Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial JF Howard, V Bril, T Vu, C Karam, S Peric, T Margania, H Murai, ... The Lancet Neurology 20 (7), 526-536, 2021 | 436 | 2021 |
A de novo gain-of-function mutation in SCN11A causes loss of pain perception E Leipold, L Liebmann, GC Korenke, T Heinrich, S Gießelmann, J Baets, ... Nature genetics 45 (11), 1399-1404, 2013 | 350 | 2013 |
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy I Kurth, T Pamminger, JC Hennings, D Soehendra, AK Huebner, ... Nature genetics 41 (11), 1179-1181, 2009 | 271 | 2009 |
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 C Beetz, R Schüle, T Deconinck, KN Tran-Viet, H Zhu, BPH Kremer, ... Brain 131 (4), 1078-1086, 2008 | 217 | 2008 |
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2 JB Rivière, S Ramalingam, V Lavastre, M Shekarabi, S Holbert, ... The American Journal of Human Genetics 89 (2), 219-230, 2011 | 214 | 2011 |
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I A Rotthier, M Auer-Grumbach, K Janssens, J Baets, A Penno, ... The American Journal of Human Genetics 87 (4), 513-522, 2010 | 211 | 2010 |
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation A Rotthier, J Baets, ED Vriendt, A Jacobs, M Auer-Grumbach, N Levy, ... Brain 132 (10), 2699-2711, 2009 | 211 | 2009 |
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy ML Kennerson, GA Nicholson, SG Kaler, B Kowalski, JFB Mercer, J Tang, ... The American Journal of Human Genetics 86 (3), 343-352, 2010 | 208 | 2010 |
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort I Gijselinck, S Van Mossevelde, J Van Der Zee, A Sieben, S Philtjens, ... Neurology 85 (24), 2116-2125, 2015 | 203 | 2015 |
Mechanisms of disease in hereditary sensory and autonomic neuropathies A Rotthier, J Baets, V Timmerman, K Janssens Nature Reviews Neurology 8 (2), 73-85, 2012 | 203 | 2012 |
Transcriptional regulator PRDM12 is essential for human pain perception YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ... Nature genetics 47 (7), 803-808, 2015 | 195 | 2015 |
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype–phenotype correlation study I Dierick, J Baets, J Irobi, A Jacobs, E De Vriendt, T Deconinck, L Merlini, ... Brain 131 (5), 1217-1227, 2008 | 160 | 2008 |
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I C Guelly, PP Zhu, L Leonardis, L Papić, J Zidar, M Schabhüttl, ... The American Journal of Human Genetics 88 (1), 99-105, 2011 | 159 | 2011 |
Mutations in SACS cause atypical and late-onset forms of ARSACS J Baets, T Deconinck, K Smets, D Goossens, P Van den Bergh, K Dahan, ... Neurology 75 (13), 1181-1188, 2010 | 159 | 2010 |
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ... Nature genetics 44 (10), 1080-1083, 2012 | 157 | 2012 |
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ... Brain 133 (6), 1798-1809, 2010 | 155 | 2010 |
Genetic spectrum of hereditary neuropathies with onset in the first year of life J Baets, T Deconinck, E De Vriendt, M Zimoń, L Yperzeele, ... Brain 134 (9), 2664-2676, 2011 | 148 | 2011 |
The SCN1A variant database: a novel research and diagnostic tool LRF Claes, L Deprez, A Suls, J Baets, K Smets, T Van Dyck, T Deconinck, ... Human mutation 30 (10), E904-E920, 2009 | 145 | 2009 |
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2 E Cottenie, A Kochanski, A Jordanova, B Bansagi, M Zimon, A Horga, ... The American Journal of Human Genetics 95 (5), 590-601, 2014 | 140 | 2014 |
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial MG Hanna, UA Badrising, O Benveniste, TE Lloyd, M Needham, H Chinoy, ... The Lancet Neurology 18 (9), 834-844, 2019 | 136 | 2019 |