Prof. G.S. Salomons PhD publications

2021

• Walters Dana C., Jansen Erwin E. W., Salomons Gajja S., Arning Erland, Ashcraft Paula, Bottiglieri Teodoro, Roullet Jean-Baptiste, Gibson K. Michael Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity Epilepsy research 2021;170 [PubMed]

2020

• Kirby Trevor, Walters Dana C., Brown Madalyn, Jansen Erwin, Salomons Gajja S., Turgeon Coleman, Rinaldo Piero, Arning Erland, Ashcraft Paula, Bottiglieri Teodoro, Roullet Jean-Baptiste, Gibson K. Michael Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes (Metabolic Brain Disease, (2020), 35, 4, (601-614), 10.1007/s11011-020-00550-1) Metabolic brain disease 2020;35 (5):849-850 [PubMed]
• Manole Andreea, Efthymiou Stephanie, O'Connor Emer, Mendes Marisa I., Jennings Matthew, Maroofian Reza, Davagnanam Indran, Mankad Kshitij, Lopez Maria Rodriguez, Salpietro Vincenzo, Harripaul Ricardo, Badalato Lauren, Walia Jagdeep, Francklyn Christopher S., Athanasiou-Fragkouli Alkyoni, Sullivan Roisin, Desai Sonal, Baranano Kristin, Zafar Faisal, Rana Nuzhat, Ilyas Muhammed, Horga Alejandro, Kara Majdi, Mattioli Francesca, Goldenberg Alice, Griffin Helen, Piton Amelie, Henderson Lindsay B., Kara Benyekhlef, Aslanger Ayca Dilruba, Raaphorst Joost, Pfundt Rolph, Portier Ruben, Shinawi Marwan, Kirby Amelia, Christensen Katherine M., Wang Lu, Rosti Rasim O., Paracha Sohail A., Sarwar Muhammad T., Jenkins Dagan, Ahmed Jawad, Santoni Federico A., Ranza Emmanuelle, Iwaszkiewicz Justyna, Cytrynbaum Cheryl, Weksberg Rosanna, Wentzensen Ingrid M., Guillen Sacoto Maria J., Salomons Gajja S. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects American journal of human genetics 2020;107 (2):311-324 [PubMed]
• Pop Ana, Smith Desirée E. C., Kirby Trevor, Walters Dana, Gibson K. Michael, Mahmoudi Soufiane, van Dooren Silvy J. M., Kanhai Warsha A., Fernandez-Ojeda Matilde R., Wever Eric J. M., Koster Janet, Waterham Hans R., Grob Bram, Roos Birthe, Wamelink Mirjam M. C., Chen Justin, Natesan Senthil, Salomons Gajja S. Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency Molecular genetics and metabolism 2020;130 (3):172-178 [PubMed]
• Lenz Dominic, Smith Desirée E. C., Crushell Ellen, Husain Ralf A., Salomons Gajja S., Alhaddad Bader, Bernstein Jonathan A., Bianzano Alyssa, Biskup Saskia, Brennenstuhl Heiko, Caldari Dominique, Dikow Nicola, Haack Tobias B., Hanson-Kahn Andrea, Harting Inga, Horn Denise, Hughes Joanne, Huijberts Maya, Isidor Bertrand, Kathemann Simone, Kopajtich Robert, Kotzaeridou Urania, Küry S. bastien, Lainka Elke, Laugwitz Lucia, Lupski James R., Posey Jennifer E., Reynolds Claire, Rosenfeld Jill A., Schröter Julian, Vansenne Fleur, Wagner Matias, Weiß Claudia, Wolffenbuttel Bruce H. R., Wortmann Saskia B., Kölker Stefan, Hoffmann Georg F., Prokisch Holger, Mendes Marisa I., Staufner Christian Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 Genetics in medicine 2020;22 (11):1863-1873 [PubMed]
• Tabolacci Elisabetta, Molinario Clelia, Marangi Giuseppe, Nobile Veronica, Arena Vincenzo, Mendes Marisa I., Smith Desiree E. C., Salomons Gajja S., Tana Milena, Costa Simonetta, Vento Giovanni, Genuardi Maurizio Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization Clinical genetics 2020 [PubMed]
