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
Locally adapted guidelines: a scoping review. [PDF]
Pieper D+7 more
europepmc +1 more source
Variable stars in local group galaxies. I - M33
T. D. Kinman, J. R. Mould, P. R. Wood
openalex +1 more source
Papers from ringing group and local bird reports [PDF]
C.J.R. Thorne+2 more
openalex +1 more source
Abstract Objectives An increasing body of evidence indicates altered DNA methylation in Parkinson's disease, yet the reproducibility and utility of such methylation changes are largely unexplored. We aimed to further elucidate the role of dysregulated DNA methylation in Parkinson's disease and to evaluate the biomarker potential of methylation‐based ...
Ingeborg Haugesag Lie+4 more
wiley +1 more source
Digital solution for salutogenic brain health: a pilot sequential multiple assignment randomised trial (SMART) protocol for clinical implementation. [PDF]
Chang CSY+11 more
europepmc +1 more source
Koch’s classification of the primitive representations of a Galois group of a local field [PDF]
Moshe Jarden
openalex +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
Telehealth and Collaboratively Delivered Dialectical Behaviour Therapy: An Opportunity for Increasing Access to Effective Treatment for People With Borderline Personality Disorder Living in Rural Areas. [PDF]
Walton CJ+3 more
europepmc +1 more source
interruptions adversely affect local control and survival with hyperfractionated radiation therapy of carcinomas of the upper respiratory and digestive tracts new evidence for accelerated proliferation from radiation therapy oncology group protocol 8313 [PDF]
James D. Cox+10 more
openalex +1 more source