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
Comparing large Language models and human annotators in latent content analysis of sentiment, political leaning, emotional intensity and sarcasm. [PDF]
Bojić L+6 more
europepmc +1 more source
Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes
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
Reliability and validity of simulation-based Electrocardiogram assessment rubrics for cardiac life support skills among medical students using generalizability theory. [PDF]
Lertsakulbunlue S+2 more
europepmc +1 more source
Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD
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
Psychometric properties of the Chinese version of the M.D. Anderson symptom Inventory-Multiple Myeloma Module: a translation and validation study. [PDF]
Wang T+7 more
europepmc +1 more source
Liraglutide for idiopathic intracranial hypertension: a real‐world propensity score‐matched study
Abstract Objective Idiopathic intracranial hypertension (IIH) is a neurological disorder predominantly affecting young women with obesity, characterized by elevated intracranial pressure. While current treatments include weight loss counseling, medical therapies, and surgical interventions, their limitations necessitate exploring novel therapeutic ...
Ahmed Y. Azzam+13 more
wiley +1 more source
Power system planning and reliability. Final report
J. Peschon+4 more
openalex +2 more sources