Results 41 to 50 of about 342,419 (394)

Immunobiology of Inherited Muscular Dystrophies.

open access: yesComprehensive Physiology, 2018
The immune response to acute muscle damage is important for normal repair. However, in chronic diseases such as many muscular dystrophies, the immune response can amplify pathology and play a major role in determining disease severity.
J. Tidball   +2 more
semanticscholar   +1 more source

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]

open access: yes, 2013
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene   +11 more
core   +2 more sources

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

open access: yesInternational Journal of Endocrinology, 2012
Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Oriana del Rocío Cruz Guzmán   +2 more
doaj   +1 more source

Hereditary muscular dystrophies

open access: yesБюллетень сибирской медицины, 2009
Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific ...
V. B. Doronin, O. B. Doronina
doaj   +1 more source

Anaesthetic Management in Duchenne Muscular Dystrophy Patient with TIVA Using Combination of Propofol and Dexmedetomidine Complimented with USG Guided ESPB Block- A Case Report

open access: yesArchives of Anesthesia and Critical Care, 2022
Muscular dystrophies are a group of genetic diseases which cause progressive degeneration of skeletal muscle along with weakness. They are characterized by an impaired synthesis or regeneration of contractile protein.
Jyoti Deshpande   +2 more
doaj   +1 more source

Hydrogel biomaterials and their therapeutic potential for muscle injuries and muscular dystrophies

open access: yesJournal of the Royal Society Interface, 2018
Muscular diseases such as muscular dystrophies and muscle injuries constitute a large group of ailments that manifest as muscle weakness, atrophy or fibrosis.
Rachel Lev, D. Seliktar
semanticscholar   +1 more source

Zebrafish models flex their muscles to shed light on muscular dystrophies

open access: yesDisease Models & Mechanisms, 2012
Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening.
Joachim Berger, Peter D. Currie
doaj   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

open access: yes, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R.   +4 more
core   +1 more source

Facioscapulohumeral muscular dystrophy

open access: yesBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der   +2 more
openaire   +4 more sources

Muscular dystrophy meets protein biochemistry, the mother of invention [PDF]

open access: yes, 2017
Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ...
Jeffrey H. Miner   +3 more
core   +2 more sources

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