Results 141 to 150 of about 1,068,790 (248)

Complete genome sequence of <i>Metarhizium marquandii</i> strain ISA501. [PDF]

open access: yesMicrobiol Resour Announc
Zhou J   +4 more
europepmc   +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

Genome sequence of <i>Mycobacterium abscessus</i> phage P3MA. [PDF]

open access: yesMicrobiol Resour Announc
Broncano-Lavado A   +9 more
europepmc   +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

Complete chloroplast genome sequence data of Cannabis sativa. [PDF]

open access: yesData Brief
Xu J, Kong L, Wu W, Li C, Ren W, Ma W.
europepmc   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte   +13 more
wiley   +1 more source

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