [PubMed]
  • Mross K., Steinbild S., Baas F., Reil M., Buss P., Mersmann S., Voliotis D., Schwartz B., Brendel E. Drug-drug interaction pharmacokinetic study with the Raf kinase inhibitor (RKI) BAY 43-9006 administered in combination with irinotecan (CPT-11) in patients with solid tumors International journal of clinical pharmacology and therapeutics 2003;41 (12):618-619 [PubMed]
  • Baas Frank Genetic diagnosis of Charcot-Marie-Tooth disease Methods in molecular biology (Clifton, N.J.) 2003;217:177-184 [PubMed]
  • de Jonge R. R. Genetic profiling of the peripheral nervous system 2003. 182p. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Baas F.)
  • Fluiter Kees, ten Asbroek Anneloor L. M. A., de Wissel Marit B., Jakobs Marja E., Wissenbach Margit, Olsson Håkan, Olsen Otto, Oerum Henrik, Baas Frank In vivo tumor growth inhibition and biodistribution studies of locked nucleic acid (LNA) antisense oligonucleotides Nucleic acids research 2003;31 (3):953-962 [PubMed]
  • Fluiter K., Housman D., ten Asbroek A. L. M. A., Baas F. Killing cancer by targeting genes that cancer cells have lost: Allele-specific inhibition, a novel approach to the treatment of genetic disorders Cellular and molecular life sciences 2003;60 (5):834-843 [PubMed]
  • Varon Raymonda, Gooding Rebecca, Steglich Christina, Marns Lorna, Tang Hua, Angelicheva Dora, Yong Kiau Kiun, Ambrugger Petra, Reinhold Anke, Morar Bharti, Baas Frank, Kwa Marcel, Tournev Ivailo, Guerguelcheva Velina, Kremensky Ivo, Lochmüller Hanns, Müllner-Eidenböck Andrea, Merlini Luciano, Neumann Luitgard, Bürger Joachim, Walter Maggie, Swoboda Kathryn, Thomas P. K., von Moers Arpad, Risch Neil, Kalaydjieva Luba Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome Nature genetics 2003;35 (2):185-189 [PubMed]
  • Aartsma-Rus Annemieke, Janson Anneke A. M., Kaman Wendy E., Bremmer-Bout Mattie, den Dunnen Johan T., Baas Frank, van Ommen Gert-Jan B., van Deutekom Judith C. T. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients Human molecular genetics 2003;12 (8):907-914 [PubMed]
  • de Jonge Rosalein R., Vreijling Jeroen P., Meintjes Asker, Kwa Marcel S. G., van Kampen A. H. C., van Schaik Ivo N., Baas Frank Transcriptional profile of the human peripheral nervous system by serial analysis of gene expression Genomics 2003;82 (2):97-108 [PubMed]
  • Ruddy Deborah M., Parton Matthew J., Al-Chalabi Ammar, Lewis Cathryn M., Vance Caroline, Smith Bradley N., Leigh P. Nigel, Powell John F., Siddique Teepu, Meyjes Eelco Postumus, Baas Frank, de Jong Vianney, Shaw Christopher E. Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q American journal of human genetics 2003;73 (2):390-396 [PubMed]

