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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW; Genomic England Research Consortium; Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Brain. 2024 Jun 17:awae193. doi: 10.1093/brain/awae193. Online ahead of print. Brain. 2024. PMID: 38884572
Predicting the onset of Alzheimer's disease and related dementia using Electronic Health Records: Findings from the Cache County Study on Memory in Aging (1995-2008).
Schliep KC, Thornhill J, Tschanz J, Facelli JC, Østbye T, Sorweid MK, Smith KR, Varner M, Boyce RD, Brown CJC, Meeks H, Abdelrahman S. Schliep KC, et al. Among authors: smith kr. Res Sq [Preprint]. 2024 Jun 7:rs.3.rs-4414498. doi: 10.21203/rs.3.rs-4414498/v1. Res Sq. 2024. PMID: 38883755 Free PMC article. Preprint.
Observational methods for human studies of transgenerational effects.
Richards-Steed R, Wan N, Bakian A, Medina RM, Brewer SC, Smith KR, VanDerslice JA. Richards-Steed R, et al. Among authors: smith kr. Epigenetics. 2024 Dec;19(1):2366065. doi: 10.1080/15592294.2024.2366065. Epub 2024 Jun 13. Epigenetics. 2024. PMID: 38870389 Free PMC article.
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.
Zhao Y, Chukanova M, Kentistou KA, Fairhurst-Hunter Z, Siegert AM, Jia RY, Dowsett GKC, Gardner EJ, Lawler K, Day FR, Kaisinger LR, Tung YL, Lam BYH, Chen HC, Wang Q, Berumen-Campos J, Kuri-Morales P, Tapia-Conyer R, Alegre-Diaz J, Barroso I, Emberson J, Torres JM, Collins R, Saleheen D, Smith KR, Paul DS, Merkle F, Farooqi IS, Wareham NJ, Petrovski S, O'Rahilly S, Ong KK, Yeo GSH, Perry JRB. Zhao Y, et al. Among authors: smith kr. Nat Genet. 2024 Apr;56(4):579-584. doi: 10.1038/s41588-024-01694-x. Epub 2024 Apr 4. Nat Genet. 2024. PMID: 38575728 Free PMC article.
865 results