Concepedia

Gjb1 Mutations

GJB1 Mutations is a genetic alteration in the GJB1 gene, which encodes the connexin-32 protein, distinguished by its association with X-linked Charcot-Marie-Tooth disease and its disruption of gap junction function in peripheral nerve myelination.

151

Publications

9K

Citations

952

Authors

353

Institutions

Publications per year

2017–2026

34

Parents

Publications

151

Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

Leopoldo Zelante · Human Molecular Genetics · 1997 · 627 citations

, , +16

Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

Philip M. Kelley, David J. Harris, B.C. Comer et al. · The American Journal of Human Genetics · 1998 · 506 citations · Full text

, , +16

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 372 citations

, , +17

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Vera Fridman, Brian N. Bundy, Mary M. Reilly et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 344 citations · Full text

, , +17

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

Elena Maestrini · Human Molecular Genetics · 1999 · 323 citations · Full text

, , +12

1–5 of 151

Authors

952

  1. KA
    Kleopas A. Kleopa

    Cyprus Institute of Neurology and Genetics, Cyprus

    14 publications · 713 citations

    14

    h-index

  2. SS
    Steven S. Scherer

    University of Pennsylvania, United States

    14 publications · 1.3K citations

    13

    h-index

  3. IS
    Irene Sargiannidou

    Cyprus Institute of Neurology and Genetics, Cyprus

    10 publications · 495 citations

    10

    h-index

  4. MM
    Mary M. Reilly

    University College London, United Kingdom

    10 publications · 1.1K citations

    9

    h-index

  5. AK
    Alexia Kagiava

    Cyprus Institute of Neurology and Genetics, Cyprus

    9 publications · 338 citations

    9

    h-index

1–5 of 952

Institutions

353

  1. Cyprus Institute of Neurology and Genetics

    Nicosia, Cyprus

    13 h-index

    56 publications

    2.9K citations

  2. University College London

    London, United Kingdom

    11 h-index

    110 publications

    10.7K citations

  3. University of Pennsylvania

    Philadelphia, United States

    10 h-index

    21 publications

    1.4K citations

  4. National Hospital for Neurology and Neurosurgery

    London, United Kingdom

    8 h-index

    98 publications

    9.2K citations

  5. University of Padua

    Padua, Italy

    7 h-index

    27 publications

    1K citations

  6. Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

    7 h-index

    59 publications

    3.8K citations

  7. University of Verona

    Verona, Italy

    6 h-index

    31 publications

    1.9K citations

  8. Charles University

    Prague, Czechia

    5 h-index

    13 publications

    165 citations

1–8 of 353

Venues

  1. Journal of the Peripheral Nervous System

    JPNS · 13 publications · 367 citations

    12

    h-index

  2. Human Molecular Genetics

    12 publications · 1.7K citations

    12

    h-index

  3. Neurology

    10 publications · 686 citations

    10

    h-index

  4. Human Mutation

    10 publications · 503 citations

    10

    h-index

  5. Journal of Neurology Neurosurgery & Psychiatry

    5 publications · 887 citations

    5

    h-index

1–5