X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

Autor: Inès Barthélémy, Nadège Calmels, Robert B. Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzón, Luis Garcia, Jean-Claude Kaplan, Kevin M. Flanigan, France Leturcq, Stéphane Blot

Publikováno v: Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)

Abstract Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but th

Externí odkaz: https://doaj.org/article/4db5e8aca9c9431692a8b17b3323ddbf

[The Frozen Man and the Chinese Alphabet]

Autor: J Andoni, Urtizberea, Jean-Claude, Kaplan

Publikováno v: Medecine sciences : M/S.

The Confucian philosophy teaches us that the search for truth does not always follow a straight line. The clinical observation presented here illustrates this perfectly and is about a child afflicted by a rare neuromuscular disorder (in Chinese, the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::933f1d910c6d27923d64e8a7f52ebc35
https://pubmed.ncbi.nlm.nih.gov/33427635

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

Autor: Jean-Laurent Thibaud, Christophe Béroud, Adeline Vulin, Kevin M. Flanigan, Nicolas Wein, Nathalie Deburgrave, Stéphane Blot, Jean-Claude Kaplan, Isabel Punzón, Laurent Tiret, Cécile Peccate, Robert B. Weiss, Catherine Escriou, Inès Barthélémy, Nadège Calmels, Luis Garcia, Carole Drougard

Publikováno v: Skeletal Muscle
Skeletal Muscle, 2020, 10 (1), pp.23. ⟨10.1186/s13395-020-00239-0⟩
Skeletal Muscle, BioMed Central, 2020, 10 (1), pp.23. ⟨10.1186/s13395-020-00239-0⟩
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)

Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but the Golden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3688323d713b671b97e2b41447f24486
https://hal.sorbonne-universite.fr/hal-02934725/document

The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Autor: François Rivier, Jean-Claude Kaplan, Dalil Hamroun, Gisèle Bonne

Publikováno v: Neuromuscular Disorders. 26:895-929

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a05a69bb83ac8bd53368078c6506eb54
https://doi.org/10.1016/j.nmd.2016.11.010

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Autor: Dalil Hamroun, Jean-Claude Kaplan

Publikováno v: Neuromuscular Disorders. 25:991-1020

This table is published annually in the December issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic muscle diseases due to a primary defect residing in the nuclear genome. It comprises diseases in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7e381248c494234d97bf53114c899c
https://doi.org/10.1016/j.nmd.2015.10.010