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Patient-Specific iPSC-Derived Cellular Models of LGMDR1
(Elsevier, 2021-04-08)
Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain ...
Common Variants in Alzheimer’s Disease and Risk Stratification by Polygenic Risk Scores
(Springer, 2021-06-07)
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy
(Elsevier, 2021-12-03)
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ...