Results 201 to 210 of about 495,544 (318)

Combining DNA and protein alignments to improve genome annotation with LiftOn. [PDF]

open access: yesGenome Res
Chao KH   +6 more
europepmc   +1 more source

Practice Recommendations for Genetic Testing of Ataxias

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan   +7 more
wiley   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik   +15 more
wiley   +1 more source

Exploring Nasal Structural‐Microbial Interactions in Multiple Sclerosis‐Associated Olfactory Impairment

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Olfactory dysfunction is frequently observed in patients with multiple sclerosis (MS); however, its underlying mechanisms remain poorly understood. To date, no studies have directly examined the nasal mucosal microbiota in MS. This study aimed to explore potential relationships among olfactory function, nasal microbiota composition,
Zidan Gao   +5 more
wiley   +1 more source

Isolation and genome annotation of Rowlf, a novel cluster EG bacteriophage with a purple acid phosphatase-like gene. [PDF]

open access: yesMicrobiol Resour Announc
Sullivan E   +19 more
europepmc   +1 more source

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