Practice Recommendations for Genetic Testing of Ataxias
Annals 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
A vision transformer with recurrent neural network-based fall activity recognition system for disabled persons in smart IoT environments. [PDF]
Sci RepAlzahrani A, Alghamdi AM.
europepmc +1 more source
A statistical outlier methodology for observed points and lines
, 1965 Florence Gertrude Tetreault
openalex +1 more source
Annals 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
Preparing clinical research data for artificial intelligence readiness: insights from the National Institute of Diabetes and Digestive and Kidney Diseases data centric challenge. [PDF]
J Am Med Inform AssocDomagalski MJ +11 more
europepmc +1 more source
Methodological problems in the epidemiology of "deboleza".
, 1967 Marcia Cooper +3 more
openalex +2 more sources
Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities
Annals of Clinical and Translational Neurology, EarlyView.Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski +13 more
wiley +1 more source
Automated phenotyping of congenital heart disease for dynamic patient aggregation and outcome reporting. [PDF]
JAMIA OpenToba S +13 more
europepmc +1 more source
Genetic Modifiers of Parkinson's Disease: A Case–Control Study
Annals 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