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Neuromuscular Disorders : NMD|November 18, 2005
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2ISilvia Torelli, Susan C Brown, Martin Brockington, et al.Annals of Neurology|April 1, 2003
Phenotypic spectrum associated with mutations in the fukutin-related protein geneEugenio Mercuri, Martin Brockington, Volker Straub, et al.Pediatric Pulmonology|August 30, 2016
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophyGunnar M Buyse, Thomas Voit, Ulrike Schara, et al.Neurology|February 19, 2016
Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophyJean-Yves Hogrel, Claire Wary, Amélie Moraux, et al.Acta Neuropathologica|January 20, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical studyKristl G Claeys, Peter F M van der Ven, Anthony Behin, et al.Neuromuscular Disorders : NMD|August 9, 2005
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centersMariz Vainzof, Pascale Richard, Ralf Herrmann, et al.Neuromuscular Disorders : NMD|August 2, 2015
GNE myopathy in Roma patients homozygous for the p.I618T founder mutationTeodora Chamova, Velina Guergueltcheva, Mariana Gospodinova, et al.American Journal of Human Genetics|August 23, 2002
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathiesAna Ferreiro, Susana Quijano-Roy, Claire Pichereau, et al.Human Mutation|July 23, 2003
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth DiseaseMichael Hunter, Rafaëlle Bernard, Elizabeth Freitas, et al.Nature Medicine|February 3, 2015
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomersAurélie Goyenvalle, Graziella Griffith, Arran Babbs, et al.Pageof 16