Results 211 to 220 of about 1,868,629 (331)
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao+34 more
wiley +1 more source
Long-term risk of late-life depression in widowed elderly: a five-year follow-up study. [PDF]
Li Y+7 more
europepmc +1 more source
LINC00323 variant is associated with increased risk of essential tremor
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan+11 more
wiley +1 more source
Birthplace as a capital: migratory flow, labor opportunities, and social reproduction in Brazilian men elite futsal players' careers. [PDF]
de Souza IS+4 more
europepmc +1 more source
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
Transforming education: tackling the two sigma problem with AI in journal clubs - a proof of concept. [PDF]
Umer F+4 more
europepmc +1 more source