2002

  • ten Asbroek A. L. M. A. Allele specific inhibition. A novel approach to cancer therapy 2002. 143p. ISBN 9789090157856. [UvA Dissertations Online] University of Amsterdam. (Supervisor: de Jong J. M. B. V.; Co-supervisor: Baas F.)
  • Valianpour Fredoen, Wanders Ronald J. A., Overmars Henk, Vreken Peter, van Gennip Albert H., Baas Frank, Plecko Barbara, Santer Rene, Becker Kolja, Barth Peter G. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts Journal of pediatrics 2002;141 (5):729-733 [PubMed]
  • Vandeputte Dmitri A. A., Troost Dirk, Leenstra Sieger, Ijlst-Keizers Helen, Ramkema Marja, Bosch D. Andries, Baas Frank, Das Nab K., Aronica Eleonora Expression and distribution of Id helix-loop-helix proteins in human astrocytic tumors Glia 2002;38 (4):329-338 [PubMed]
  • Michiels Erna M. C., Weiss Marjan M., Hoovers Jan M. N., Baak Jan P. A., Voûte P. A., Baas Frank, Hermsen Mario A. J. A. Genetic alterations in childhood medulloblastoma analyzed by comparative genomic hybridization Journal of pediatric hematology/oncology 2002;24 (3):205-210 [PubMed]
  • Moreno José C., Bikker Hennie, Kempers Marlies J. E., van Trotsenburg A. S. Paul, Baas Frank, de Vijlder Jan J. M., Vulsma Thomas, Ris-Stalpers C. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism New England journal of medicine 2002;347 (2):95-102 [PubMed]
  • Lamandé Shireen R., Mörgelin Matthias, Selan Carly, Jöbsis G. Joost, Baas Frank, Bateman John F. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations Journal of biological chemistry 2002;277 (3):1949-1956 [PubMed]
  • De Ru J. A., van Nesselrooij B. P. M., Baas F. Perceptief gehoorsverlies bij hereditaire motorische en sensibele bij neuropathie-lom de eerste patiënte in Nederland Nederlands tijdschrift voor keel-neus-oorheelkunde 2002;8:105
  • ten Asbroek Anneloor L. M. A., van Groenigen Marjon, Jakobs Marja E., Koevoets Cindy, Janssen Bert, Baas Frank Ribonuclease H1 maps to chromosome 2 and has at least three pseudogene loci in the human genome Genomics 2002;79 (6):818-823 [PubMed]
  • Ruijter Jan M., van Kampen Antoine H. C., Baas Frank Statistical evaluation of SAGE libraries: consequences for experimental design Physiological genomics 2002;11 (2):37-44 [PubMed]
  • ten Asbroek Anneloor L. M. A., van Groenigen Marjon, Nooij Marleen, Baas Frank The involvement of human ribonucleases H1 and H2 in the variation of response of cells to antisense phosphorothioate oligonucleotides European Journal of Biochemistry / FEBS 2002;269 (2):583-592 [PubMed]
  • Fluiter Kees, ten Asbroek Anneloor L. M. A., van Groenigen Marjon, Nooij Marleen, Aalders Maurice C. G., Baas Frank Tumor genotype-specific growth inhibition in vivo by antisense oligonucleotides against a polymorphic site of the large subunit of human RNA polymerase II Cancer research 2002;62 (7):2024-2028 [PubMed]
  • Bienfait H. M. E., Baas F., Gabreëls-Festen A. A. W. M., Koelman J. H. T. M., Langerhorst C. T., de Visser M. Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation Neuromuscular disorders 2002;12 (3):281-285 [PubMed]

2001

  • van Deutekom J. C., Bremmer-Bout M., Janson A. A., Ginjaar I. B., Baas F., den Dunnen J. T., van Ommen G. J. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells Human molecular genetics 2001;10 (15):1547-1554 [PubMed]
  • de Jonge R. R., van Schaik I. N., Vermeulen M., Kwa M. S., Baas F. cAMP is involved in the differentiation of human teratocarcinoma cells Neuroscience letters 2001;311 (1):61-65 [PubMed]
  • Lemstra A. W., van Meegen M., Baas F., van Gool W. A. Een klinisch algoritme voor het gebruik van de 14-3-3-liquortest bij de diagnostiek van de ziekte van Creutzfeldt-Jakob Nederlands tijdschrift voor geneeskunde 2001;145 (30):1467-1471 [PubMed]
  • ten Asbroek A. L., Olsen J., Housman D., Baas F., Stanton V. Genetic variation in mRNA coding sequences of highly conserved genes Physiological genomics 2001;5 (3):113-118 [PubMed]
  • Vandeputte D. A., Meije C. B., van Dartel M., Leenstra S., Ijlst-Keizers H., Das P. K., Troost D., Bosch D. A., Baas F., Hulsebos T. J. GOA, a novel gene encoding a ring finger B-box coiled-coil protein, is overexpressed in astrocytoma Biochemical and biophysical research communications 2001;286 (3):574-579 [PubMed]
  • Veldink J. H., van den Berg L. H., Cobben J. M., Stulp R. P., de Jong J. M., Vogels O. J., Baas F., Wokke J. H., Scheffer H. Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS Neurology 2001;56 (6):749-752 [PubMed]
  • Kwa M. S., van Schaik I. N., Brand A., Baas F., Vermeulen M. Investigation of serum response to PMP22, connexin 32 and P(0) in inflammatory neuropathies Journal of neuroimmunology 2001;116 (2):220-225 [PubMed]
  • van Kuilenburg A. B., Muller E. W., Haasjes J., Meinsma R., Zoetekouw L., Waterham H. R., Baas F., Richel D. J., van Gennip A. H. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency Clinical cancer research 2001;7 (5):1149-1153 [PubMed]
  • Caron H., van Schaik B., van der Mee M., Baas F., Riggins G., van Sluis P., Hermus M. C., van Asperen R., Boon K., Voûte P. A., Heisterkamp S., van Kampen Antoine, Versteeg R. The human transcriptome map: clustering of highly expressed genes in chromosomal domains Science 2001;291 (5507):1289-1292 [PubMed]

