Accès ouvert
2026
article
OpenAlex
Z. Landoulsi, A. A.K. Sreelatha, Kuznetsov N., C. Schulte et autres
We investigated the role of copy number variations (CNVs) in Parkinson’s disease (PD) using genotyping data from 10,815 patients (2731 early-onset PD, EOPD) and 8901 controls from the COURAGE-PD consortium. CNVs were analyzed using a sliding window genome-wide association and burden approach. …
Accès ouvert
2024
article
OpenAlex
R. Maroofian, M. Zamani, Kaiyrzhanov R, L. Liebmann et autres
Purpose: SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na + -dependent HCO 3 -import, thus mediating net acid extrusion.Slc4a10 knockout mice show collapsed brain ventricles, an increased seizure threshold, mild behavioral abnormalities, impaired vision, and deafness.Methods: Utilizing exome/genome sequencing in families …
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