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B Estournet

Showing results (51-60 of 59) with videos related to

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Revue Neurologique|July 23, 2004
[Congenital myasthenic syndromes due to mutations in the rapsyn gene]B Eymard, C Ioos, A Barois, et al.
Neuromuscular Disorders : NMD|December 10, 2013
Diaphragmatic dysfunction in Collagen VI myopathiesS Quijano-Roy, S Khirani, M Colella, 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.
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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 18, 2014
[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods]C Barnérias, S Quijano, M Mayer, et al.
Neuromuscular Disorders : NMD|October 6, 2005
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The NetherlandsE Bertini, A Burghes, K Bushby, 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.
European Journal of Neurology|October 14, 2020
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathiesR Guimarães-Costa, G Fernández-Eulate, K Wahbi, et al.
Pageof 6

Showing results (51-60 of 59) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 59 results.
Revue Neurologique|July 23, 2004
[Congenital myasthenic syndromes due to mutations in the rapsyn gene]B Eymard, C Ioos, A Barois, et al.
Neuromuscular Disorders : NMD|December 10, 2013
Diaphragmatic dysfunction in Collagen VI myopathiesS Quijano-Roy, S Khirani, M Colella, 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.
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.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 18, 2014
[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods]C Barnérias, S Quijano, M Mayer, et al.
Neuromuscular Disorders : NMD|October 6, 2005
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The NetherlandsE Bertini, A Burghes, K Bushby, 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.
European Journal of Neurology|October 14, 2020
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathiesR Guimarães-Costa, G Fernández-Eulate, K Wahbi, et al.
Pageof 6