Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Xavier Ferrer-Monasterio"'
Autor:
Patrick Vermersch, Raul Juntas Morales, Arnaud Lacour, Xavier Ferrer Monasterio, Thierry Cardon, Guilhem Solé, Nicolas Taisne, Sabrina Sacconi, Fanny Duval, Claude Desnuelle, René Marc Flipo
Publikováno v:
Muscle & Nerve. 56:167-170
Introduction: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. Methods: Having diagnosed a case of L
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3aef9419843d7013faa68b5f70b561e4
https://doi.org/10.1002/mus.25478
https://doi.org/10.1002/mus.25478
Autor:
Reda Zenagui, Cyril Goizet, Corine Theze, Marie-Christine Arne-Bes, Kevin Yauy, Claude Cances, Raul Juntas Morales, Dimitri Renard, Xavier Ferrer-Monasterio, Valérie Rigau, Michel Koenig, Pascal Cintas, Mireille Claustres, Eric Bieth, François Rivier, Guilhem Solé, Caroline Espil, Henri Pegeot, Mireille Cossée, Delphine Lacourt, Emmanuelle Uro-Coste, Ulrike Walther-Louvier, Marie-Laure Martin Negrier
Publikováno v:
Journal of Molecular Diagnostics
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2018, 20 (4), pp.533-549. ⟨10.1016/j.jmoldx.2018.04.001⟩
Journal of Molecular Diagnostics, American Society for Investigative Pathology (ASIP), 2018, 20 (4), pp.533-549. ⟨10.1016/j.jmoldx.2018.04.001⟩
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with >100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes. Next-generation sequencing technology revolutionized M-MD diagnosis a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add248125fe564592e73b4d3c06bc350
https://hal.umontpellier.fr/hal-01800470/document
https://hal.umontpellier.fr/hal-01800470/document
Autor:
Xavier Ferrer-Monasterio, Guy Brochier, Marie-Laure Martin-N, Jean Lacau Saint-Guily, Bruno Eymard, Norma B. Romero, Teresa Gidaro, Capucine Trollet, Michel Fardeau, L. Demay, Guilhem Sol, Pascal Lafor, Pascale Richard, Fernando Ms Tom, Edoardo Malfatti
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2015, 2 (2), pp.175-180. ⟨10.3233/JND-140060⟩
Journal of Neuromuscular Diseases, 2015, 2 (2), pp.175-180. ⟨10.3233/JND-140060⟩
Oculopharyngeal muscular dystrophy (OPMD) is mainly characterized by ptosis and dysphagia. The genetic cause is a short expansion of a (GCN)10 repeat encoding for polyalanine in the poly(A) binding protein nuclear 1 (PABPN1) gene to (GCN)12–17 repe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fb1ebc0675a75cf82f4ef07a153e22c
https://pubmed.ncbi.nlm.nih.gov/27858728
https://pubmed.ncbi.nlm.nih.gov/27858728
Autor:
Nicolas, Taisne, Claude, Desnuelle, Raul, Juntas Morales, Xavier, Ferrer Monasterio, Sabrina, Sacconi, Fanny, Duval, Guilhem, Sole, René Marc, Flipo, Arnaud, Lacour, Patrick, Vermersch, Thierry, Cardon
Publikováno v:
Musclenerve. 56(1)
Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available.Having diagnosed a case of LOPD presenting with bent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17063cffc0ae3247a96c9e87d2c9b63d
https://pubmed.ncbi.nlm.nih.gov/27862019
https://pubmed.ncbi.nlm.nih.gov/27862019