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Neuromuscular Disorders : NMD|February 13, 2010
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)Andres Berardo, Jorida Coku, Bulent Kurt, et al.Neuromuscular Disorders : NMD|June 19, 2017
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literatureCarola Hedberg-Oldfors, Niklas Darin, Anders OldforsNeuromuscular Disorders : NMD|February 26, 2010
Centronuclear myopathies: a widening conceptNorma Beatriz RomeroNeuromuscular Disorders : NMD|August 12, 2018
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein geneJake Plewa, Abhilasha Surampalli, Marie Wencel, et al.Neuromuscular Disorders : NMD|August 12, 2018
Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trialBrigitte Fauroux, Alessandro Amaddeo, Susana Quijano-Roy, et al.Neuromuscular Disorders : NMD|July 16, 2018
A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvementLidia Gonzalez-Quereda, Eduard Gallardo, Ana Töpf, et al.Neuromuscular Disorders : NMD|May 31, 2017
Dramatic elevation in urinary amino terminal titin fragment excretion quantified by immunoassay in Duchenne muscular dystrophy patients and in dystrophin deficient rodentsAlan S Robertson, Mark J Majchrzak, Courtney M Smith, et al.Neuromuscular Disorders : NMD|June 12, 2017
Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophyAmi Mankodi, Noura Azzabou, Thomas Bulea, et al.Neuromuscular Disorders : NMD|March 9, 2010
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutationsFatemeh Geranmayeh, Emma Clement, Lucy H Feng, et al.Neuromuscular Disorders : NMD|April 9, 2018
From excitation to intracellular Ca2+ movements in skeletal muscle: Basic aspects and related clinical disordersBruno AllardPageof 341