• Brown Madalyn, Turgeon Coleman, Rinaldo Piero, Pop Ana, Salomons Gajja S., Roullet Jean-Baptiste, Michael Gibson K. Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency JIMD reports 2020;53 (1):29-38 [PubMed]
• Wang Lu, Li Zhen, Sievert David, Smith Desirée E. C., Mendes Marisa I., Chen Dillon Y., Stanley Valentina, Ghosh Shereen, Wang Yulu, Kara Majdi, Aslanger Ayca Dilruba, Rosti Rasim O., Houlden Henry, Salomons Gajja S., Gleeson Joseph G. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly Nature communications 2020;11 (1) [PubMed]
• Beerepoot Shanice, van Dooren Silvy J. M., Salomons Gajja S., Boelens Jaap Jan, Jacobs Edwin H., van der Knaap Marjo S., van Kuilenburg André B. P., Wolf Nicole I. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients Neurogenetics 2020;21 (4):289-299 [PubMed]
• DiBacco Melissa L., Pop Ana, Salomons Gajja S., Hanson Ellen, Roullet Jean-Baptiste, Gibson K. Michael, Pearl Phillip L. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency Neurology 2020;95 (19):e2675-e2682 [PubMed]
• Al Balushi Aaisha, Matviychuk Diana, Jobling Rebekah, Salomons Gajja S., Blaser Susan, Mercimek-Andrews Saadet Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic JIMD reports 2020;51 (1):3-10 [PubMed]
• Kirby Trevor, Walters Dana C., Brown Madalyn, Jansen Erwin, Salomons Gajja S., Turgeon Coleman, Rinaldo Piero, Arning Erland, Ashcraft Paula, Bottiglieri Teodoro, Roullet Jean-Baptiste, Gibson K. Michael Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes Metabolic brain disease 2020;35 (4):601-614 [PubMed]
• Mendes Marisa I., Green Lydia M. C., Bertini Enrico, Tonduti Davide, Aiello Chiara, Smith Desiree, Salsano Ettore, Beerepoot Shanice, Hertecant Jozef, von Spiczak Sarah, Livingston John H., Emrick Lisa, Fraser Jamie, Russell Laura, Bernard Genevieve, Magri Stefania, di Bella Daniela, Taroni Franco, Koenig Mary K., Moroni Isabella, Cappuccio Gerarda, Brunetti-Pierri Nicola, Rhee Jullie, Mendelsohn Bryce A., Helbig Ingo, Helbig Katherine, Muhle Hiltrud, Ismayl Omar, Vanderver Adeline L., Salomons Gajja S., van der Knaap Marjo S., Wolf Nicole I. RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum Annals of clinical and translational neurology 2020;7 (1):83-93 [PubMed]
• Lenz Dominic, Stahl Mirjam, Seidl Elias, Schöndorf Dominik, Brennenstuhl Heiko, Gesenhues Florian, Heinzmann Tina, Longerich Thomas, Mendes Marisa I., Prokisch Holger, Salomons Gajja S., Schön Carola, Smith Desirée E. C., Sommerburg Olaf, Wagner Matias, Westhoff Jens H., Reiter Karl, Staufner Christian, Griese Matthias Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants Pediatric pulmonology 2020;55 (11):3057-3066 [PubMed]
• Chan Kore, Hoon Mrinalini, Pattnaik Bikash R., Ver Hoeve James N., Wahlgren Brad, Gloe Shawna, Williams Jeremy, Wetherbee Brenna, Kiland Julie A., Vogel Kara R., Jansen Erwin, Salomons Gajja, Walters Dana, Roullet Jean-Baptiste, Gibson K. Michael, McLellan Gillian J. Vigabatrin-Induced Retinal Functional Alterations and Second-Order Neuron Plasticity in C57BL/6J Mice Investigative ophthalmology & visual science 2020;61 (2):17 [PubMed]

