Concepedia

Rapsyn Deficiency

Rapsyn Deficiency is a congenital myasthenic syndrome characterized by impaired clustering of acetylcholine receptors at the neuromuscular junction due to mutations in the RAPSN gene, leading to compromised synaptic transmission and muscle weakness.

48

Publications

2.9K

Citations

216

Authors

100

Institutions

Publications per year

2017–2026

3

Variants

Rapsn-related Congenital Myasthenic Syndrome

Parents

Publications

48

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice

Medha Gautam, Peter G. Noakes, Jacqueline L. Mudd et al. · Nature · 1995 · 541 citations

, , +16

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

Kinji Ohno, Andrew G. Engel, Xin‐Ming Shen et al. · The American Journal of Human Genetics · 2002 · 238 citations · Full text

, , +16

Rapsyn mutations in hereditary myasthenia

Georgina Burke, Judith Cossins, Susan Maxwell et al. · Neurology · 2003 · 144 citations

, , +15

Interactions of the Rapsyn RING-H2 Domain with Dystroglycan

Marc Bartoli, Manjunath Ramarao, Jonathan B. Cohen · Journal of Biological Chemistry · 2001 · 104 citations · Full text

, , +16

Roles of Rapsyn and Agrin in Interaction of Postsynaptic Proteins with Acetylcholine Receptors

Christian Fuhrer, Medha Gautam, Janice E. Sugiyama et al. · Journal of Neuroscience · 1999 · 94 citations · Full text

, , +16

1–5 of 48

Authors

216

  1. MG
    Medha Gautam

    Washington University in St. Louis, United States

    4 publications · 773 citations

    4

    h-index

  2. AV
    Angela Vincent

    John Radcliffe Hospital, United Kingdom

    4 publications · 332 citations

    4

    h-index

  3. KO
    Kinji Ohno

    Nagoya University, Japan

    4 publications · 435 citations

    4

    h-index

  4. PR
    Pascale Richard

    Inserm, France

    4 publications · 105 citations

    4

    h-index

  5. PM
    Pilar Martínez‐Martínez

    Maastricht University, Netherlands

    3 publications · 143 citations

    3

    h-index

1–5 of 216

Institutions

100

  1. Washington University in St. Louis

    St Louis, United States

    5 h-index

    11 publications

    1.1K citations

  2. Institut de Myologie

    Paris, France

    5 h-index

    25 publications

    936 citations

  3. Inserm

    Paris, France

    4 h-index

    26 publications

    813 citations

  4. John Radcliffe Hospital

    Oxford, United Kingdom

    4 h-index

    11 publications

    616 citations

  5. Sorbonne Université

    Paris, France

    4 h-index

    19 publications

    456 citations

  6. University of California, Davis

    Davis, United States

    3 h-index

    10 publications

    354 citations

  7. Mayo Clinic in Florida

    Jacksonville, United States

    3 h-index

    4 publications

    376 citations

  8. Maastricht University

    Maastricht, The Netherlands

    3 h-index

    8 publications

    358 citations

1–8 of 100

Venues

  1. Journal of Neuroscience

    7 publications · 299 citations

    7

    h-index

  2. Brain

    4 publications · 215 citations

    4

    h-index

  3. Journal of Medical Genetics

    JMG · 4 publications · 166 citations

    4

    h-index

  4. Neurology

    3 publications · 313 citations

    3

    h-index

  5. Neuromuscular Disorders

    3 publications · 119 citations

    3

    h-index

1–5