Results 201 to 210 of about 523,896 (324)
Practice Recommendations for Genetic Testing of Ataxias
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
Genomic‐Enabled Prediction Based on Molecular Markers and Pedigree Using the Bayesian Linear Regression Package in R [PDF]
Paulino Pérez‐Rodríguez+3 more
openalex +1 more source
Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities
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
Improving genomic prediction for plant disease using environmental covariates. [PDF]
Brault C+8 more
europepmc +1 more source
Genomic breeding value prediction using three Bayesian methods and application to reduced density marker panels [PDF]
Matthew A. Cleveland+3 more
openalex +1 more source
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu+5 more
wiley +1 more source
Improving Genomic Prediction Using High-Dimensional Secondary Phenotypes: The Genetic Latent Factor Approach. [PDF]
Melsen KAC+6 more
europepmc +1 more source
The Diverse Neuromuscular Spectrum of VPS13A Disease
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger+16 more
wiley +1 more source