2019

• Theil Arjan F., Botta Elena, Raams Anja, Smith Desiree E. C., Mendes Marisa I., Caligiuri Giuseppina, Giachetti Sarah, Bione Silvia, Carriero Roberta, Liberi Giordano, Zardoni Luca, Swagemakers Sigrid M. A., Salomons Gajja S., Sarasin Alain, Lehmann Alan, van der Spek Peter J., Ogi Tomoo, Hoeijmakers Jan H. J., Vermeulen Wim, Orioli Donata Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype American journal of human genetics 2019;105 (2):434-440 [PubMed]
• van der Knaap Marjo S., Bugiani Marianna, Mendes Marisa I., Riley Lisa G., Smith Desiree E. C., Rudinger-Thirion Joëlle, Frugier Magali, Breur Marjolein, Crawford Joanna, van Gaalen Judith, Schouten Meyke, Willems Marjolaine, Waisfisz Quinten, Mau-Them Frederic Tran, Rodenburg Richard J., Taft Ryan J., Keren Boris, Christodoulou John, Depienne Christel, Simons Cas, Salomons Gajja S., Mochel Fanny Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy Neurology 2019;92 (11):E1225-E1237 [PubMed]
• Williams Monique, Valayannopoulos Vassili, Altassan Ruqaiah, Chung Wendy K., Heijboer Annemieke C., Keng Wei Teik, Lapatto Risto, McClean Patricia, Mulder Margot F., Tylki-Szymańska Anna, Walenkamp Marie-Jose E., Alfadhel Majid, Alakeel Hajar, Salomons Gajja S., Eyaid Wafaa, Wamelink Mirjam M. C. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients Journal of inherited metabolic disease 2019;42 (1):147-158 [PubMed]
• Kuo Molly E., Theil Arjan F., Kievit Anneke, Malicdan May Christine, Introne Wendy J., Christian Thomas, Verheijen Frans W., Smith Desiree E. C., Mendes Marisa I., Hussaarts-Odijk Lidia, van der Meijden Eric, van Slegtenhorst Marjon, Wilke Martina, Vermeulen Wim, Raams Anja, Groden Catherine, Shimada Shino, Meyer-Schuman Rebecca, Hou Ya Ming, Gahl William A., Antonellis Anthony, Salomons Gajja S., Mancini Grazia M. S. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails American journal of human genetics 2019;104 (3):520-529 [PubMed]
• Pop Ana, Struys Eduard A., Jansen Erwin E. W., Fernandez Matilde R., Kanhai Warsha A., van Dooren Silvy J. M., Ozturk Senay, van Oostendorp Justin, Lennertz Pascal, Kranendijk Martijn, van der Knaap Marjo S., Gibson K. Michael, van Schaftingen Emile, Salomons Gajja S. D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants Human mutation 2019;40 (7):975-982 [PubMed]
• Yan Huifang, Helman Guy, Murthy Swetha E., Ji Haoran, Crawford Joanna, Kubisiak Thomas, Bent Stephen J., Xiao Jiangxi, Taft Ryan J., Coombs Adam, Wu Ye, Pop Ana, Li Dongxiao, de Vries Linda S., Jiang Yuwu, Salomons Gajja S., van der Knaap Marjo S., Patapoutian Ardem, Simons Cas, Burmeister Margit, Wang Jingmin, Wolf Nicole I. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy American journal of human genetics 2019;105 (5):996-1004 [PubMed]
• Brown Madalyn N., Walters Dana C., Schmidt Michelle A., Hill James, McConnell Alice, Jansen Erwin E. W., Salomons Gajja S., Arning Erland, Bottiglieri Teodoro, Gibson K. Michael, Roullet Jean-Baptiste Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism Journal of inherited metabolic disease 2019;42 (5):1030-1039 [PubMed]
• Walters Dana C., Arning Erland, Bottiglieri Teodoro, Jansen Erwin E. W., Salomons Gajja S., Brown Madalyn N., Schmidt Michelle A., Ainslie Garrett R., Roullet Jean-Baptiste, Gibson K. Michael Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues Neurochemistry international 2019;125:151-162 [PubMed]
• Walters Dana C., Jansen Erwin E. W., Ainslie Garrett R., Salomons Gajja S., Brown Madalyn N., Schmidt Michelle A., Roullet Jean-Baptiste, Gibson K. M. Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use-limiting visual field defects Pharmacology research and perspectives 2019;7 (1):e00456 [PubMed]
• Coughlin Curtis R., Swanson Michael A., Spector Elaine, Meeks Naomi J. L., Kronquist Kathryn E., Aslamy Mezhgan, Wempe Michael F., van Karnebeek Clara D. M., Gospe Sidney M., Aziz Verena G., Tsai Becky P., Gao Hanlin, Nagy Peter L., Hyland Keith, van Dooren Silvy J. M., Salomons Gajja S., van Hove Johan L. K. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy Journal of inherited metabolic disease 2019;42 (2):353-361 [PubMed]