2000

  • Lemstra A. W., van Meegen M. T., Vreyling J. P., Meijerink P. H., Jansen G. H., Bulk S., Baas F., van Gool W. A. 14-3-3 testing in diagnosing Creutzfeldt-Jakob disease: a prospective study in 112 patients Neurology 2000;55 (4):514-516 [PubMed]
  • Scheper W., Zwart R., Sluijs P., Annaert W., Gool W. A., Baas F. Alzheimer's presenilin 1 is a putative membrane receptor for rab GDP dissociation inhibitor Human molecular genetics 2000;9 (2):303-310 [PubMed]
  • Chandler D., Angelicheva D., Heather L., Gooding R., Gresham D., Yanakiev P., de Jonge R., Baas F., Dye D., Karagyozov L., Savov A., Blechschmidt K., Keats B., Thomas P. K., King R. H., Starr A., Nikolova A., Colomer J., Ishpekova B., Tournev I., Urtizberea J. A., Merlini L., Butinar D., Chabrol B., Voit T., Baethmann M., Nedkova V., Corches A., Kalaydjieva L. Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries Neuromuscular disorders 2000;10 (8):584-591 [PubMed]
  • Muchir A., Bonne G., van der Kooi A. J., van Meegen M., Baas F., Bolhuis P. A., de Visser M., Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) Human molecular genetics 2000;9 (9):1453-1459 [PubMed]
  • Wijnholds J., Mol C. A., van Deemter L., de Haas M., Scheffer G. L., Baas F., Beijnen J. H., Scheper R. J., Hatse S., de Clercq E., Balzarini J., Borst P. Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs Proceedings of the National Academy of Sciences of the United States of America 2000;97 (13):7476-7481 [PubMed]
  • Bergen A. A., Plomp A. S., Schuurman E. J., Terry S., Breuning M., Dauwerse H., Swart J., Kool M., van Soest S., Baas F., ten Brink J. B., de Jong P. T. Mutations in ABCC6 cause pseudoxanthoma elasticum Nature genetics 2000;25 (2):228-231 [PubMed]
  • Kalaydjieva L., Gresham D., Gooding R., Heather L., Baas F., de Jonge R., Blechschmidt K., Angelicheva D., Chandler D., Worsley P., Rosenthal A., King R. H., Thomas P. K. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom American journal of human genetics 2000;67 (1):47-58 [PubMed]
  • ten Asbroek A. L., Fluiter K., van Groenigen M., Nooij M., Baas F. Polymorphisms in the large subunit of human RNA polymerase II as target for allele-specific inhibition Nucleic acids research 2000;28 (5):1133-1138 [PubMed]
  • Pauws E., Moreno J. C., Tijssen M., Baas F., de Vijlder J. J., Ris-Stalpers C. Serial analysis of gene expression as a tool to assess the human thyroid expression profile and to identify novel thyroidal genes Journal of clinical endocrinology and metabolism 2000;85 (5):1923-1927 [PubMed]
  • van Kampen A. H., van Schaik B. D., Pauws E., Michiels E. M., Ruijter J. M., Caron H. N., Versteeg R., Heisterkamp S. H., Leunissen J. A., Baas F., van der Mee M. USAGE: a web-based approach towards the analysis of SAGE data. Serial Analysis of Gene Expression Bioinformatics (Oxford, England) 2000;16 (10):899-905 [PubMed]

