Results 151 to 160 of about 7,259,281 (171)

Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: “Double trouble” overlapping syndrome?

Journal of the Neurological Sciences, 2015
Anna Scalise, Sara Simeoni, Gian Luigi Gigli   +2 more
exaly  

Dysferlin aggregation in limb‐girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis

Muscle and Nerve, 2013
Mats I. Nilsson, Marissa Laureano, M. Saeed, Mark A. Tarnopolsky   +3 more
semanticscholar   +1 more source

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

American Journal of Medical Genetics, Part A, 2000
Elizabeth M. McNally, Zohar Argov, Hanna Rosenmann   +2 more
exaly  

Limb-Girdle Muscular Dystrophy in the United States

Journal of Neuropathology and Experimental Neurology, 2006
Steven A Moore, Kevin Campbell, Katherine Mathews   +2 more
exaly  

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.

Neuromuscular Disorders, 2006
M. Fanin, A. Nascimbeni, C. Angelini
semanticscholar   +1 more source

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

Muscle and Nerve, 2015
Corrado Angelini, Marina Fanin
exaly  

[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
Zhenjun Liu, Hong Liao, Xuemei Zhang, Haixia Zhang, Hong-Qian Liu, He Wang, Shan-Ling Liu   +6 more
semanticscholar   +1 more source

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

Muscle and Nerve, 2011
John Vissing, Gianni Sorarù, Luca Bello
exaly  

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Neuromuscular Disorders, 2014
Kevin M. Flanigan, Aaron D Gitler, Jason D. Buenrostro   +2 more
exaly  

Safety and Efficacy of AAV-Mediated Calpain 3 Gene Transfer in a Mouse Model of Limb-Girdle Muscular Dystrophy Type 2A

Molecular Therapy, 2006
Isabelle Richard, Marc Bartoli, Olivier Danos   +2 more
exaly