Results 231 to 240 of about 5,278,373 (369)

10 Years of GWAS Discovery: Biology, Function, and Translation.

open access: yesAmerican Journal of Human Genetics, 2017
P. Visscher   +6 more
semanticscholar   +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

Cognitive Impairment in Multiple Sclerosis: The Role of Clinical and Sociodemographic Factors ‐ A Systematic Review and Meta‐Analysis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment (CI) affects the quality of life in multiple sclerosis (MS). Identifying influencing factors is key to improving CI monitoring. This systematic review and meta‐analysis examines clinical and sociodemographic variables impacting the cognitive screening Symbol Digit Modalities Test (SDMT) performance across MS ...
Katalin Lugosi   +8 more
wiley   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han   +9 more
wiley   +1 more source

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