Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Genome-wide association study reveals candidate genes associated with key egg production traits in Langya chickens. [PDF]
Zhang H +6 more
europepmc +1 more source
TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara +18 more
wiley +1 more source
Genome-wide association study to identification of candidate genes influencing key seed traits in Perilla frutescens. [PDF]
Kim MS +10 more
europepmc +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Genome-wide association study and genome prediction of tallness trait in spinach phenotyping. [PDF]
Alatawi I +10 more
europepmc +1 more source
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla +13 more
wiley +1 more source
Genome-wide association study identifies quantitative trait loci associated with resistance to Verticillium dahliae race 3 in tomato. [PDF]
Adhikari TB +8 more
europepmc +1 more source
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink +3 more
wiley +1 more source

