Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. [PDF]
Politano L, Santorelli FM.
europepmc +1 more source
Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families. [PDF]
Soltani N+9 more
europepmc +1 more source
PAX7, a Key for Myogenesis Modulation in Muscular Dystrophies through Multiple Signaling Pathways: A Systematic Review. [PDF]
Rahman NIA+6 more
europepmc +1 more source
Engineered pulmonary artery tissues for measuring contractility, drug testing and disease modelling
Abstract Background and Purpose Vasoreactivity of pulmonary arteries regulates blood flow through the lungs. Excessive constriction of these vessels contributes to pulmonary arterial hypertension (PAH), a progressive and incurable condition, resulting in right heart failure.
Adam L. Fellows+8 more
wiley +1 more source
Prevalence of Duchenne and Becker Muscular Dystrophies in the United States
P. Romitti+18 more
semanticscholar +1 more source
TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant. [PDF]
Õunap K+7 more
europepmc +1 more source
Sphingolipids mediate lipotoxicity in muscular dystrophies. [PDF]
Wang Y, Shyh-Chang N.
europepmc +1 more source
Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge+10 more
wiley +1 more source
THE METABOLISM OF CREATINE-1-C14 BY MICE WITH HEREDITARY MUSCULAR DYSTROPHY* [PDF]
Coy D. Fitch+2 more
openalex +1 more source