Results 211 to 220 of about 2,869,706 (297)

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

A chromosome-level reference genome assembly of the Small snakehead (Channa asiatica). [PDF]

open access: yesSci Data
Liu H   +9 more
europepmc   +1 more source

Genome engineering using the CRISPR-Cas9 system

open access: yesNature Protocols, 2013
F. Ran   +6 more
semanticscholar   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

Detection by complementation of defective or uninducible (herpes simplex type 1) virus genomes latent in human ganglia. [PDF]

open access: green, 1979
Stuart M. Brown   +4 more
openalex   +1 more source

Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Observation studies suggest that coffee consumption may lower the risk and delay the age‐at‐onset (AAO) of Parkinson's disease (PD). The aim of this study was to explore the causal relationship and genetic association between coffee consumption and the AAO, risk, and progression of PD. Using Mendelian randomization, we identified a significant
Dariia Kuzovenkova   +3 more
wiley   +1 more source

A chromosome-level genome assembly and annotation of Cercis chuniana (Fabaceae). [PDF]

open access: yesSci Data
Gong W   +8 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy