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| Stimulation of fibroblast growth factor receptor-1 occupancy and signaling by cell surface-associated syndecans and glypican. R Steinfeld, H Van Den Berghe, G David The Journal of cell biology 133 (2), 405-416, 1996 | 327 | 1996 |
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| Cathepsin D deficiency is associated with a human neurodegenerative disorder R Steinfeld, K Reinhardt, K Schreiber, M Hillebrand, R Kraetzner, W Brück, ... The American Journal of Human Genetics 78 (6), 988-998, 2006 | 318 | 2006 |
| Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism R Steinfeld, M Grapp, R Kraetzner, S Dreha-Kulaczewski, G Helms, ... The American Journal of Human Genetics 85 (3), 354-363, 2009 | 270 | 2009 |
| Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency A Schmidt, B Marescau, EA Boehm, WKJ Renema, R Peco, A Das, ... Human molecular genetics 13 (9), 905-921, 2004 | 182 | 2004 |
| Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations R Steinfeld, P Heim, H von Gregory, K Meyer, K Ullrich, HH Goebel, ... American journal of medical genetics 112 (4), 347-354, 2002 | 178 | 2002 |
| Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ... Orphanet journal of rare diseases 8, 1-9, 2013 | 174 | 2013 |
| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 156 | 2020 |
| RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection M Henneke, S Diekmann, A Ohlenbusch, J Kaiser, V Engelbrecht, ... Nature genetics 41 (7), 773-775, 2009 | 149 | 2009 |
| Characterization of Glypican-5 and Chromosomal Localization of HumanGPC5, a New Member of the Glypican Gene Family M Veugelers, J Vermeesch, G Reekmans, R Steinfeld, P Marynen, ... Genomics 40 (1), 24-30, 1997 | 135 | 1997 |
| Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency M Grapp, IA Just, T Linnankivi, P Wolf, T Lücke, M Häusler, J Gärtner, ... Brain 135 (7), 2022-2031, 2012 | 129 | 2012 |
| Mode of interaction of G-quartets with the integrase of human immunodeficiency virus type 1 P Cherepanov, JA Esté, RF Rando, JO Ojwang, G Reekmans, R Steinfeld, ... Molecular Pharmacology 52 (5), 771-780, 1997 | 120 | 1997 |
| Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency S Banka, HJ Blom, J Walter, M Aziz, J Urquhart, CM Clouthier, GI Rice, ... The American Journal of Human Genetics 88 (2), 216-225, 2011 | 113 | 2011 |
| Glutaric aciduria type I: pathomechanisms of neurodegeneration K Ullrich, B Flott-Rahmel, P Schluff, U Musshoff, A Das, T Lücke, ... Journal of inherited metabolic disease 22, 392-403, 1999 | 113 | 1999 |
| The expanding clinical and genetic spectrum of ATP1A3-related disorders H Rosewich, A Ohlenbusch, P Huppke, L Schlotawa, M Baethmann, ... Neurology 82 (11), 945-955, 2014 | 107 | 2014 |
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| Newborn screening: a disease‐changing intervention for glutaric aciduria type 1 N Boy, K Mengler, E Thimm, KA Schiergens, T Marquardt, N Weinhold, ... Annals of neurology 83 (5), 970-979, 2018 | 93 | 2018 |
| Neurometabolic disorders: potentially treatable abnormalities in patients with treatment-refractory depression and suicidal behavior LA Pan, P Martin, T Zimmer, AM Segreti, S Kassiff, BW McKain, CA Baca, ... American journal of psychiatry 174 (1), 42-50, 2017 | 82 | 2017 |
| Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course S Groeschel, C Kehrer, C Engel, C í Dali, A Bley, R Steinfeld, W Grodd, ... Journal of inherited metabolic disease 34, 1095-1102, 2011 | 82 | 2011 |
