Marianne de Visser

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

Peter Raeymaekers, Vincent Timmerman, Eva Nelis et al. · Neuromuscular Disorders · 1991 · 599 citations

Medicine, Genetics, Molecular Genetics +12

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

Linda J. Valentijn, Frank Baas, Ruud A. Wolterman et al. · Nature Genetics · 1992 · 423 citations

Life Sciences, Genetics, Molecular Genetics +11

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Stephan Züchner, Peter De Jonghe, Albena Jordanova et al. · Annals of Neurology · 2006 · 360 citations

Life Sciences, Genetics, Neurology +17

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

Tanja Kulkens, Pieter A. Bolhuis, Ruud A. Wolterman et al. · Nature Genetics · 1993 · 184 citations

Life Sciences, Genetics, Molecular Genetics +12

De-novo mutation in hereditary motor and sensory neuropathy type I

Jessica E. Hoogendijk, Gerard W. Hensels, Emiel A. M. Janssen et al. · The Lancet · 1992 · 162 citations

Life Sciences, Genetics, Neurology +16