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M Fardeau

Showing results (281-290 of 289) with videos related to

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Human Molecular Genetics|December 14, 2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1CM Brockington, Y Yuva, P Prandini, et al.
Nature Genetics|September 10, 1998
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophyJ Liu, M Aoki, I Illa, et al.
Neuromuscular Disorders : NMD|January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathyC Wallgren-Pettersson, K Pelin, P Hilpelä, et al.
Neuromuscular Disorders : NMD|December 1, 1996
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophiesJ S Beckmann, I Richard, O Broux, et al.
Revue Neurologique|September 17, 2016
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNCD Avila-Smirnow, L Gueneau, S Batonnet-Pichon, et al.
Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.
Journal of Neurology|December 17, 2009
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7A Ben Ammar, F Petit, N Alexandri, et al.
American Journal of Human Genetics|May 20, 1999
Calpainopathy-a survey of mutations and polymorphismsI Richard, C Roudaut, A Saenz, et al.
Neurology|July 27, 2001
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathyM Aoki, J Liu, I Richard, et al.
Pageof 29

Showing results (281-290 of 289) with videos related to

Sort By:
Pageof 29
You have reached the last page of results.This site can display upto 289 results.
Human Molecular Genetics|December 14, 2001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1CM Brockington, Y Yuva, P Prandini, et al.
Nature Genetics|September 10, 1998
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophyJ Liu, M Aoki, I Illa, et al.
Neuromuscular Disorders : NMD|January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathyC Wallgren-Pettersson, K Pelin, P Hilpelä, et al.
Neuromuscular Disorders : NMD|December 1, 1996
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophiesJ S Beckmann, I Richard, O Broux, et al.
Revue Neurologique|September 17, 2016
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNCD Avila-Smirnow, L Gueneau, S Batonnet-Pichon, et al.
Annals of Neurology|August 12, 2000
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C geneG Bonne, E Mercuri, A Muchir, et al.
Journal of Neurology|December 17, 2009
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7A Ben Ammar, F Petit, N Alexandri, et al.
American Journal of Human Genetics|May 20, 1999
Calpainopathy-a survey of mutations and polymorphismsI Richard, C Roudaut, A Saenz, et al.
Neurology|July 27, 2001
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathyM Aoki, J Liu, I Richard, et al.
Pageof 29