Skip to search formSkip to main contentSkip to account menu
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which…
View on PubMed
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
View on PubMed
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
TLDR
The data represent the most extensive study of RYR1-related myopathies and indicate complex genotype-phenotype correlations associated with mutations differentially affecting assembly and function of the RyR1 calcium release channel.
View on PubMed
Consensus on Exercise Reporting Template (CERT): Modified Delphi Study
TLDR
The CERT, a 16-item checklist developed by an international panel of exercise experts, is designed to improve the reporting of exercise programs in all evaluative study designs and contains 7 categories: materials, provider, delivery, location, dosage, tailoring, and compliance.
View on Publisher
Ataluren treatment of patients with nonsense mutation dystrophinopathy
TLDR
As the first investigational new drug targeting the underlying cause of nm‐dystrophinopathy, ataluren offers promise as a treatment for this orphan genetic disorder with high unmet medical need.
View on Wiley
RYR1 mutations are a common cause of congenital myopathies with central nuclei
TLDR
This work investigated whether RYR1 mutations cause CNM, a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy that has been associated with mutations in MTM1, DNM2, and BIN1.
View on Wiley
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
View on Elsevier
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
TLDR
This study provides a framework for providing information to patients with Duchenne muscular dystrophy and their families when introducing GC therapy, and clearly identifies the benefits and the side-effect profile of two treatment regimens, which will help with informed choices and implementation of targeted surveillance.
View on Publisher
Muscle histology vs MRI in Duchenne muscular dystrophy
TLDR
This study provides a detailed correlation between muscle histology and MRI changes in DMD and demonstrates the value of this imaging technique as a reliable tool for the selection of muscles in patients recruited into clinical trials.
View on Wolters Kluwer
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
View on PubMed
...
...
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License