Results 31 to 40 of about 254,202 (199)
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
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core +1 more source
Heart failure in Duchenne's progressive muscular dystrophy (case report)
Евразийский Кардиологический ЖурналProgressive Duchenne muscular dystrophy is a common X-linked recessive myopathy caused by a mutations in the gene encoding dystrophin. Duchenne muscular dystrophy is characterized by damage to the heart muscle with conduction and rhythm disturbances, and
S. D. Mayanskaya +3 more
doaj +1 more source
Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy
Cells, 2018 Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles.
Lubos Danisovic +2 more
doaj +1 more source
Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane +19 more
wiley +1 more source
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]
, 2016 With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M +8 more
core
Journal of Patient-Reported Outcomes, 2021 Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams +4 more
doaj +1 more source
Myogenic Fusogen‐Engineered Lipid Nanoparticles Enhance mRNA Delivery in Skeletal Muscle
Advanced Functional Materials, EarlyView.This study reports a biomimetic strategy of engineering full‐length Myomaker, a muscle‐specific fusogen, into lipid nanoparticles (LNPs) to harness the native myoblast fusion capability for skeletal muscle mRNA delivery. The resulting Mymk‐LNPs enhance transfection in differentiating myocytes and enable Cre‐mediated reporter activation in injured ...
Fangyu Zhang +18 more
wiley +1 more source
X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy
Pharmaceuticals, 2015 X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj +1 more source
Advanced Materials, EarlyView.Using a bottom‐up approach, we engineered a human neuromuscular microchip to investigate distinct adaptive responses to neural stimulation and metabolic stress. Further integration of endothelial cells revealed their critical role in modulating neuromuscular excitability, establishing a comprehensive neurovascular‐muscular model.
Jinchul Ahn +17 more
wiley +1 more source