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Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Among authors: d alfonso s. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Chiò A, Moglia C, Canosa A, Manera U, Grassano M, Vasta R, Palumbo F, Gallone S, Brunetti M, Barberis M, De Marchi F, Dalgard C, Chia R, Mora G, Iazzolino B, Peotta L, Traynor BJ, Corrado L, D'Alfonso S, Mazzini L, Calvo A. Chiò A, et al. Neurology. 2023 Jul 4;101(1):e83-e93. doi: 10.1212/WNL.0000000000207367. Epub 2023 May 18. Neurology. 2023. PMID: 37202167 Free PMC article.
A case of early-onset Parkinson's disease in a patient with KBG syndrome.
Magistrelli L, Contaldi E, Caushi F, Spano A, Cantello R, D'Alfonso S, Corrado L. Magistrelli L, et al. Among authors: d alfonso s. Neurol Sci. 2023 Dec;44(12):4537-4539. doi: 10.1007/s10072-023-06988-2. Epub 2023 Aug 4. Neurol Sci. 2023. PMID: 37540342 No abstract available.
BRAT1 Mutation Retrospective Diagnosis: A Case Report.
Vercellino F, Valerio M, Dusio MP, Spano A, D'Alfonso S. Vercellino F, et al. Cureus. 2023 Mar 1;15(3):e35655. doi: 10.7759/cureus.35655. eCollection 2023 Mar. Cureus. 2023. PMID: 37009381 Free PMC article.
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms.
Lincoln MR, Connally N, Axisa PP, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S, Jonkers IH, Padyukov L; International Multiple Sclerosis Genetics Consortium; Rich SS, Graham RR, Gaffney PM, Langefeld CD, Vyse TJ, Hafler DA, Chun S, Sunyaev SR, Cotsapas C. Lincoln MR, et al. Nat Genet. 2024 May;56(5):838-845. doi: 10.1038/s41588-024-01732-8. Epub 2024 May 13. Nat Genet. 2024. PMID: 38741015
281 results