Eric Schmedding

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Kristien Verhoeven, Peter De Jonghe, Katrien Coen et al. · The American Journal of Human Genetics · 2003 · 453 citations · Full text

Medicine, Neurology, Neuroscience +10

Mutations in <i>SACS</i> cause atypical and late-onset forms of ARSACS

Jonathan Baets, Tine Deconinck, Kaat Smets et al. · Neurology · 2010 · 133 citations

Life Sciences, Genetics, Neurology +17

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy

Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones et al. · Human Mutation · 2014 · 98 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker

Peggy Shelbourne, June Davies, Jessica L. Buxton et al. · New England Journal of Medicine · 1993 · 77 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Bromocriptine Therapy in Multiple Sclerosis

Véronique Bissay, Nina De Klippel, Luc Herroelen et al. · Clinical Neuropharmacology · 1994 · 45 citations

Life Sciences, Neurology, Pharmacotherapy +16