2018

• Pop Ana, Williams Monique, Struys Eduard A., Monné Magnus, Jansen Erwin E. W., de Grassi Anna, Kanhai Warsha A., Scarcia Pasquale, Ojeda Matilde R. Fernandez, Porcelli Vito, van Dooren Silvy J. M., Lennertz Pascal, Nota Benjamin, Abdenur Jose E., Coman David, Das Anibh Martin, el-Gharbawy Areeg, Nuoffer Jean-Marc, Polic Branka, Santer René, Weinhold Natalie, Zuccarelli Britton, Palmieri Ferdinando, Palmieri Luigi, Salomons Gajja S. An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants Journal of inherited metabolic disease 2018;41 (2):169-180 [PubMed]
• Mendes Marisa I., Gutierrez Salazar Mariana, Guerrero Kether, Thiffault Isabelle, Salomons Gajja S., Gauquelin Laurence, Tran Luan T., Forget Diane, Gauthier Marie-Soleil, Waisfisz Quinten, Smith Desiree E. C., Simons Cas, van der Knaap Marjo S., Marquardt Iris, Lemes Aida, Mierzewska Hanna, Weschke Bernhard, Koehler Wolfgang, Coulombe Benoit, Wolf Nicole I., Bernard Geneviève Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy American journal of human genetics 2018;102 (4):676-684 [PubMed]
• Kamps Rick, Szklarczyk Radek, Theunissen Tom E., Hellebrekers Debby M. E. I., Sallevelt Suzanne C. E. H., Boesten Iris B., de Koning Bart, van den Bosch Bianca J., Salomons Gajja S., Simas-Mendes Marisa, Verdijk Rob, Schoonderwoerd Kees, de Coo Irenaeus F. M., Vanoevelen Jo M., Smeets Hubert J. M. Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease European journal of human genetics 2018;26 (4):537-551 [PubMed]
• Gao Ya, de Wit Maurice, Struys Eduard A., van der Linde Herma C. Z., Salomons Gajja S., Lamfers Martine L. M., Willemsen Rob, Sillevis Smitt Peter A. E., French Pim J. Idh1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis PLoS ONE 2018;13 (6) [PubMed]
• Hewson Stacy, Brunga Ledia, Ojeda Matilde Fernandez, Imhof Elizabeth, Patel Jaina, Zak Maria, Donner Elizabeth J., Kobayashi Jeff, Salomons Gajja S., Mercimek-Andrews Saadet Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018;45 (1):93-96 [PubMed]
• Bruun Theodora U. J., Sidky Sarah, Bandeira Anabela O., Debray Francoise-Guillaume, Ficicioglu Can, Goldstein Jennifer, Joost Kairit, Koeberl Dwight D., Luísa Diogo, Nassogne Marie-Cecile, O’Sullivan Siobhan, Õunap Katrin, Schulze Andreas, van Maldergem Lionel, Salomons Gajja S., Mercimek-Andrews Saadet Treatment outcome of creatine transporter deficiency: international retrospective cohort study Metabolic brain disease 2018;33 (3):875-884 [PubMed]
• Khaikin Yannay, Sidky Sarah, Abdenur Jose, Anastasi Arnaud, Ballhausen Diana, Buoni Sabrina, Chan Alicia, Cheillan David, Dorison Nathalie, Goldenberg Alice, Goldstein Jennifer, Hofstede Floris C., Jacquemont Marie-Line, Koeberl Dwight D., Lion-Francois Laurence, Lund Allan Meldgaard, Mention Karine, Mundy Helen, O'Rourke Declan, Pitelet Gaele, Raspall-Chaure Miquel, Tassini Maria, Billette de Villemeur Thierry, Williams Monique, Salomons Gajja S., Mercimek-Andrews Saadet Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study European journal of paediatric neurology : EJPN 2018;22 (3):369-379 [PubMed]

2017

• Riemersma Moniek, Hazebroek Mark R., Helderman-van den Enden Appolonia T. J. M., Salomons Gajja S., Ferdinandusse Sacha, Brouwers Martijn C. G. J., van der Ploeg Liesbeth, Heymans Stephane, Glatz Jan F. C., van den Wijngaard Arthur, Krapels Ingrid P. C., Bierau Jörgen, Brunner Han G. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy European journal of human genetics 2017;25 (11):1195-1201 [PubMed]
• Karamat Fares A., Horjus Deborah L., Haan Yentl C., van der Woude Lisa, Schaap Marianne C., Oudman Inge, van Montfrans Gert A., Nieuwland Rienk, Salomons Gajja S., Clark Joseph F., Brewster Lizzy M. The acute effect of beta-guanidinopropionic acid versus creatine or placebo in healthy men (ABC-Trial): A randomized controlled first-in-human trial British journal of clinical pharmacology 2017;83 (12):2626-2635 [PubMed]