1999

  • Grierson A. J., van Groenigen M., Groot N. P., Lindblad K., Hoovers J. M., Schalling M., de Belleroche J., Baas F. An integrated map of chromosome 18 CAG trinucleotide repeat loci European journal of human genetics 1999;7 (1):12-19 [PubMed]
  • Baas F., Tabak H. F. A tale of tags: report on a HUGO/EU SAGE workshop, 29 January-1 February 1999, Hilversum, The Netherlands European journal of human genetics 1999;7 (4):510-512 [PubMed]
  • Kool M., van der Linden M., de Haas M., Baas F., Borst P. Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells Cancer research 1999;59 (1):175-182 [PubMed]
  • Michiels E. M., Oussoren E., van Groenigen M., Pauws E., Bossuyt P. M., Voûte P. A., Baas F. Genes differentially expressed in medulloblastoma and fetal brain Physiological genomics 1999;1 (2):83-91 [PubMed]
  • Kool M., van der Linden M., de Haas M., Scheffer G. L., de Vree J. M., Smith A. J., Jansen G., Peters G. J., Ponne N., Scheper R. J., Elferink R. P., Baas F., Borst P. MRP3, an organic anion transporter able to transport anti-cancer drugs Proceedings of the National Academy of Sciences of the United States of America 1999;96 (12):6914-6919 [PubMed]
  • Hafezparast M., Witherden A., Nicholson S., Bermingham N., Mackin J., ten Asbroek A., Ball S., Peters J., Baas F., Martin J. E., Fisher E. M. The kinesin light chain gene: its mapping and exclusion in mouse and human forms of inherited motor neuron degeneration Neuroscience letters 1999;273 (1):49-52 [PubMed]
  • Barth P. G., Wanders R. J., Vreken P., Janssen E. A., Lam J., Baas F. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) Journal of inherited metabolic disease 1999;22 (4):555-567 [PubMed]

1998

  • Wikström L., Johansson C., Saltó C., Barlow C., Campos Barros A., Baas F., Forrest D., Thorén P., Vennström B. Abnormal heart rate and body temperature in mice lacking thyroid hormone receptor alpha 1 EMBO journal 1998;17 (2):455-461 [PubMed]
  • Evers R., Kool M., van Deemter L., Janssen H., Calafat J., Oomen L. C., Paulusma C. C., Oude Elferink R. P., Baas F., Schinkel A. H., Borst P. Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA Journal of clinical investigation 1998;101 (7):1310-1319 [PubMed]
  • Valentijn L. J., Baas F. Genetic basis of peripheral neuropathies Progress in brain research 1998;117:249-264 [PubMed]
  • Linssen W. H., de Visser M., Notermans N. C., Vreyling J. P., van Doorn P. A., Wokke J. H., Baas F., Bolhuis P. A. Genetic heterogeneity in Miyoshi-type distal muscular dystrophy Neuromuscular disorders 1998;8 (5):317-320 [PubMed]
  • Kaushik N., Malaspina A., Schalling M., Baas F., de Belleroche J. Isolation and characterization of trinucleotide repeat containing partial transcripts in human spinal cord Neurogenetics 1998;1 (4):239-247 [PubMed]
  • Meijerink P. H., Yanakiev P., Zorn I., Grierson A. J., Bikker H., Dye D., Kalaydjieva L., Baas F. The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene European Journal of Biochemistry / FEBS 1998;254 (2):297-303 [PubMed]

1997

  • Visser M., Sijmons C., Bras J., Arceci R. J., Godfried M., Valentijn L. J., Voûte P. A., Baas F. Allelotype of pediatric rhabdomyosarcoma Oncogene 1997;15 (11):1309-1314 [PubMed]
  • Paulusma C. C., Kool M., Bosma P. J., Scheffer G. L., ter Borg F., Scheper R. J., Tytgat G. N., Borst P., Baas F., Oude Elferink R. P. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome Hepatology (Baltimore, Md.) 1997;25 (6):1539-1542 [PubMed]
  • Kool M., de Haas M., Scheffer G. L., Scheper R. J., van Eijk M. J., Juijn J. A., Baas F., Borst P. Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines Cancer research 1997;57 (16):3537-3547 [PubMed]
  • Jöbsis G. J., Weber J. W., Barth P. G., Keizers H., Baas F., van Schooneveld M. J., van Hilten J. J., Troost D., Geesink H. H., Bolhuis P. A. Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1 Journal of neurology, neurosurgery, and psychiatry 1997;62 (4):367-371 [PubMed]
  • Piosik P. A., van Groenigen M., van Doorn J., Baas F., de Vijlder J. J. Effects of maternal thyroid status on thyroid hormones and growth in congenitally hypothyroid goat fetuses during the second half of gestation Endocrinology 1997;138 (1):5-11 [PubMed]
  • Bikker H., Baas F., de Vijlder J. J. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects Journal of clinical endocrinology and metabolism 1997;82 (2):649-653 [PubMed]
  • Motley A. M., Hettema E. H., Hogenhout E. M., Brites P., ten Asbroek A. L., Wijburg F. A., Baas F., Heijmans H. S., Tabak H. F., Wanders R. J., Distel B. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor Nature genetics 1997;15 (4):377-380 [PubMed]

