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Neurology|November 8, 2014
Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCTNicol C Voermans, Olivier Benveniste, Monique C Minnema, et al.Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.JAMA Neurology|February 7, 2018
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1Karim Wahbi, Raphaël Porcher, Pascal Laforêt, et al.Journal of Medical Genetics|October 19, 2014
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1Johann Böhm, Frédéric Chevessier, Catherine Koch, et al.Journal of Neurology, Neurosurgery, and Psychiatry|August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificityMaya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, et al.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.Annals of Neurology|June 14, 2008
De novo LMNA mutations cause a new form of congenital muscular dystrophySusana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, 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.Pageof 26