2016

• Kevelam Sietske H., Klouwer Femke C. C., Fock Johanna M., Salomons Gajja S., Bugiani Marianna, van der Knaap Marjo S. Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL Neuropediatrics 2016;47 (1):64-67 [PubMed]
• van Rappard Diane F., Bugiani Marianna, Boelens Jaap J., van der Steeg Alida F. W., Daams Freek, de Meij Tim G. J., van Doorn Martine M. A. C., van Hasselt Peter M., Gouma Dirk J., Verbeke Jonathan I. M. L., Hollak Carla E. M., van Hecke Wim, Salomons Gajja S., van der Knaap Marjo S., Wolf Nicole I. Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy Neurology 2016;87 (1):103-111 [PubMed]
• Jaeger B., Abeling N. G., Salomons G. S., Struys E. A., Simas-Mendes M., Geukers V. G., Poll-The B. T. Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation Molecular genetics and metabolism reports 2016;6:60-63 [PubMed]

2015

• Kevelam Sietske H., Bierau Jörgen, Salvarinova Ramona, Agrawal Shakti, Honzik Tomas, Visser Dennis, Weiss Marjan M., Salomons Gajja S., Abbink Truus E. M., Waisfisz Quinten, van der Knaap Marjo S. Recessive ITPA mutations cause an early infantile encephalopathy Annals of neurology 2015;78 (4):649-658 [PubMed]

2014

• Mühlhausen Chris, Salomons Gajja S., Lukacs Zoltan, Struys Eduard A., van der Knaap Marjo S., Ullrich Kurt, Santer René Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment Journal of inherited metabolic disease 2014;37 (5):775-781 [PubMed]
• Wolf Nicole I., Salomons Gajja S., Rodenburg Richard J., Pouwels Petra J. W., Schieving Jolanda H., Derks Terry G. J., Fock Johanna M., Rump Patrick, van Beek Daphne M., van der Knaap Marjo S., Waisfisz Quinten Mutations in RARS cause hypomyelination Annals of neurology 2014;76 (1):134-139 [PubMed]
• Dallabona Cristina, Diodato Daria, Kevelam Sietske H., Haack Tobias B., Wong Lee-Jun, Salomons Gajja S., Baruffini Enrico, Melchionda Laura, Mariotti Caterina, Strom Tim M., Meitinger Thomas, Prokisch Holger, Chapman Kim, Colley Alison, Rocha Helena, Ounap Katrin, Schiffmann Raphael, Salsano Ettore, Savoiardo Mario, Hamilton Eline M., Abbink Truus E. M., Wolf Nicole I., Ferrero Ileana, Lamperti Costanza, Zeviani Massimo, Vanderver Adeline, Ghezzi Daniele, van der Knaap Marjo S. Novel (ovario) leukodystrophy related to AARS2 mutations Neurology 2014;82 (23):2063-2071 [PubMed]
• Nota Benjamin, Ndika Joseph D. T., van de Kamp Jiddeke M., Kanhai Warsha A., van Dooren Silvy J. M., van de Wiel Mark A., Pals Gerard, Salomons Gajja S. RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix Human mutation 2014;35 (9):1128-1135 [PubMed]
• van de Kamp J. M. X-linked creatine transporter deficiency 2014. 193p. [UvA Dissertations Online] Vrije Universiteit: Faculteit Geneeskunde. (Supervisors: Meijers-Heijboer E. J., Salomons G. S.; Co-supervisor: Mancini G. M. S.)

