Mitochondrial genome variations are associated with amyotrophic lateral sclerosis in patients from mainland China
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neurology"
DOI: 10.1007/s00415-021-10659-7
Abstract: Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder. Mitochondrial dysfunction is involved in the complex pathophysiology of ALS; however, the role of mitochondrial DNA (mtDNA) variants in ALS is poorly understood. We aimed to… read more here.
Keywords: patients mainland; nonsynonymous variants; amyotrophic lateral; als patients ... See more keywords
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2020.06.009
Abstract: Applying exome sequencing to populations with unique genetic architecture has the potential to reveal novel genes and variants associated with traits and diseases. We sequenced and analyzed the exomes of 6,716 individuals from a Southwestern… read more here.
Keywords: characterization exome; impact; nonsynonymous variants; plof nonsynonymous ... See more keywords