Results 201 to 210 of about 523,896 (324)

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, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Genomic‐Enabled Prediction Based on Molecular Markers and Pedigree Using the Bayesian Linear Regression Package in R [PDF]

, 2010
Paulino Pérez‐Rodríguez, Gustavo de los Campos, José Crossa, Daniel Gianola   +3 more
openalex   +1 more source

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, Freddy Chafota, Fangyuan Cao, Amanda Wei Yin Lim, Victor Flores‐Ocampo, Santiago Díaz‐Torres, Zuriel Ceja, Luis M. García‐Marín, Scott F. Farrell, Kishore R. Kumar, Jane Alty, George D. Mellick, Trung Thành Ngô, Miguel E. Rentería   +13 more
wiley   +1 more source

Improving genomic prediction for plant disease using environmental covariates. [PDF]

Plant Methods
Brault C, Conley EJ, Read AC, Green AJ, Glover KD, Cook JP, Gill HS, Fiedler JD, Anderson JA.   +8 more
europepmc   +1 more source

2P432 A novel statistical prediction method for multiple protein-protein interaction interfaces(48. Bioinformatics, genomics and proteomics (II),Poster Session,Abstract,Meeting Program of EABS & BSJ 2006)

, 2006
Wataru Nemoto, Hiroyuki Toh
openalex   +2 more sources

Genomic breeding value prediction using three Bayesian methods and application to reduced density marker panels [PDF]

, 2010
Matthew A. Cleveland, Selma Forni, N. Deeb, Christian Maltecca   +3 more
openalex   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
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, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Improving Genomic Prediction Using High-Dimensional Secondary Phenotypes: The Genetic Latent Factor Approach. [PDF]

Biom J
Melsen KAC, Kunst JF, Crossa J, Krause MR, van Eeuwijk FA, Kruijer W, Peeters CFW.   +6 more
europepmc   +1 more source

1P472 Domain linker prediction using a Support Vector Machine(SVM)(23. Bioinformatics, genomics and proteomics (I),Poster Session,Abstract,Meeting Program of EABS &BSJ 2006)

, 2006
Teppei Ebina, Takao Arai, Hiroyuki Toh, Yutaka Kuroda   +3 more
openalex   +2 more sources

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
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, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source