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

Sur la technique des biopsies musculaires (II). Analyse de l’innervation motrice terminale et des plaques motrices en pathologie humaine

Autor: Michel Fardeau, Stéphanie Bauché, Daniel Hantaï

Publikováno v: Les Cahiers de Myologie. :7-10

L’analyse de l’innervation motrice terminale (IMT) a marque un premier virage majeur dans l’analyse des biopsies musculaires, jusque la examinees sur coupes en paraffine et colorations histologiques classiques. Ce fut des 1952, essentiellement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c048938d7c9cd75ae08ab5c04b61bc8a
https://doi.org/10.1051/myolog/201613002

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy

Autor: Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, Brochier, Guy, Lacène, Emmanuelle, Koenig, Jeanine, Fournier, Emmanuelle, Daniel, Hantaï, Eymard, Bruno, Chevessier, Frederic, Stojkovic, Tanya, Nicole, Sophie

Publikováno v: journées de la société française de myologie
journées de la société française de myologie, Nov 2017, Colmar, France

International audience; Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d3917cad045e9ae919f6299557d910c3
https://hal.science/hal-03994005

Syndromes myasthéniques congénitaux : difficultés diagnostiques, évolution et pronostic, thérapeutique L’expérience du réseau national « Syndromes Myasthéniques Congénitaux »

Autor: Michel Fardeau, Anthony Behin, Norma B. Romero, Daniel Hantaï, P. Laforêt, Bruno Eymard, Sophie Nicole, Laurent Servais, Emmanuel Fournier, Damien Sternberg, P. Richard, T. Stojkovic

Publikováno v: Revue Neurologique. 169:S45-S55

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. Three different aspects have been investigated by memb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a11d5c52b97eab2980ffcee105ea8e00
https://doi.org/10.1016/s0035-3787(13)70060-2

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