Results 131 to 140 of about 4,506 (155)

Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9. [PDF]

PLoS One
Rauh SS, Baudin PY, Stojkovic T, Birnbaum S, Decostre V, Zanfongnon RL, Fromes Y, Hooijmans MT, Strijkers GJ, Hogrel JY, Olivier S, Marty B, Reyngoudt H.   +12 more
europepmc   +1 more source

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength. [PDF]

Orphanet J Rare Dis
Cheema I, Goodwin J, Liewluck T, Bucelli RC, Pestronk A, Milone M.   +5 more
europepmc   +1 more source

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets. [PDF]

Genet Med
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Folland C, Peric S, Fahmy N, Udd B, Horáková M, Łusakowska A, Manoj R, Nalini A, Karcagi V, Polavarapu K, Lochmüller H, Horvath R, Bönnemann CG, Donkervoort S, Haliloğlu G, Herguner O, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A.   +38 more
europepmc   +1 more source

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A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

New England Journal of Medicine, 2011
Burcu Balci-Hayta, Takako Yoshida-Moriguchi, Motoi Kanagawa   +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
Marc Bartoli, Isabelle Richard
exaly  

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Nature Genetics, 1998
Elizabeth Vafiadaki, Majlinda Lako, Isabelle Richard   +2 more
exaly  

REVERSIBLE LIMB-GIRDLE MUSCULAR DYSTROPHY

Lancet, The, 1988
exaly   +2 more sources