2013

• Nota Benjamin, Struys Eduard A., Pop Ana, Jansen Erwin E., Fernandez Ojeda Matilde R., Kanhai Warsha A., Kranendijk Martijn, van Dooren Silvy J. M., Bevova Marianna R., Sistermans Erik A., Nieuwint Aggie W. M., Barth Magalie, Ben-Omran Tawfeg, Hoffmann Georg F., de Lonlay Pascale, McDonald Marie T., Meberg Alf, Muntau Ania C., Nuoffer Jean-Marc, Parini Rossella, Read Marie-Hélène, Renneberg Axel, Santer René, Strahleck Thomas, van Schaftingen Emile, van der Knaap Marjo S., Jakobs Cornelis, Salomons Gajja S. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria American journal of human genetics 2013;92 (4):627-631 [PubMed]
• Kevelam Sietske H., Bugiani Marianna, Salomons Gajja S., Feigenbaum Annette, Blaser Susan, Prasad Chitra, Häberle Johannes, Baric Ivo, Bakker Ingrid M. C., Postma Nienke L., Kanhai Warsha A., Wolf Nicole I., Abbink Truus E. M., Waisfisz Quinten, Heutink Peter, van der Knaap Marjo S. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy Brain 2013;136 (5):1534-1543 [PubMed]
• Ramesh Konanki, Sharma Suvasini, Kumar Atin, Salomons Gajja S., van der Knaap Marjo S., Gulati Sheffali Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy Journal of child neurology 2013;28 (3):396-398 [PubMed]
• Nota Benjamin, Hamilton Eline M., Sie Daoud, Ozturk Senay, van Dooren Silvy J. M., Ojeda Matilde R. Fernandez, Jakobs Cornelis, Christensen Ernst, Kirk Edwin P., Sykut-Cegielska Jolanta, Lund Allan M., van der Knaap Marjo S., Salomons Gajja S. Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing Journal of medical genetics 2013;50 (11):754-759 [PubMed]
• van de Kamp J. M., Betsalel O. T., Mercimek-Mahmutoglu S., Abulhoul L., Grünewald S., Anselm I., Azzouz H., Bratkovic D., de Brouwer A., Hamel B., Kleefstra T., Yntema H., Campistol J., Vilaseca M. A., Cheillan D., D'Hooghe M., Diogo L., Garcia P., Valongo C., Fonseca M., Frints S., Wilcken B., von der Haar S., Meijers-Heijboer H. E., Hofstede F., Johnson D., Kant S. G., Lion-Francois L., Pitelet G., Longo N., Maat-Kievit J. A., Monteiro J. P., Munnich A., Muntau A. C., Nassogne M. C., Osaka H., Ounap K., Pinard J. M., Quijano-Roy S., Poggenburg I., Poplawski N., Abdul-Rahman O., Ribes A., Arias A., Yaplito-Lee J., Schulze A., Schwartz C. E., Schwenger S., Soares G., Sznajer Y., Valayannopoulos V., van Esch H., Waltz S., Wamelink M. M. C., Pouwels P. J. W., Errami A., van der Knaap M. S., Jakobs C., Mancini G. M., Salomons G. S. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency Journal of medical genetics 2013;50 (7):463-472 [PubMed]

2012

• van de Kamp Jiddeke M., Pouwels Petra J. W., Aarsen Femke K., ten Hoopen Leontine W., Knol Dirk L., de Klerk Johannes B., de Coo Ireneus F., Huijmans Jan G. M., Jakobs Cornelis, van der Knaap Marjo S., Salomons Gajja S., Mancini Grazia M. S. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect Journal of inherited metabolic disease 2012;35 (1):141-149 [PubMed]
• Kranendijk Martijn, Struys Eduard A., Salomons Gajja S., van der Knaap Marjo S., Jakobs Cornelis Progress in understanding 2-hydroxyglutaric acidurias Journal of inherited metabolic disease 2012;35 (4):571-587 [PubMed]

2011

• van de Kamp J. M., Mancini G. M. S., Pouwels P. J. W., Betsalel O. T., van Dooren S. J. M., de Koning I., Steenweg M. E., Jakobs C., van der Knaap M. S., Salomons G. S. Clinical features and X-inactivation in females heterozygous for creatine transporter defect Clinical genetics 2011;79 (3):264-272 [PubMed]

2010

• Steenweg Marjan E., Jakobs Cornelis, Errami Abdellatif, van Dooren Silvy J. M., Adeva Bartolomé Maria T., Aerssens Peter, Augoustides-Savvapoulou Persephone, Baric Ivo, Baumann Matthias, Bonafé Luisa, Chabrol Brigitte, Clarke Joe T. R., Clayton Peter, Coker Mahmut, Cooper Sarah, Falik-Zaccai Tzipora, Gorman Mark, Hahn Andreas, Hasanoglu Alev, King Mary D., de Klerk Hans B. C., Korman Stanley H., Lee Céline, Meldgaard Lund Allan, Mejaski-Bosnjak Vlatka, Pascual-Castroviejo Ignacio, Raadhyaksha Aparna, Rootwelt Terje, Roubertie Agathe, Ruiz-Falco Maria L., Scalais Emmanuel, Schimmel Ulf, Seijo-Martinez Manuel, Suri Mohnish, Sykut-Cegielska Jolanta, Trefz Friedrich K., Uziel Graziella, Valayannopoulos Vassili, Vianey-Saban Christine, Vlaho Stefan, Vodopiutz Julia, Wajner Moacir, Walter John, Walter-Derbort Claudia, Yapici Zuhal, Zafeiriou Dimitrios I., Spreeuwenberg Marieke D., Celli Jacopo, den Dunnen Johan T., van der Knaap Marjo S., Salomons Gajja S. An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study Human mutation 2010;31 (4):380-390 [PubMed]
• Bouts Antonia H., Roofthooft Marcus T. R., Salomons Gajja S., Davin Jean-Claude CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency Pediatric nephrology (Berlin, Germany) 2010;25 (12):2547-2548 [PubMed]
• Kranendijk Martijn, Struys Eduard A., van Schaftingen Emile, Gibson K. Michael, Kanhai Warsha A., van der Knaap Marjo S., Amiel Jeanne, Buist Neil R., Das Anibh M., de Klerk Johannis B., Feigenbaum Annette S., Grange Dorothy K., Hofstede Floris C., Holme Elisabeth, Kirk Edwin P., Korman Stanley H., Morava Eva, Morris Andrew, Smeitink Jan, Sukhai Rám N., Vallance Hilary, Jakobs Cornelis, Salomons Gajja S. IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria Science 2010;330 (6002):336 [PubMed]

