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Telethonin protein expression in neuromuscular disorders
(Elsevier B.V., 2002-10-09)
Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric ...
Axonal sprouting in mdx mice and its relevance to cell and gene mediated therapies for Duchenne muscular dystrophy
(Elsevier Sci Ireland LtdClareIrlanda, 2003)
SARCOPLASMIC-ENDOPLASMIC-RETICULUM CA(2+)-ATPASE AND CALSEQUESTRIN ARE OVEREXPRESSED IN SPARED INTRINSIC LARYNGEAL MUSCLES OF DYSTROPHIN-DEFICIENT MDX MICE
(John Wiley & Sons IncHobokenEUA, 2009)
Management of neuromuscular diseases and spinal muscular atrophy in Latin America
(Nature Publishing Group, 2017-09)
Latin America (LA) has a population of ∼645 million people distributed over 33 countries with marked political, cultural and economic differences. In LA, patients with inherited neuromuscular diseases (NMDs) often do not ...