MEng PhD F. van Ruissen publications

2018

• 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]

2017

• 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]
• 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]

2016

• van Doormaal Tristan P. C., van Ruissen Fred, Miller Kai J., Hoogendijk Jessica E. Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B Neuromuscular disorders 2016;26 (12):837-840 [PubMed]
• Jain Puneet, Sharma Suvasini, van Ruissen Fred, Aneja Satinder Myoclonus-dystonia: An under-recognized entity - Report of 5 cases Neurology India 2016;64 (5):980-983 [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]

2014

• 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]

2012

• Voermans Nicol C., Kleefstra Tjitske, Gabreëls-Festen Anneke A., Faas Brigitte H. W., Kamsteeg Erik-Jan, Houlden Henry, Laurá Matilde, Polke James M., Pandraud Amelie, van Ruissen Fred, van Engelen Baziel G., Reilly Mary M. Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion Journal of the peripheral nervous system 2012;17 (2):223-225 [PubMed]

2011

• 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]
• 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

• 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]
• Vrancken Alexander F. J. E., Spliet Wim G. M., van Ruissen Fred X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation Journal of the peripheral nervous system 2010;15 (2):156-157 [PubMed]

2009

• 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]

2008

• 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]
• 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]
• Schaaf Gerben J., van Ruissen Fred, van Kampen Antoine, Kool Marcel, Ruijter Jan M. Statistical comparison of two or more SAGE libraries: one tag at a time Methods in molecular biology (Clifton, N.J.) 2008;387:151-168 [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

• 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
• Schaaf Gerben J., van Ruissen Fred, van Kampen Antoine, Kool Marcel, Ruijter Jan M. Statistical Comparison of Two or More SAGE Libraries: One Tag at the Time Methods in molecular biology (Clifton, N.J.) 2007;397:151-168

2006

• 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]

2005

• 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]
• 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]

2003

• Jansen Bastiaan J. H., van Ruissen Fred, Cerneus Stefanie, Cloin Wendy, Bergers Mieke, van Erp Piet E. J., Schalkwijk Joost Tumor necrosis factor related apoptosis inducing ligand triggers apoptosis in dividing but not in differentiating human epidermal keratinocytes Journal of investigative dermatology 2003;121 (6):1433-1439 [PubMed]

2002

• van Ruissen Fred, Jansen Bastiaan J. H., de Jongh Gys J., Zeeuwen Patrick L. J. M., Schalkwijk Joost A partial transcriptome of human epidermis Genomics 2002;79 (5):671-678 [PubMed]