1996

  • Piosik P. A., van Groenigen M., Ponne N. J., Valentijn L. J., Bolhuis P. A., Baas F. Caprine homologue of rodent 5'-AMP-activated protein kinase subunit and yeast SNF4/CAT3 is down-regulated by thyroid hormone MOLECULAR BRAIN RESEARCH 1996;40 (2):240-253 [PubMed]
  • Meijerink P. H., Hoogendijk J. E., Gabreëls-Festen A. A., Zorn I., Veldman H., Baas F., de Visser M., Bolhuis P. A. Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies Annals of neurology 1996;40 (4):672-675 [PubMed]
  • Piosik P. A., van Groenigen M., Baas F. Effect of thyroid hormone deficiency on RC3/neurogranin mRNA expression in the prenatal and adult caprine brain MOLECULAR BRAIN RESEARCH 1996;42 (2):227-235 [PubMed]
  • Jobsis G. J., Bolhuis P. A., Boers J. M., Baas F., Wolterman R. A., Hensels G. W., de Visser M. Genetic localization of Bethlem myopathy Neurology 1996;46 (3):779-782 [PubMed]
  • Visser M., Bras J., Sijmons C., Devilee P., Wijnaendts L. C., van der Linden J. C., Voûte P. A., Baas F. Microsatellite instability in childhood rhabdomyosarcoma is locus specific and correlates with fractional allelic loss Proceedings of the National Academy of Sciences of the United States of America 1996;93 (17):9172-9176 [PubMed]
  • Smit J. J., Baas F., Hoogendijk J. E., Jansen G. H., van der Valk M. A., Schinkel A. H., Berns A. J., Acton D., Nooter K., Burger H., Smith S. J., Borst P. Peripheral neuropathy in mice transgenic for a human MDR3 P-glycoprotein mini-gene Journal of neuroscience 1996;16 (20):6386-6393 [PubMed]
  • Jöbsis G. J., Keizers H., Vreijling J. P., de Visser M., Speer M. C., Wolterman R. A., Baas F., Bolhuis P. A. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures Nature genetics 1996;14 (1):113-115 [PubMed]

1995

  • Eijdems E. W., Zaman G. J., de Haas M., Versantvoort C. H., Flens M. J., Scheper R. J., Kamst E., Borst P., Baas F. Altered MRP is associated with multidrug resistance and reduced drug accumulation in human SW-1573 cells British journal of cancer 1995;72 (2):298-306 [PubMed]
  • Valentijn L. J., Ouvrier R. A., van den Bosch N. H., Bolhuis P. A., Baas F., Nicholson G. A. Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation Human mutation 1995;5 (1):76-80 [PubMed]
  • Jöbsis G. J., Louwerse E. S., de Visser M., Wolterman R. A., Bolhuis P. A., Busch H. F., Brüggenwirth H. T., Baas F., Wiersinga W. M., Koelman J. H. Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects Journal of the neurological sciences 1995;129 (Suppl):56-57 [PubMed]
  • Florijn R. J., Bonden L. A., Vrolijk H., Wiegant J., Vaandrager J. W., Baas F., den Dunnen J. T., Tanke H. J., van Ommen G. J., Raap A. K. High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes Human molecular genetics 1995;4 (5):831-836 [PubMed]
  • Bikker H., Vulsma T., Baas F., de Vijlder J. J. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis Human mutation 1995;6 (1):9-16 [PubMed]
  • Eijdems E. W., de Haas M., Coco-Martin J. M., Ottenheim C. P., Zaman G. J., Dauwerse H. G., Breuning M. H., Twentyman P. R., Borst P., Baas F. Mechanisms of MRP over-expression in four human lung-cancer cell lines and analysis of the MRP amplicon International journal of cancer. Journal international du cancer 1995;60 (5):676-684 [PubMed]
  • Piosik P. A., van Groenigen M., Ponne N. J., Bolhuis P. A., Baas F. RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism MOLECULAR BRAIN RESEARCH 1995;29 (1):119-130 [PubMed]
  • Eijdems E. W., de Haas M., Timmerman A. J., van der Schans G. P., Kamst E., de Nooij J., Astaldi Ricotti G. C., Borst P., Baas F. Reduced topoisomerase II activity in multidrug-resistant human non-small cell lung cancer cell lines British journal of cancer 1995;71 (1):40-47 [PubMed]
  • Zaman G. J., Lankelma J., van Tellingen O., Beijnen J., Dekker H., Paulusma C., Oude Elferink R. P., Baas F., Borst P. Role of glutathione in the export of compounds from cells by the multidrug-resistance-associated protein Proceedings of the National Academy of Sciences of the United States of America 1995;92 (17):7690-7694 [PubMed]

