ABSTRACT Background Plain‐language definitions help patients and the public engage in research, but some technical terms are easier to understand with visual aids. Furthermore, many people find visual aids more intuitive when learning new concepts.
Clareece R. Nevill +10 more
wiley +1 more source
ABSTRACT Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, yet its underlying genetic and molecular mechanisms remain incompletely understood. Variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, are not only responsible for Gaucher disease (GD) but also represent a significant genetic risk factor ...
Alessio Ardizzone +8 more
wiley +1 more source
Duchenne muscular dystrophy (DMD) is a progressive and severe X-linked recessive disorder characterized by progressive muscle weakness due to degeneration of muscle fibers resulting in a shortened life span.
Ninsiima , Karen Tukahirwa Jessica
core
Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core
Correction: Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy. [PDF]
Fernández-Simón E +9 more
europepmc +1 more source
Electrical Stimulation Use in Duchenne Muscular Dystrophy - An Evidence Based Analysis
It is estimated that 1 in every 3,500-5,000 males born in the United States are born with Duchenne Muscular Dystrophy (DMD). DMD is a debilitating disease that progressively weakens skeletal, cardiac, and pulmonary muscles due to the lack of the protein ...
Lindsey F. Borders
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Gene Editing Strategies for Duchenne Muscular Dystrophy: From Molecular Mechanisms to Clinical Translation. [PDF]
Siddika A +5 more
europepmc +1 more source
Ataluren for the treatment of people living with nonsense mutation Duchenne muscular dystrophy: a plain language summary of Study 041. [PDF]
Wu S +3 more
europepmc +1 more source
Conceptualization and design of an Ayurveda framework for the diagnosis of Duchenne Muscular Dystrophy: insights from a prospective cohort study. [PDF]
Kumar S +4 more
europepmc +1 more source
Clinical Care and Rehabilitation in Neuromuscular Disorders-Why It Highly Matters. [PDF]
Gdynia HJ.
europepmc +1 more source

