Results 51 to 60 of about 342,419 (394)
Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies
Journal of Cachexia, Sarcopenia and Muscle, 2018 Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype.
P. Spitali +16 more
semanticscholar +1 more source
Facioscapulohumeral Muscular Dystrophy [PDF]
Neurologic Clinics, 2014 This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey Statland, Rabi Tawil
openaire +6 more sources
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
doaj +1 more source
Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data [PDF]
, 2006 Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer, EJ +4 more
core +2 more sources
Archivum Immunologiae et Therapiae Experimentalis, 2018 Muscular dystrophies represent a group of diseases which may develop in several forms, and severity of the disease is usually associated with gene mutations.
A. Klimczak, U. Kozłowska, M. Kurpisz
semanticscholar +1 more source
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
doaj +1 more source
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
doaj +1 more source
Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]
, 2014 Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph +1 more
core +1 more source
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens
Journal of Neuromuscular Diseases, 2019 The recent availability and development of mutant and transgenic zebrafish strains that model human muscular dystrophies has created new research opportunities for therapeutic development. Not only do these models mimic many pathological aspects of human
J. Widrick +4 more
semanticscholar +1 more source
Fortnightly review: The muscular dystrophies
BMJ, 1998 The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal ...
openaire +6 more sources