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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR. Kushnir A, et al. Acta Neuropathol. 2020 Jun;139(6):1089-1104. doi: 10.1007/s00401-020-02150-w. Epub 2020 Mar 31. Acta Neuropathol. 2020. PMID: 32236737 Free PMC article.
Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls TT, Andersen SL, Zmuda JM, Thyagarajan B, Yashin A, Wojczynski MK, Krinsky-McHale S, Handen BL, Christian BT, Head E, Mapstone ME, Schupf N, Lee JH, Barral S; Long-Life Family Study (LLFS); Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS). Xicota L, et al. Alzheimers Dement. 2024 Feb 21. doi: 10.1002/alz.13718. Online ahead of print. Alzheimers Dement. 2024. PMID: 38380866
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.
Casillan A, Florido ME, Galarza-Cornejo J, Bakken S, Lynch JA, Chung WK, Mittendorf KF, Berner ES, Connolly JJ, Weng C, Holm IA, Khan A, Kiryluk K, Limdi NA, Petukhova L, Sabatello M, Wynn J. Casillan A, et al. J Am Med Inform Assoc. 2024 Jan 18;31(2):306-316. doi: 10.1093/jamia/ocad207. J Am Med Inform Assoc. 2024. PMID: 37860921