Results 241 to 250 of about 304,862 (304)

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study. [PDF]

open access: yesJ Neurol Neurosurg Psychiatry
Riguzzi P   +26 more
europepmc   +1 more source

LKB1 Dysregulation in Duchenne Muscular Dystrophy Models: Disease Specificity and Epigenetic Control by HDAC Inhibitors. [PDF]

open access: yesAnn N Y Acad Sci
Boccanegra B   +17 more
europepmc   +1 more source

Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children: A Systematic Review and Meta-Analysis. [PDF]

open access: yesNeurol Genet
Antonello BB   +7 more
europepmc   +1 more source

Muscular Dystrophies

Clinics in Chest Medicine, 2018
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter   +3 more
openaire   +2 more sources

Muscular dystrophies

Current Opinion in Neurology, 2002
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
openaire   +2 more sources

Muscular dystrophies

The Indian Journal of Pediatrics, 2004
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect ...
Monisha, Mukherjee, Balraj, Mittal
openaire   +2 more sources

Muscular dystrophies

The Lancet, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes.
Mercuri, Eugenio Maria, Muntoni, F.
openaire   +3 more sources

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