This study examines the relationship between white matter hyperintensities, cortical thickness, and empathy in neurodegenerative and cerebrovascular diseases, finding associations with specific brain regions and demographic factors.

GeroScience · Mar 16, 2022Peer-reviewedNeuroscience

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Martin Chancellor, Phillip D. Cremer, Martin Bruce Delatycki, , Paul J. Lockhart

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.

The American Journal of Human Genetics · Jun 20, 2019Peer-reviewedGenetics

Genome-wide association study of Parkinsons disease progression biomarkers in 12 longitudinal patients cohorts

Hirotaka Iwaki, Cornelis Blauwendraat, Hampton L. Leonard, Jonggeol Jeffrey Kim, Ganqiang Liu, Jodi Maple‐Grødem, Jean‐Christophe Corvol, Lasse Pihlstrøm, Marlies van Nimwegen, Samantha J. Hutten, H. Nguyen Khanh-Dung, Jacqueline H. Rick, Shirley W. Eberly, Faraz Faghri, Peggy Auinger, , Mike A. Nalls

This study identifies two genome-wide significant variants associated with Parkinson's disease progression and replicates known risk variants' effects on motor and cognitive decline.

bioRxiv · Mar 27, 2019 · PreprintGenetics