2009

• Poloni Claudia B., Ferey Solène, Haenggeli Charles-Antoine, Delavelle Jacqueline, Bottani Armand, Salomons Gajja S., van der Knaap Marjo S., Korff Christian M. Alexander disease: Early presence of cerebral MRI criteria European journal of paediatric neurology : EJPN 2009;13 (6):556-558 [PubMed]
• Kranendijk M., Salomons G. S., Gibson K. M., Aktuglu-Zeybek C., Bekri S., Christensen E., Clarke J., Hahn A., Korman S. H., Mejaski-Bosnjak V., Superti-Furga A., Vianey-Saban C., van der Knaap M. S., Jakobs C., Struys E. A. Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria Journal of inherited metabolic disease 2009;32 (6):713-719 [PubMed]
• Steenweg Marjan E., Salomons Gajja S., Yapici Zuhal, Uziel Graziella, Scalais Emmanuel, Zafeiriou Dimitrios I., Ruiz-Falco Maria L., Mejaski-Bosnjak Vlatka, Augoustides-Savvopoulou Persephone, Wajner Moacir, Walter John, Verhoeven-Duif Nanda M., Struys Eduard A., Jakobs Cornelis, van der Knaap Marjo S. L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients Radiology 2009;251 (3):856-865 [PubMed]
• van der Voorn J. Patrick, Pouwels Petra J. W., Salomons Gajja S., Barkhof Frederik, van der Knaap Marjo S. Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter Neuroradiology 2009;51 (10):669-675 [PubMed]

2008

• Betsalel Ofir T., van de Kamp Jiddeke M., Martínez-Muñoz Cristina, Rosenberg Efraim H., de Brouwer Arjan P. M., Pouwels Petra J. W., van der Knaap Marjo S., Mancini Grazia M. S., Jakobs Cornelis, Hamel Ben C. J., Salomons Gajja S. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency Neurogenetics 2008;9 (3):183-190 [PubMed]

2007

• Korman Stanley H., Jakobs Cornelis, Darmin Patricia S., Gutman Alisa, van der Knaap Marjo S., Ben-Neriah Ziva, Dweikat Imad, Wexler Isaiah D., Salomons Gajja S. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel European journal of paediatric neurology : EJPN 2007;11 (2):81-89 [PubMed]

2006

• van der Knaap M. S., Ramesh V., Schiffmann R., Blaser S., Kyllerman M., Gholkar A., Ellison D. W., van der Voorn J. P., van Dooren S. J. M., Jakobs C., Barkhof F., Salomons G. S. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord Neurology 2006;66 (4):494-498 [PubMed]
• Mercimek-Mahmutoglu S., Stoeckler-Ipsiroglu S., Adami A., Appleton R., Araújo H. Caldeira, Duran M., Ensenauer R., Fernandez-Alvarez E., Garcia P., Grolik C., Item C. B., Leuzzi V., Marquardt I., Mühl A., Saelke-Kellermann R. A., Salomons G. S., Schulze A., Surtees R., van der Knaap M. S., Vasconcelos R., Verhoeven N. M., Vilarinho L., Wilichowski E., Jakobs C. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis Neurology 2006;67 (3):480-484 [PubMed]
• Li Rong, Johnson Anne B., Salomons Gajja S., van der Knaap Marjo S., Rodriguez Diana, Boespflug-Tanguy Odile, Gorospe J. Rafael, Goldman James E., Messing Albee, Brenner Michael Propensity for paternal inheritance of de novo mutations in Alexander disease Human genetics 2006;119 (1-2):137-144 [PubMed]
• Franzoni Emilio, van der Knaap Marjo S., Errani Alessandra, Colonnelli Maria Chiara, Bracceschi Roberta, Malaspina Elisabetta, Moscano Filomena Caterina, Garone Caterina, Sarajlija Jasenka, Zimmerman Robert A., Salomons Gajja S., Bernardi Bruno Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report Journal of child neurology 2006;21 (12):1075-1080 [PubMed]

