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Hereditary muscular dystrophies
Бюллетень 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
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Archives 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
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Crystal structures of the human Dysferlin inner DysF domain [PDF]
, 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
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Immunobiology of Inherited Muscular Dystrophies
Comprehensive 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
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Zebrafish models flex their muscles to shed light on muscular dystrophies
Disease 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
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Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]
, 2012 BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo +2 more
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Epigenetic reprogramming of muscle progenitors: inspiration for clinical therapies [PDF]
, 2015 In the context of regenerative medicine, based on the potential of stem cells to restore diseased tissues, epigenetics is becoming a pivotal area of interest.
Consalvi, Silvia +2 more
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Brain Sciences, 2015 Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM).
Bailey Nichols +2 more
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Distrofias musculares en el paciente adulto
Revista Médica Clínica Las Condes, 2018 RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética.
Nicholas Earle, MD +1 more
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Surprising genotype expressed as a common limb-girdle muscular dystrophy [PDF]
Romanian Journal of Neurology, 2017 Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture suggestive for LGMD with ...
Liviu Cozma +4 more
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