| Mutations in antiquitin in individuals with pyridoxine-dependent seizures PB Mills, E Struys, C Jakobs, B Plecko, P Baxter, M Baumgartner, ... Nature medicine 12 (3), 307-309, 2006 | 576 | 2006 |
| Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome P Vreken, F Valianpour, LG Nijtmans, LA Grivell, B Plecko, RJA Wanders, ... Biochemical and biophysical research communications 279 (2), 378-382, 2000 | 453 | 2000 |
| Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up S Stockler, B Plecko, SM Gospe Jr, M Coulter-Mackie, M Connolly, ... Molecular genetics and metabolism 104 (1-2), 48-60, 2011 | 341 | 2011 |
| Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy M Schuelke, J Smeitink, E Mariman, J Loeffen, B Plecko, F Trijbels, ... Nature genetics 21 (3), 260-261, 1999 | 323 | 1999 |
| De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy L Claes, B Ceulemans, D Audenaert, K Smets, A Löfgren, J Del‐Favero, ... Human mutation 21 (6), 615-621, 2003 | 260 | 2003 |
| Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant … P Harmatz, R Giugliani, IVD Schwartz, N Guffon, EL Teles, MCS Miranda, ... Molecular genetics and metabolism 94 (4), 469-475, 2008 | 244 | 2008 |
| Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009 | 234 | 2009 |
| Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing TB Haack, B Haberberger, EM Frisch, T Wieland, A Iuso, M Gorza, ... Journal of medical genetics 49 (4), 277-283, 2012 | 220 | 2012 |
| Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy RC Gallagher, JLK Van Hove, G Scharer, K Hyland, B Plecko, PJ Waters, ... Annals of Neurology: Official Journal of the American Neurological …, 2009 | 206 | 2009 |
| CCC-and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL P Bartuzi, DD Billadeau, R Favier, S Rong, D Dekker, A Fedoseienko, ... Nature communications 7 (1), 1-11, 2016 | 198 | 2016 |
| Disorders affecting vitamin B6 metabolism MP Wilson, B Plecko, PB Mills, PT Clayton Journal of inherited metabolic disease 42 (4), 629-646, 2019 | 195 | 2019 |
| Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome PB Mills, SSM Camuzeaux, EJ Footitt, KA Mills, P Gissen, L Fisher, ... Brain 137 (5), 1350-1360, 2014 | 195 | 2014 |
| Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009 | 182 | 2009 |
| Biochemical and molecular characterization of 18 patients with pyridoxine‐dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene B Plecko, K Paul, E Paschke, S Stoeckler‐Ipsiroglu, E Struys, C Jakobs, ... Human mutation 28 (1), 19-26, 2007 | 178 | 2007 |
| 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 | 165 | 2020 |
| Severe congenital heart defects are associated with global reduction of neonatal brain volumes M von Rhein, A Buchmann, C Hagmann, H Dave, V Bernet, I Scheer, ... The Journal of pediatrics 167 (6), 1259-1263. e1, 2015 | 129 | 2015 |
| Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia S Kure, K Kato, A Dinopoulos, C Gail, TJ DeGrauw, J Christodoulou, ... Human mutation 27 (4), 343-352, 2006 | 122 | 2006 |
| Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human N‐acetylgalactosamine 4‐sulfatase P Harmatz, ZF Yu, R Giugliani, IVD Schwartz, N Guffon, EL Teles, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 119 | 2010 |
| Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome AL Schulz, B Albrecht, C Arici, I Van Der Burgt, A Buske, ... Clinical genetics 73 (1), 62-70, 2008 | 119 | 2008 |
| Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy B Plecko, C Hikel, GC Korenke, B Schmitt, M Baumgartner, F Baumeister, ... Neuropediatrics 36 (03), 200-205, 2005 | 118 | 2005 |
