A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Autor: Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard, Evelyne Goillot, Ruth Herbst, Karen Gaudon, Caroline Huzé, Laurent Schaeffer, Yuji Yamanashi, Osamu Higuchi, Antoine Taly, Jeanine Koenig, Jean-Paul Leroy, Fayçal Hentati, Hossein Najmabadi, Kimia Kahrizi, Manouchehr Ilkhani, Michel Fardeau, Bruno Eymard, Daniel Hantaï

Publikováno v: PLoS ONE, Vol 8, Iss 1, p e53826 (2013)

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular juncti

Externí odkaz: https://doaj.org/article/e68477a48eb441748de3168741d93310

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Autor: Michel Fardeau, Laurent Schaeffer, Thierry Kuntzer, Isabelle Grosjean, Daniel Hantaï, A. Rouche, Annie Chaboud, Asma Ben Ammar, Nektaria Alexandri, Frédéric Chevessier, Caroline Huzé, Emmanuel Fournier, Andrea Brancaccio, K. Gaudon, Bruno Eymard, Jeanine Koenig, S. Bauche, Evelyne Goillot, Véronique Bernard, Heba-Aude Lecuyer, Pascale Richard, Markus A. Rüegg

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-67. 〈10.1016/j.ajhg.2009.06.015〉
American Journal of Human Genetics, vol. 85, no. 2, pp. 155-167
American Journal of Human Genetics, 2009, 85 (2), pp.155-67. ⟨10.1016/j.ajhg.2009.06.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-67. ⟨10.1016/j.ajhg.2009.06.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2009, 85 (2), pp.155-167. ⟨10.1016/j.ajhg.2009.06.015⟩
The American Journal of Human Genetics

International audience; We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding agrin, an extracellular matrix molecule released by the nerve and critical for formation of the neuromuscular junction. Gene a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310ffa6794cb81a011a830a4c22a3e01
https://doi.org/10.1016/j.ajhg.2009.06.015

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Autor: Jeanine Koenig, Osamu Higuchi, Antoine Taly, Laurent Schaeffer, K. Gaudon, Asma Ben Ammar, Yuji Yamanashi, Pascale Richard, Kimia Kahrizi, Jean-Paul Leroy, Hossein Najmabadi, Daniel Hantaï, Evelyne Goillot, Fayçal Hentati, Bruno Eymard, Ruth Herbst, Caroline Huzé, Michel Fardeau, Payam Soltanzadeh, S. Bauche, Manouchehr Ilkhani

Publikováno v: PLoS ONE
PLoS ONE, Public Library of Science, 2013, 8 (1), pp.e53826. ⟨10.1371/journal.pone.0053826⟩
PLoS ONE, Vol 8, Iss 1, p e53826 (2013)
PLoS ONE, Public Library of Science, 2013, 8, pp.e53826
PLoS ONE, 2013, 8 (1), pp.e53826. ⟨10.1371/journal.pone.0053826⟩
Plos One 1 (8), . (2013)

International audience; Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55db22c69c7ab4b074e1540787398f67
https://hal.sorbonne-universite.fr/hal-01537840/file/journal.pone.0053826.PDF