Jonathan Baets

Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

James F. Howard, Vera Bril, Tuan Vu et al. · The Lancet Neurology · 2021 · 587 citations · Full text

Medicine, Generalised Myasthenia Gravis

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke et al. · Nature Genetics · 2013 · 302 citations

Molecular Neuroscience, Genetics, Gain-of-function Mutation +7

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Ingo Kurth, Torsten Pamminger, J. Christopher Hennings et al. · Nature Genetics · 2009 · 249 citations

Neurobiology Of Disease, Molecular Neuroscience, Cause Severe Sensory +10

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Jean‐Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre et al. · The American Journal of Human Genetics · 2011 · 203 citations · Full text

Synaptic Plasticity, Neuromuscular Junction, Molecular Neuroscience +15

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Marina Kennerson, Garth A. Nicholson, Stephen G. Kaler et al. · The American Journal of Human Genetics · 2010 · 186 citations · Full text

Missense Mutations, Genetic Disorder, Medicine +5