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Acta Neuropathologica|January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical studyKristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.Neuromuscular Disorders : NMD|March 31, 2009
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiencyPascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, et al.Scientific Reports|June 17, 2024
Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histologyFrédérique Truffault, Ludivine Auger, Nadine Dragin, et al.Neuromuscular Disorders : NMD|December 17, 2013
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophiesLinda L Bachinski, Keith A Baggerly, Valerie L Neubauer, et al.Neuromuscular Disorders : NMD|April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementiaTanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.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.Pageof 21