2005

• Verhoeven N. M., Wallot M., Huck J. H. J., Dirsch O., Ballauf A., Neudorf U., Salomons G. S., van der Knaap M. S., Voit T., Jakobs C. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency Journal of inherited metabolic disease 2005;28 (2):169-179 [PubMed]
• Yalcinkaya C., Benbir G., Salomons G. S., Karaarslan E., Rolland M. O., Jakobs C., van der Knaap M. S. Atypical MRI findings in Canavan disease: a patient with a mild course Neuropediatrics 2005;36 (5):336-339 [PubMed]
• Li Rong, Johnson Anne B., Salomons Gajja, Goldman James E., Naidu Sakkubai, Quinlan Roy, Cree Bruce, Ruyle Stephanie Z., Banwell Brenda, D'Hooghe Marc, Siebert Joseph R., Rolf Cristin M., Cox Helen, Reddy Alyssa, Gutiérrez-Solana Luis González, Collins Amanda, Weller Roy O., Messing Albee, van der Knaap Marjo S., Brenner Michael Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease Annals of neurology 2005;57 (3):310-326 [PubMed]
• Araujo H. C., Smit W., Verhoeven N. M., Salomons G. S., Silva S., Vasconcelos R., Tomas H., de Almeida I. T., Jakobs C., Duran M. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation American journal of medical genetics. Part A 2005;133A (2):122-127 [PubMed]
• Mancini G. M. S., Catsman-Berrevoets C. E., de Coo I. F. M., Aarsen F. K., Kamphoven J. H. J., Huijmans J. G., Duran M., van der Knaap M. S., Jakobs C., Salomons G. S. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families American journal of medical genetics. Part A 2005;132A (3):288-295 [PubMed]
• van der Knaap Marjo S., Salomons Gajja S., Li Rong, Franzoni Emilio, Gutiérrez-Solana Luiz González, Smit Leo M. E., Robinson Richard, Ferrie Collin D., Cree Bruce, Reddy Alyssa, Thomas Neil, Banwell Brenda, Barkhof Frederik, Jakobs Cornelis, Johnson Anne, Messing Albee, Brenner Michael Unusual variants of Alexander's disease Annals of neurology 2005;57 (3):327-338 [PubMed]
• van der Knaap M. S., Salomons G. S., Li R., Franzoni E., Gutierrez-Solana L. G., Smit L. M. E., Robinson R., Ferrie C. D., Cree B., Reddy A., Thomas N., Banwell B., Barkhof F., Jakobs C., Johnson A., Messing A., BRENNER M. Unusual variants of Alexander's disease (vol 57, pg 327, 2005) Annals of neurology 2005;58 (1):172

2004

• Verhoeven Nanda M., Roos Birthe, Struys Eduard A., Salomons Gajja S., van der Knaap Marjo S., Jakobs Cornelis Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency Clinical chemistry 2004;50 (2):441-443 [PubMed]
• Huck Jojanneke H. J., Verhoeven Nanda M., Struys Eduard A., Salomons Gajja S., Jakobs Cornelis, van der Knaap Marjo S. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy American journal of human genetics 2004;74 (4):745-751 [PubMed]

2002

• van Noesel Max M., van Bezouw Saskia, Salomons Gajja S., Voûte P. A., Pieters Rob, Baylin Steve B., Herman James G., Versteeg Rogier Tumor-specific down-regulation of the tumor necrosis factor-related apoptosis-inducing ligand decoy receptors DcR1 and DcR2 is associated with dense promoter hypermethylation Cancer research 2002;62 (7):2157-2161 [PubMed]

2001

• Verhoeven N. M., Huck J. H., Roos B., Struys E. A., Salomons G. S., Douwes A. C., van der Knaap M. S., Jakobs C. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway American journal of human genetics 2001;68 (5):1086-1092 [PubMed]

1998

• Salomons G. S., Buitenhuis C. K., Martínez Muñoz C., Verwijs-Jassen M., Behrendt H., Zsiros J., Smets L. A. Mutational analysis of Bax and Bcl-2 in childhood acute lymphoblastic leukaemia International journal of cancer. Journal international du cancer 1998;79 (3):273-277 [PubMed]

1997

• Salomons G. S., Brady H. J., Verwijs-Janssen M., van den Berg J. D., Hart A. A., van den Berg H., Behrendt H., Hählen K., Smets L. A. The Bax alpha:Bcl-2 ratio modulates the response to dexamethasone in leukaemic cells and is highly variable in childhood acute leukaemia International journal of cancer. Journal international du cancer 1997;71 (6):959-965 [PubMed]