Concepedia

Pmp22 Deletion

PMP22 Deletion is a genetic mutation characterized by the absence of the peripheral myelin protein 22 gene, a subtype of copy number variation that disrupts myelin formation in peripheral nerves and is primarily associated with the development of hereditary neuropathies, most notably Charcot-Marie-Tooth disease type 1A.

381

Publications

20.6K

Citations

1.9K

Authors

627

Institutions

Publications per year

2017–2026

64

Variants

17P12 Deletion

Parents

Publications

381

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

, , +11

A deletion in chromosome 22 can cause digeorge syndrome

Albert de la Chapelle, Riitta Herva, Maila Koivisto et al. · Human Genetics · 1981 · 381 citations

, , +13

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

Katrin Adlkofer, Rudolf Martini, Adriano Aguzzi et al. · Nature Genetics · 1995 · 373 citations

, , +12

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

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

Benjamin B. Roa, Carlos A. Garcia, Ueli Suter et al. · New England Journal of Medicine · 1993 · 333 citations · Full text

, , +17

1–5 of 381

Authors

1.9K

  1. US
    Ueli Suter

    ETH Zurich, Switzerland

    27 publications · 3.1K citations

    26

    h-index

  2. ME
    Michael E. Shy

    Wayne State University, United States

    16 publications · 1.3K citations

    16

    h-index

  3. LN
    Lucia Notterpek

    University of Florida, United States

    16 publications · 1.2K citations

    15

    h-index

  4. VT
    Vincent Timmerman

    University of Antwerp, Belgium

    15 publications · 743 citations

    14

    h-index

  5. FB
    Frank Baas

    Amsterdam UMC Location University of Amsterdam, Netherlands

    12 publications · 1.4K citations

    12

    h-index

1–5 of 1.9K

Institutions

627

  1. École Polytechnique Fédérale de Lausanne

    Lausanne, Switzerland

    19 h-index

    43 publications

    4.7K citations

  2. Baylor College of Medicine

    Houston, United States

    17 h-index

    76 publications

    7.6K citations

  3. Stanford University

    Stanford, United States

    14 h-index

    41 publications

    6.9K citations

  4. University of Antwerp

    Antwerp, Belgium

    14 h-index

    57 publications

    2.6K citations

  5. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    13 h-index

    50 publications

    8.4K citations

  6. Wayne State University

    Detroit, United States

    13 h-index

    46 publications

    4.3K citations

  7. Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Italy

    11 h-index

    57 publications

    3.4K citations

  8. Sungkyunkwan University

    Seoul, South Korea

    11 h-index

    31 publications

    1.1K citations

1–8 of 627

Venues

  1. Neurology

    29 publications · 1.7K citations

    25

    h-index

  2. Muscle & Nerve

    17 publications · 591 citations

    14

    h-index

  3. Annals of Neurology

    13 publications · 818 citations

    13

    h-index

  4. Human Mutation

    14 publications · 736 citations

    13

    h-index

  5. Journal of Neuroscience Research

    JNR · 14 publications · 605 citations

    12

    h-index

1–5