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
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
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
Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki+5 more
wiley +1 more source
Impact of Canterbury earthquakes on well-being in New Zealand. [PDF]
Nguyen TM, Noy I, Saglam Y.
europepmc +1 more source
What's the 'Secret Sauce'?: A Systematic Review of the Characteristics of Effective Digital Health Behaviour Change Interventions for Children and Adolescents. [PDF]
Krishna K+3 more
europepmc +1 more source
Analyzing the effect of physical exercise on social anxiety in college students using the chain mediation model. [PDF]
Zhao H, Chi Y, Shi L.
europepmc +1 more source
Understanding alcohol use around water: A qualitative analysis of the experiences of young males. [PDF]
Sas SV+4 more
europepmc +1 more source
Heuristics of social judgment, control motivation and processing of risk information
Thierry Meyer
openalex +1 more source