Results 141 to 150 of about 36,350 (272)
The importance of better natural history studies for Duchenne muscular dystrophy
Developmental Medicine &Child Neurology, EarlyView.
David J. Birnkrant
wiley +1 more source
Pharmaceutical Statistics, Volume 24, Issue 3, May/June 2025.ABSTRACT Patient enrollment can be a substantial burden in rare disease trials. One potential approach is to incorporate external control (EC) into concurrent randomized trials, or EC borrowing, to reduce such burden. Extensive research has been conducted to explore statistical methodologies.
Ping Gao, Xiao Ni, Jing Li, Rachel Chu
wiley +1 more source
Defective myoblasts identified in Duchenne muscular dystrophy. [PDF]
, 1983 Helen M. Blau +2 more
openalex +1 more source
The Pathobiology of Cerebrovascular Lesions in CADASIL Small Vessel Disease
Basic &Clinical Pharmacology &Toxicology, Volume 136, Issue 5, May 2025.ABSTRACT Cerebral small vessel disease (cSVD) is a significant global health issue, accounting for approximately 25% of ischemic strokes and 20% of all dementia cases. CADASIL, the most common monogenic form of cSVD, is caused by stereotyped mutations in the NOTCH3 receptor that alter the number of cysteine residues in its extracellular domain ...
Anne Joutel
wiley +1 more source
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. [PDF]
, 1983 Peter S. Harper +5 more
openalex +1 more source
Mimicking the Dystrophic Cardiac Extracellular Environment through DystroGel
Advanced Healthcare Materials, Volume 14, Issue 9, April 4, 2025.This research introduces DystroGel, a cutting‐edge biocompatible pathological hydrogel derived from decellularized dystrophic porcine heart tissue, suitable for tissue modeling applications. Rheological and proteomic analyses reveal structural and protein composition modifications, underscoring its unique properties.
Maila Chirivì +19 more
wiley +1 more source
Advancing Precision Medicine: Recent Innovations in Gene Editing Technologies
Advanced Science, Volume 12, Issue 14, April 10, 2025.This review article delves into the cutting‐edge advancements in gene editing technology, with a particular focus on prime editor proteins and their engineered variants. The authors provide a thorough examination of recent developments that have addressed key challenges in the field, including improved precision, enhanced editing efficiency, and ...
Abhijith Koodamvetty +1 more
wiley +1 more source
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy [PDF]
, 1989 Roland G. Roberts +4 more
openalex +1 more source
Functions and Therapeutic Potentials of Long Noncoding RNA in Skeletal Muscle Atrophy and Dystrophy
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 2, April 2025.ABSTRACT Skeletal muscle is the most abundant tissue in the human body and is responsible for movement, metabolism, energy production and longevity. Muscle atrophy is a frequent complication of several diseases and occurs when protein degradation exceeds protein synthesis.
Yidi Zhang +4 more
wiley +1 more source