1994

  • Bikker H., den Hartog M. T., Baas F., Gons M. H., Vulsma T., de Vijlder J. J. A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism Journal of clinical endocrinology and metabolism 1994;79 (1):248-252 [PubMed]
  • Nicholson G. A., Valentijn L. J., Cherryson A. K., Kennerson M. L., Bragg T. L., DeKroon R. M., Ross D. A., Pollard J. D., McLeod J. G., Bolhuis P. A., Baas F. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies Nature genetics 1994;6 (3):263-266 [PubMed]
  • Mariman E. C., Gabreëls-Festen A. A., van Beersum S. E., Jongen P. J., van de Looij E., Baas F., Bolhuis P. A., Ropers H. H., Gabreëls F. J. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies Human genetics 1994;93 (2):151-156 [PubMed]
  • Mariman E. C., Gabreëls-Festen A. A., van Beersum S. E., Valentijn L. J., Baas F., Bolhuis P. A., Jongen P. J., Ropers H. H., Gabreëls F. J. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies Annals of neurology 1994;36 (4):650-655 [PubMed]
  • Janssen E. A., Hensels G. W., van Oost B. A., Hamel B. C., Kemp S., Baas F., Weber J. W., Barth P. G., Bolhuis P. A. The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28 Neuromuscular disorders 1994;4 (5-6):455-461 [PubMed]
  • Zaman G. J., Flens M. J., van Leusden M. R., de Haas M., Mülder H. S., Lankelma J., Pinedo H. M., Scheper R. J., Baas F., Broxterman H. J. The human multidrug resistance-associated protein MRP is a plasma membrane drug-efflux pump Proceedings of the National Academy of Sciences of the United States of America 1994;91 (19):8822-8826 [PubMed]

