Results 11 to 20 of about 19,684 (296)

Orofacial Manifestations Associated with Muscular Dystrophies: A Review [PDF]

open access: yesTurkish Journal of Orthodontics, 2022
The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy ...
Petros Papaefthymiou   +2 more
doaj   +3 more sources

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   +3 more sources

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations [PDF]

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   +2 more sources

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

open access: yesIndian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah   +2 more
doaj   +1 more source

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

open access: yesInt J Mol Sci
Muscular dystrophies are a class of diseases characterized by muscular weakness, breakdown, and heavily impaired function and quality of life. Numerous types of muscular dystrophies have been identified, with different causative genes and dystrophic ...
Wilton-Clark H   +3 more
europepmc   +2 more sources

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

open access: yesMolecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou   +1 more
doaj   +1 more source

Implications of notch signaling in duchenne muscular dystrophy

open access: yesFrontiers in Physiology, 2022
This review focuses upon the implications of the Notch signaling pathway in muscular dystrophies, particularly Duchenne muscular dystrophy (DMD): a pervasive and catastrophic condition concerned with skeletal muscle degeneration.
Lily Den Hartog, Atsushi Asakura
doaj   +1 more source

Muscular dystrophy [PDF]

open access: yesNeuropathology, 2000
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
  +7 more sources

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

open access: yes, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Skeletal muscle in health and disease

open access: yesDisease Models & Mechanisms, 2020
Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (i.e. they are no longer able to divide) and perform muscle contraction.
Jennifer Morgan, Terence Partridge
doaj   +1 more source

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