PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy [PDF]
, 2007 The coactivator PGC-1alpha mediates key responses of skeletal muscle to motor nerve activity. We show here that neuregulin-stimulated phosphorylation of PGC-1alpha and GA-binding protein (GABP) allows recruitment of PGC-1alpha to the GABP complex and ...
Handschin, C. +11 more
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Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]
, 2003 The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
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The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]
, 2016 With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M +8 more
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The effects of Bodymax high-repetition resistance training on measures of body composition and muscular strength in active adult women [PDF]
, 2003 This is the author's PDF version of an article published in Journal of Strength and Conditioning Research in 2003. The definitive version is available at http://www.nsca-jscr.orgThe purpose of this study was to investigate the effects of a light, high ...
O'Connor, Tracey E., Lamb, Kevin L.
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Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]
, 2016 This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller +23 more
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Diagnosis of muscular dystrophies at the nanometer scale [PDF]
, 2009 The diagnosis of muscular dystrophies or the assessment of the functional benefit of gene or cell therapies can be difficult, especially for poorly accessible muscles, and it often lacks a single-fiber resolution.
Kuntzer, T. +4 more
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Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials
, 2022 Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the ...
Emerson, Charles P. Jr. +2 more
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Intellectual and behavioural functioning in boys with Duchenne Muscular Dystrophy : neuropsychological testing and correlation with genotype [PDF]
, 2008 Includes bibliographical references (leaves 76-82).The spectrum of central nervous system manifestations of DMD is less well described than its musculoskeletal aspects. Although international studies have reported intellectual function ranging from above-
Donald, Kirsten Ann Mary
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Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan [PDF]
, 2010 The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
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Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M. +8 more
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