1993

  • Hoogendijk J. E., Janssen E. A., Gabreëls-Festen A. A., Hensels G. W., Joosten E. M., Gabreëls F. J., Zorn I., Valentijn L. J., Baas F., Ongerboer de Visser B. W. Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a) Neurology 1993;43 (5):1010-1015 [PubMed]
  • Valentijn L. J., Baas F., Zorn I., Hensels G. W., de Visser M., Bolhuis P. A. Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A Human molecular genetics 1993;2 (12):2143-2146 [PubMed]
  • Zaman G. J., Versantvoort C. H., Smit J. J., Eijdems E. W., de Haas M., Smith A. J., Broxterman H. J., Mulder N. H., de Vries E. G., Baas F. Analysis of the expression of MRP, the gene for a new putative transmembrane drug transporter, in human multidrug resistant lung cancer cell lines Cancer research 1993;53 (8):1747-1750 [PubMed]
  • Schinkel A. H., Arceci R. J., Smit J. J., Wagenaar E., Baas F., Dollé M., Tsuruo T., Mechetner E. B., Roninson I. B., Borst P. Binding properties of monoclonal antibodies recognizing external epitopes of the human MDR1 P-glycoprotein International journal of cancer. Journal international du cancer 1993;55 (3):478-484 [PubMed]
  • Borst P., Schinkel A. H., Smit J. J., Wagenaar E., van Deemter L., Smith A. J., Eijdems E. W., Baas F., Zaman G. J. Classical and novel forms of multidrug resistance and the physiological functions of P-glycoproteins in mammals Pharmacology & therapeutics 1993;60 (2):289-299 [PubMed]
  • Dauwerse J. G., Wessels J. W., Giles R. H., Wiegant J., van der Reijden B. A., Fugazza G., Jumelet E. A., Smit E., Baas F., Raap A. K. Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo Human molecular genetics 1993;2 (10):1527-1534 [PubMed]
  • Kulkens T., Bolhuis P. A., Wolterman R. A., Kemp S., te Nijenhuis S., Valentijn L. J., Hensels G. W., Jennekens F. G., de Visser M., Hoogendijk J. E., Baas F. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B Nature genetics 1993;5 (1):35-39 [PubMed]
  • van Groenigen M., Valentijn L. J., Baas F. Identification of a functional initiator sequence in the human MDR1 promoter BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION 1993;1172 (1-2):138-146 [PubMed]
  • Bolhuis P. A., Ponne N. J., Bikker H., Baas F., Vianney de Jong J. M. Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1993;1182 (2):142-146 [PubMed]
  • Arceci R. J., Stieglitz K., Bras J., Schinkel A., Baas F., Croop J. Monoclonal antibody to an external epitope of the human mdr1 P-glycoprotein Cancer research 1993;53 (2):310-317 [PubMed]
  • Hensels G. W., Janssen E. A., Hoogendijk J. E., Valentijn L. J., Baas F., Bolhuis P. A. Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a Clinical chemistry 1993;39 (9):1845-1849 [PubMed]

1992

  • Hoogendijk J. E., Hensels G. W., Gabreëls-Festen A. A., Gabreëls F. J., Janssen E. A., de Jonghe P., Martin J. J., van Broeckhoven C., Valentijn L. J., Baas F. De-novo mutation in hereditary motor and sensory neuropathy type I Lancet 1992;339 (8801):1081-1082 [PubMed]
  • Eijdems E. W., Borst P., Jongsma A. P., de Jong S., de Vries E. G., van Groenigen M., Versantvoort C. H., Nieuwint A. W., Baas F. Genetic transfer of non-P-glycoprotein-mediated multidrug resistance (MDR) in somatic cell fusion: dissection of a compound MDR phenotype Proceedings of the National Academy of Sciences of the United States of America 1992;89 (8):3498-3502 [PubMed]
  • Valentijn L. J., Baas F., Wolterman R. A., Hoogendijk J. E., van den Bosch N. H., Zorn I., Gabreëls-Festen A. W., de Visser M., Bolhuis P. A. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A Nature genetics 1992;2 (4):288-291 [PubMed]
  • Bikker H., Baas F., de Vijlder J. J. Structure and characterization of a 50 bp repeat in intron 10 of the human thyroid peroxidase gene Molecular and cellular endocrinology 1992;83 (1):21-28 [PubMed]
  • Valentijn L. J., Bolhuis P. A., Zorn I., Hoogendijk J. E., van den Bosch N., Hensels G. W., Stanton V. P., Housman D. E., Fischbeck K. H., Ross D. A., Nicholson G. A., Meershoek E. J., Dauwerse H. G., van Ommen G. J. B., Baas F. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A Nature genetics 1992;1 (3):166-170 [PubMed]

1991

  • Hoogendijk J. E., Baas F., de Visser M., Bolhuis P. A. Duplicatie van DNA bij hereditaire motorische en sensibele neuropathie (ziekte van Charcot-Marie-Tooth) type Ia Nederlands tijdschrift voor geneeskunde 1991;135 (51):2412-2414 [PubMed]
  • Raeymaekers P., Timmerman V., Nelis E., de Jonghe P., Hoogendijk J. E., Baas F., Barker D. F., Martin J. J., de Visser M., Bolhuis P. A. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group Neuromuscular disorders 1991;1 (2):93-97 [PubMed]
  • Bolhuis P. A., Hensels G. W., Hulsebos T. J., Baas F., Barth P. G. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28 American journal of human genetics 1991;48 (3):481-485 [PubMed]
  • Hoogendijk J. E., Hensels G. W., Zorn I., Valentijn L., Janssen E. A., de Visser M., Barker D. F., Ongerboer de Visser B. W., Baas F., Bolhuis P. A. The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2 Human genetics 1991;88 (2):215-218 [PubMed]

