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P Guicheney

Showing results (121-130 of 143) with videos related to

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Revue Neurologique|June 9, 2000
[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene]M Fardeau, P Vicart, A Caron, et al.
Journal of Medical Genetics|February 1, 1997
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophyI S Naom, M D'Alessandro, H Topaloglu, et al.
Neurology|October 10, 2001
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular studyY He, K J Jones, N Vignier, et al.
Journal of Molecular and Cellular Cardiology|February 1, 1997
The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutationF Tesson, C Dufour, J C Moolman, et al.
Neurology|July 20, 2007
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutationA Yanagisawa, C Bouchet, P Y K Van den Bergh, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2005
Giant axonal neuropathy: clinical and genetic study in six casesE Demir, P Bomont, S Erdem, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1997
Penetrance of familial hypertrophic cardiomyopathyP Charron, L Carrier, O Dubourg, et al.
Neurology|December 28, 2006
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 geneD Fischer, M Herasse, A Ferreiro, et al.
Journal of Medical Genetics|November 8, 2005
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patientsA V Postma, I Denjoy, J Kamblock, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.
Pageof 15

Showing results (121-130 of 143) with videos related to

Sort By:
Pageof 15
Revue Neurologique|June 9, 2000
[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene]M Fardeau, P Vicart, A Caron, et al.
Journal of Medical Genetics|February 1, 1997
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophyI S Naom, M D'Alessandro, H Topaloglu, et al.
Neurology|October 10, 2001
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular studyY He, K J Jones, N Vignier, et al.
Journal of Molecular and Cellular Cardiology|February 1, 1997
The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutationF Tesson, C Dufour, J C Moolman, et al.
Neurology|July 20, 2007
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutationA Yanagisawa, C Bouchet, P Y K Van den Bergh, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 18, 2005
Giant axonal neuropathy: clinical and genetic study in six casesE Demir, P Bomont, S Erdem, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1997
Penetrance of familial hypertrophic cardiomyopathyP Charron, L Carrier, O Dubourg, et al.
Neurology|December 28, 2006
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 geneD Fischer, M Herasse, A Ferreiro, et al.
Journal of Medical Genetics|November 8, 2005
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patientsA V Postma, I Denjoy, J Kamblock, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndromeM Villanova, E Mercuri, E Bertini, et al.
Pageof 15