Concepedia

Demyelinating Hereditary Neuropathy

Demyelinating Hereditary Neuropathy is a type of inherited peripheral neuropathy characterized by primary demyelination of peripheral nerves due to genetic mutations affecting myelin structure or maintenance.

192

Publications

10.2K

Citations

1.1K

Authors

408

Institutions

Publications per year

2017–2026

28

Parents

Publications

192

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

JoAnn Bergoffen, S. S. Scherer, S. Wang et al. · Science · 1993 · 1.1K citations

, , +16

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 et al. · Neuron · 1996 · 363 citations · Full text

, , +17

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

J.P. Bouchard, A. Barbeau, Rémi W. Bouchard et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 1978 · 288 citations · Full text

, , +16

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

A. Guilbot · Human Molecular Genetics · 2001 · 211 citations · Full text

, , +17

Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.

Elsa Fabbretti, Paolo Edomi, Claudio Brancolini et al. · Genes & Development · 1995 · 180 citations · Full text

, , +17

1–5 of 192

Authors

1.1K

  1. JR
    James R. Lupski

    Baylor College of Medicine, United States

    6 publications · 730 citations

    6

    h-index

  2. TM
    Thierry Maisonobe

    Sorbonne Université, France

    6 publications · 203 citations

    6

    h-index

  3. AB
    Alexis Brice

    Inserm, France

    5 publications · 321 citations

    5

    h-index

  4. ME
    Michael E. Shy

    Wayne State University, United States

    5 publications · 400 citations

    5

    h-index

  5. ÉL
    Éric Leguern

    Inserm, France

    5 publications · 434 citations

    5

    h-index

1–5 of 1.1K

Institutions

408

  1. Inserm

    Paris, France

    12 h-index

    55 publications

    3.1K citations

  2. Baylor College of Medicine

    Houston, United States

    6 h-index

    15 publications

    2.3K citations

  3. University of Antwerp

    Antwerp, Belgium

    6 h-index

    12 publications

    1.3K citations

  4. Sorbonne Université

    Paris, France

    5 h-index

    18 publications

    1.2K citations

  5. University College London

    London, United Kingdom

    5 h-index

    12 publications

    458 citations

  6. University of Pennsylvania

    Philadelphia, United States

    5 h-index

    21 publications

    9.3K citations

  7. Radboud University Nijmegen

    Nijmegen, The Netherlands

    5 h-index

    16 publications

    1.4K citations

  8. Pitié-Salpêtrière Hospital

    Paris, France

    5 h-index

    18 publications

    1.2K citations

1–8 of 408

Venues

  1. Neurology

    24 publications · 1.4K citations

    19

    h-index

  2. Brain

    12 publications · 1K citations

    12

    h-index

  3. Muscle & Nerve

    12 publications · 522 citations

    11

    h-index

  4. Journal of the Peripheral Nervous System

    JPNS · 10 publications · 206 citations

    10

    h-index

  5. Annals of Neurology

    8 publications · 665 citations

    8

    h-index

1–5