1990

  • Herweijer H., Sonneveld P., Baas F., Nooter K. Expression of mdr1 and mdr3 multidrug-resistance genes in human acute and chronic leukemias and association with stimulation of drug accumulation by cyclosporine Journal of the National Cancer Institute 1990;82 (13):1133-1140 [PubMed]
  • Arceci R. J., Baas F., Raponi R., Horwitz S. B., Housman D., Croop J. M. Multidrug resistance gene expression is controlled by steroid hormones in the secretory epithelium of the uterus Molecular reproduction and development 1990;25 (2):101-109 [PubMed]
  • Baas F., Jongsma A. P., Broxterman H. J., Arceci R. J., Housman D., Scheffer G. L., Riethorst A., van Groenigen M., Nieuwint A. W., Joenje H. Non-P-glycoprotein mediated mechanism for multidrug resistance precedes P-glycoprotein expression during in vitro selection for doxorubicin resistance in a human lung cancer cell line Cancer research 1990;50 (17):5392-5398 [PubMed]

1989

  • van Ommen G. J., Sterk A., Mercken L. O., Arnberg A. C., Baas F., de Vijlder J. J. Studies on the structures of the normal and abnormal goat thyroglobulin genes Biochimie 1989;71 (2):211-221 [PubMed]

1988

  • Henglein B., Lipp M., Hartl P., Adolph S., Hameister H., Eick D., Polack A., Joos S., Baas F., Lenoir G. M. Burkitt's lymphoma variant translocations: distribution of chromosomal breakpoints and perturbated regulation of a mutated c-myc gene Current topics in microbiology and immunology 1988;141:165-171 [PubMed]
  • van der Bliek A. M., Baas F., van der Velde-Koerts T., Biedler J. L., Meyers M. B., Ozols R. F., Hamilton T. C., Joenje H., Borst P. Genes amplified and overexpressed in human multidrug-resistant cell lines Cancer research 1988;48 (21):5927-5932 [PubMed]
  • Baas F., Borst P. The tissue dependent expression of hamster P-glycoprotein genes FEBS letters 1988;229 (2):329-332 [PubMed]

1987

  • Kok K., van Dijk J. E., Sterk A., Baas F., van Ommen G. J., de Vijlder J. J. Autosomal recessive inheritance of goiter in Dutch goats Journal of heredity 1987;78 (5):298-300 [PubMed]
  • van der Bliek A. M., Baas F., ten Houte de Lange T., Kooiman P. M., van der Velde-Koerts T., Borst P. The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver EMBO journal 1987;6 (11):3325-3331 [PubMed]
  • Landegent J. E., Jansen in de Wal N., Dirks R. W., Baas F., van der Ploeg M. Use of whole cosmid cloned genomic sequences for chromosomal localization by non-radioactive in situ hybridization Human genetics 1987;77 (4):366-370 [PubMed]

1986

  • Baas F., van Ommen G. J., Bikker H., Arnberg A. C., de Vijlder J. J. The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb Nucleic acids research 1986;14 (13):5171-5186 [PubMed]

1985

  • Landegent J. E., Jansen in de Wal N., van Ommen G. J., Baas F., de Vijlder J. J., van Duijn P., van der Ploeg M. Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization Nature 1985;317 (6033):175-177 [PubMed]
  • Bolhuis P. A., Baas F., van Ommen G. J., Pearson P. L., de Visser M. DNA-onderzoek en erfelijkheidadviezen Nederlands tijdschrift voor geneeskunde 1985;129 (24):1134-1136 [PubMed]
  • Baas F., Bikker H., Geurts van Kessel A., Melsert R., Pearson P. L., de Vijlder J. J., van Ommen G. J. The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24 Human genetics 1985;69 (2):138-143 [PubMed]

1984

  • Baas F., Bikker H., van Ommen G. J., de Vijlder J. J. Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele Human genetics 1984;67 (3):301-305 [PubMed]

1983

  • van Ommen G. J., Arnberg A. C., Baas F., Brocas H., Sterk A., Tegelaers W. H., Vassart G., de Vijlder J. J. The human thyroglobulin gene contains two 15-17 kb introns near its 3'-end Nucleic acids research 1983;11 (8):2273-2285 [PubMed]