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M Fardeau

Showing results (271-280 of 289) with videos related to

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Neurology|October 7, 2009
Core-rod myopathy caused by mutations in the nebulin geneN B Romero, V-L Lehtokari, S Quijano-Roy, et al.
Nature Medicine|May 6, 1999
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2AS Baghdiguian, M Martin, I Richard, et al.
Journal of Medical Genetics|June 17, 2003
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromesP Richard, K Gaudon, F Andreux, et al.
Neurology|May 1, 1997
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophyB Eymard, N B Romero, F Leturcq, et al.
Journal of Medical Genetics|June 1, 1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A Carrié, F Piccolo, F Leturcq, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSKF Chevessier, B Faraut, A Ravel-Chapuis, et al.
Journal of Medical Genetics|April 16, 1998
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophyP Guicheney, N Vignier, X Zhang, et al.
Nature Genetics|February 14, 1998
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophyB Brais, J P Bouchard, Y G Xie, et al.
Neurology|September 4, 2008
Distinct muscle imaging patterns in myofibrillar myopathiesD Fischer, R A Kley, K Strach, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.
Pageof 29

Showing results (271-280 of 289) with videos related to

Sort By:
Pageof 29
Neurology|October 7, 2009
Core-rod myopathy caused by mutations in the nebulin geneN B Romero, V-L Lehtokari, S Quijano-Roy, et al.
Nature Medicine|May 6, 1999
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2AS Baghdiguian, M Martin, I Richard, et al.
Journal of Medical Genetics|June 17, 2003
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromesP Richard, K Gaudon, F Andreux, et al.
Neurology|May 1, 1997
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophyB Eymard, N B Romero, F Leturcq, et al.
Journal of Medical Genetics|June 1, 1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A Carrié, F Piccolo, F Leturcq, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSKF Chevessier, B Faraut, A Ravel-Chapuis, et al.
Journal of Medical Genetics|April 16, 1998
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophyP Guicheney, N Vignier, X Zhang, et al.
Nature Genetics|February 14, 1998
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophyB Brais, J P Bouchard, Y G Xie, et al.
Neurology|September 4, 2008
Distinct muscle imaging patterns in myofibrillar myopathiesD Fischer, R A Kley, K Strach, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.
Pageof 29