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P Guicheney

Showing results (131-140 of 143) with videos related to

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Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locusN B Romero, M Herasse, N Monnier, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosisP Guicheney, N Vignier, A Helbling-Leclerc, et al.
Circulation|September 8, 1999
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcriptsA Murray, C Donger, C Fenske, et al.
American Journal of Human Genetics|October 10, 2001
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.
Neuropathology and Applied Neurobiology|November 11, 2010
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganizationJ A Bevilacqua, N Monnier, M Bitoun, et al.
Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.
Neuromuscular Disorders : NMD|January 31, 2009
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotypeS Vuillaumier-Barrot, S Quijano-Roy, C Bouchet-Seraphin, et al.
Human Mutation|November 26, 1998
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathyF Tesson, P Richard, P Charron, et al.
Neuromuscular Disorders : NMD|May 18, 2004
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)E Bertini, V Biancalana, A Bolino, 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.
Pageof 15

Showing results (131-140 of 143) with videos related to

Sort By:
Pageof 15
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locusN B Romero, M Herasse, N Monnier, et al.
Neuromuscular Disorders : NMD|May 1, 1997
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosisP Guicheney, N Vignier, A Helbling-Leclerc, et al.
Circulation|September 8, 1999
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcriptsA Murray, C Donger, C Fenske, et al.
American Journal of Human Genetics|October 10, 2001
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.
Neuropathology and Applied Neurobiology|November 11, 2010
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganizationJ A Bevilacqua, N Monnier, M Bitoun, et al.
Annals of Neurology|November 18, 2000
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 casesA Ferreiro, B Estournet, D Chateau, et al.
Neuromuscular Disorders : NMD|January 31, 2009
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotypeS Vuillaumier-Barrot, S Quijano-Roy, C Bouchet-Seraphin, et al.
Human Mutation|November 26, 1998
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathyF Tesson, P Richard, P Charron, et al.
Neuromuscular Disorders : NMD|May 18, 2004
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)E Bertini, V Biancalana, A Bolino, 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.
Pageof 15