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Journal of Neuromuscular Diseases|December 20, 2018
Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to AdulthoodAbdallah Fayssoil, Cendrine Chaffaut, Adam Ogna, et al.Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.American Journal of Human Genetics|September 1, 2009
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyLucie Gueneau, Anne T Bertrand, Jean-Philippe Jais, et al.Journal of Autoimmunity|October 10, 2019
Risk factors associated with myasthenia gravis in thymoma patients: The potential role of thymic germinal centersClaire Mj Lefeuvre, Cloé A Payet, Odessa-Maud Fayet, et al.Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.Journal De La Societe De Biologie|August 24, 2005
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.Plos One|January 18, 2013
A mutation causes MuSK reduced sensitivity to agrin and congenital myastheniaAsma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, et al.European Heart Journal|December 13, 2016
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1Karim Wahbi, Dominique Babuty, Vincent Probst, et al.Human Molecular Genetics|October 22, 2004
MUSK, a new target for mutations causing congenital myasthenic syndromeFrédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, et al.Plos One|October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophyDaniela Rossi, Johanna Palmio, Anni Evilä, et al.Pageof 21