Results 331 to 340 of about 17,462,775 (406)

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

Flow Cytometry Evaluation of Blood-Cell-Bound Surface FVIII in Hemophilia A and Thrombosis. [PDF]

open access: yesCells
Al-Mohannadi A   +16 more
europepmc   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng   +6 more
wiley   +1 more source

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