Results 191 to 200 of about 50,154 (270)

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang   +16 more
wiley   +1 more source

Exploring the Intersection of Hegemonic Masculinity, Sexuality, and Addiction in Men: A Qualitative Study. [PDF]

open access: yesHealthcare (Basel)
Camacho-Ruiz JA   +3 more
europepmc   +1 more source

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez   +15 more
wiley   +1 more source

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