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B Romero

Showing results (311-320 of 337) with videos related to

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Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Acta Neuropathologica Communications|October 30, 2019
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairmentPascal Laforêt, Michio Inoue, Evelyne Goillot, et al.
Annals of Neurology|June 14, 2008
De novo LMNA mutations cause a new form of congenital muscular dystrophySusana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, et al.
Human Gene Therapy|December 22, 2004
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophyNorma B Romero, Serge Braun, Olivier Benveniste, et al.
Brain : a Journal of Neurology|January 14, 2012
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2CSerge Herson, Faycal Hentati, Aude Rigolet, et al.
Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.
Acta Neuropathologica Communications|July 9, 2022
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesClémence Labasse, Guy Brochier, Ana-Lia Taratuto, et al.
Annals of Neurology|April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathyJosine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.
Pageof 34

Showing results (311-320 of 337) with videos related to

Sort By:
Pageof 34
Neuromuscular Disorders : NMD|March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
Acta Neuropathologica Communications|October 30, 2019
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairmentPascal Laforêt, Michio Inoue, Evelyne Goillot, et al.
Annals of Neurology|June 14, 2008
De novo LMNA mutations cause a new form of congenital muscular dystrophySusana Quijano-Roy, Blaise Mbieleu, Carsten G Bönnemann, et al.
Human Gene Therapy|December 22, 2004
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophyNorma B Romero, Serge Braun, Olivier Benveniste, et al.
Brain : a Journal of Neurology|January 14, 2012
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2CSerge Herson, Faycal Hentati, Aude Rigolet, et al.
Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.
Acta Neuropathologica Communications|July 9, 2022
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesClémence Labasse, Guy Brochier, Ana-Lia Taratuto, et al.
Annals of Neurology|April 14, 2016
Mutation-specific effects on thin filament length in thin filament myopathyJosine M de Winter, Barbara Joureau, Eun-Jeong Lee, et al.
Pageof 34