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F Leturcq

Showing results (21-30 of 50) with videos related to

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American Journal of Human Genetics|August 1, 1993
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophinK Matsumura, I Nonaka, F M Tomé, et al.
Neuromuscular Disorders : NMD|February 3, 1998
A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase lociN B Romero, D Récan, O Rigal, et al.
Human Molecular Genetics|December 1, 1994
Adhalin gene polymorphismV Allamand, F Leturcq, F Piccolo, et al.
Neuromuscular Disorders : NMD|June 19, 2001
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin geneN B Romero, P De Lonlay, S Llense, et al.
Neuropathology and Applied Neurobiology|May 11, 2017
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophyA Vihola, H Luque, M Savarese, et al.
Cell|August 26, 1994
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyS L Roberds, F Leturcq, V Allamand, et al.
Neurology. Genetics|October 22, 2016
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)S T Oestergaard, T Stojkovic, J R Dahlqvist, et al.
Annales De Biologie Clinique|August 10, 2000
[Molecular analysis and prenatal diagnosis of beta-thalassemia: about our experience in central Tunisia]S Laradi, A Haj Khelil, H Omri, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1994
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiencyN B Romero, F M Tomé, F Leturcq, et al.
International Journal of Cardiology|October 9, 2012
Dilated cardiomyopathy in patients with mutations in anoctamin 5K Wahbi, A Béhin, H M Bécane, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|August 1, 1993
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophinK Matsumura, I Nonaka, F M Tomé, et al.
Neuromuscular Disorders : NMD|February 3, 1998
A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase lociN B Romero, D Récan, O Rigal, et al.
Human Molecular Genetics|December 1, 1994
Adhalin gene polymorphismV Allamand, F Leturcq, F Piccolo, et al.
Neuromuscular Disorders : NMD|June 19, 2001
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin geneN B Romero, P De Lonlay, S Llense, et al.
Neuropathology and Applied Neurobiology|May 11, 2017
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophyA Vihola, H Luque, M Savarese, et al.
Cell|August 26, 1994
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophyS L Roberds, F Leturcq, V Allamand, et al.
Neurology. Genetics|October 22, 2016
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)S T Oestergaard, T Stojkovic, J R Dahlqvist, et al.
Annales De Biologie Clinique|August 10, 2000
[Molecular analysis and prenatal diagnosis of beta-thalassemia: about our experience in central Tunisia]S Laradi, A Haj Khelil, H Omri, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|January 1, 1994
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiencyN B Romero, F M Tomé, F Leturcq, et al.
International Journal of Cardiology|October 9, 2012
Dilated cardiomyopathy in patients with mutations in anoctamin 5K Wahbi, A Béhin, H M Bécane, et al.
Pageof 5