Concepedia

Dok-7 Deficiency

Dok-7 Deficiency is a genetic neuromuscular disorder characterized by impaired synaptic development and maintenance at the neuromuscular junction due to mutations in the DOK7 gene, resulting in congenital myasthenic syndromes with limb-girdle weakness and abnormal motor endplate structure.

40

Publications

2.8K

Citations

261

Authors

110

Institutions

Publications per year

2017–2026

8

Variants

Dok7 Deficiency

Parents

Publications

40

The Muscle Protein Dok-7 Is Essential for Neuromuscular Synaptogenesis

Kumiko Okada, Akane Inoue, Momoko Okada et al. · Science · 2006 · 430 citations

, , +17

Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

David Beeson, Osamu Higuchi, Jackie Palace et al. · Science · 2006 · 269 citations

, , +17

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

Juliane S. Müller, A. Herczegfalvi, Juan J. Vílchez et al. · Brain · 2007 · 160 citations

, , +15

Clinical features of the DOK7 neuromuscular junction synaptopathy

Jacqueline Palace, Daniel Lashley, John Newsom–Davis et al. · Brain · 2007 · 128 citations · Full text

, , +16

Dok‐7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

Duygu Selcen, Margherita Milone, Xin‐Ming Shen et al. · Annals of Neurology · 2008 · 124 citations · Full text

, , +17

1–5 of 40

Authors

261

  1. HL
    Hanns Lochmüller

    Newcastle University, United Kingdom

    10 publications · 761 citations

    10

    h-index

  2. YY
    Yuji Yamanashi

    The University of Tokyo, Japan

    8 publications · 980 citations

    8

    h-index

  3. DB
    David Beeson

    University of Oxford, United Kingdom

    7 publications · 521 citations

    7

    h-index

  4. JP
    Jacqueline Palace

    John Radcliffe Hospital, United Kingdom

    6 publications · 374 citations

    6

    h-index

  5. SM
    Susan Maxwell

    University of Oxford, United Kingdom

    5 publications · 534 citations

    5

    h-index

1–5 of 261

Institutions

110

  1. Newcastle University

    Newcastle upon Tyne, United Kingdom

    9 h-index

    33 publications

    4.8K citations

  2. John Radcliffe Hospital

    Oxford, United Kingdom

    8 h-index

    33 publications

    5.1K citations

  3. University of Oxford

    Oxford, United Kingdom

    8 h-index

    44 publications

    5.9K citations

  4. University College London

    London, United Kingdom

    5 h-index

    21 publications

    1.3K citations

  5. Ludwig-Maximilians-Universität München

    Munich, Germany

    5 h-index

    12 publications

    1.1K citations

  6. MRC Weatherall Institute of Molecular Medicine

    Oxford, United Kingdom

    4 h-index

    20 publications

    1.6K citations

  7. The University of Tokyo

    Tokyo, Japan

    4 h-index

    12 publications

    230 citations

  8. Tokyo Medical and Dental University

    Tokyo, Japan

    4 h-index

    43 publications

    11.6K citations

1–8 of 110

Venues

  1. Neuromuscular Disorders

    4 publications · 163 citations

    4

    h-index

  2. Muscle & Nerve

    3 publications · 184 citations

    3

    h-index

  3. Human Molecular Genetics

    2 publications · 126 citations

    2

    h-index

  4. American Journal Of Pathology

    AJP · 2 publications · 81 citations

    2

    h-index

  5. Science

    2 publications · 699 citations

    2

    h-index

1–5