Eva Nelis

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina V Mersiyanova, +19 authors Jeffery M. Vance
Nature Genetics
2004

We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in… (More)

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Kristien Verhoeven, Kristl G. Claeys, +36 authors Vincent Timmerman
Brain : a journal of neurology
2006

Mutations in mitofusin 2 (MFN2) have been reported in Charcot-Marie-Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients with… (More)

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

Peter Raeymaekers, Vincent Timmerman, +7 authors Pieter A. Bolhuis
Neuromuscular Disorders
1991

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system characterized by progressive… (More)

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Laura E. Warner, Max J Hilz, +11 authors James R Lupski
Neuron
1996

Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP),… (More)

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

Eva Nelis, Sevim Erdem, +14 authors Vincent Timmerman
Neurology
2002

BACKGROUND Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot-Marie-Tooth… (More)

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

Vincent Timmerman, Eva Nelis, +15 authors Christine Van Broeckhoven
Nature Genetics
1992

Charcot–Marie–Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect in the… (More)

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Jan Senderek, Carsten Bergmann, +28 authors Klaus Zerres
American journal of human genetics
2003

Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell… (More)

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

Peter de Jonghe, Vincent Timmerman, +8 authors Christine van Broeckhoven
Brain : a journal of neurology
1999

We observed a missense mutation in the peripheral myelin protein zero gene (MPZ, Thr124Met) in seven Charcot-Marie-Tooth (CMT) families and in two isolated CMT patients of Belgian ancestry.… (More)

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.

Vincent Timmerman, Peter de Jonghe, +7 authors Christine van Broeckhoven
Neurology
1999

BACKGROUND Mutations in the early growth response 2 (EGR2) gene have recently been found in patients with congenital hypomyelinating neuropathy and Charcot-Marie-Tooth type 1 (CMT1) disease. … (More)

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.

Anneke A. W. M. Gabreëls-Festen, Jessica E. Hoogendijk, +10 authors Edwin C. M. Mariman
Neurology
1996

In seven unrelated patients with a demyelinating motor and sensory neuropathy, we found mutations in exons 2 and 3 of the P0 gene. Morphologic examination of sural nerve biopsy specimens showed a… (More)

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