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

Stephan Züchner, Irina Mersiyanova, M. Muglia, +18

Nature Genetics

Neurodegenerative DiseasesMolecular NeuroscienceMitochondrial FunctionMitochondrial DynamicGenetics +7

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

Peter Raeymaekers, Vincent Timmerman, Eva Nelis, +8

Neuromuscular Disorders

Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsNeurology +4

Estimation of the Mutation Frequenciesin Charcot-Marie-Tooth Disease Type 1and Hereditary Neuropathy withLiability to Pressure Palsies:A European Collaborative Study

Eva Nelis, Christine Van Broeckhoven

European Journal of Human Genetics

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

Vincent Timmerman, Eva Nelis, Wim Van Hul, +15

Nature Genetics

Neurodegenerative DiseasesPeripheral NervesGenetic DisorderGeneticsPathology +6

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, Stanley H. Appel, +11

Neuron

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Gregor Kuhlenbäumer, Mark Hannibal, Eva Nelis, +24

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisMolecular NeuroscienceGenetic DisorderGenetics +6

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, C. Ceuterick, +8

Brain

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Jan Senderek, Carsten Bergmann, Claudia Stendel, +28

The American Journal of Human Genetics

Neurodegenerative DiseasesMolecular NeuroscienceMendelian DisorderGenetic DisorderGenetics +7

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E

Peter De Jonghe, Irina Mersivanova, Eva Nelis, +5

Annals of Neurology

Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients

Lawrence T. Reiter, Philip J. Hastings, Eva Nelis, +3

The American Journal of Human Genetics

ChromatinGenome InstabilityNatural SciencesGeneticsMeiosis +8