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Page 1
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.
Eger SJ, Le Guen Y, Khan RR, Hall JN, Kennedy G, Zaharchuk G, Couthouis J, Brooks WS, Velakoulis D, Napolioni V, Belloy ME, Dalgard CL, Mormino EC, Gitler AD, Greicius MD. Eger SJ, et al. Among authors: dalgard cl. Neurol Genet. 2021 Dec 7;8(1):e647. doi: 10.1212/NXG.0000000000000647. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901437 Free PMC article.
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P, Gunasekaran TI, Belloy ME, Reyes-Dumeyer D, Jülich D, Tayran H, Yilmaz E, Flaherty D, Turgutalp B, Sukumar G, Alba C, McGrath EM, Hupalo DN, Bacikova D, Le Guen Y, Lantigua R, Medrano M, Rivera D, Recio P, Nuriel T, Ertekin-Taner N, Teich AF, Dickson DW, Holley S, Greicius M, Dalgard CL, Zody M, Mayeux R, Kizil C, Vardarajan BN. Bhattarai P, et al. Among authors: dalgard cl. Acta Neuropathol. 2024 Apr 10;147(1):70. doi: 10.1007/s00401-024-02721-1. Acta Neuropathol. 2024. PMID: 38598053 Free PMC article.
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis.
Calvo A, Canosa A, Moglia C, Manera U, Grassano M, Vasta R, Palumbo F, Cugnasco P, Gallone S, Brunetti M, De Marchi F, Arena V, Pagani M, Dalgard C, Scholz SW, Chia R, Corrado L, Dalfonso S, Mazzini L, Traynor BJ, Chio A. Calvo A, et al. Neurol Genet. 2022 Oct 26;8(6):e200033. doi: 10.1212/NXG.0000000000200033. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36313067 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.
Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred.
Saez-Atienzar S, Dalgard CL, Ding J, Chiò A, Alba C, Hupalo DN, Wilkerson MD, Bowser R, Pioro EP, Bedlack R, Traynor BJ. Saez-Atienzar S, et al. Among authors: dalgard cl. Neurology. 2020 Dec 1;95(22):1015-1018. doi: 10.1212/WNL.0000000000011064. Epub 2020 Oct 19. Neurology. 2020. PMID: 33077544 Free PMC article. No abstract available.
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, … See abstract for full author list ➔ Chia R, et al. Among authors: dalgard cl. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: dalgard cl. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.
Banday AR, Stanifer ML, Florez-Vargas O, Onabajo OO, Papenberg BW, Zahoor MA, Mirabello L, Ring TJ, Lee CH, Albert PS, Andreakos E, Arons E, Barsh G, Biesecker LG, Boyle DL, Brahier MS, Burnett-Hartman A, Carrington M, Chang E, Choe PG, Chisholm RL, Colli LM, Dalgard CL, Dude CM, Edberg J, Erdmann N, Feigelson HS, Fonseca BA, Firestein GS, Gehring AJ, Guo C, Ho M, Holland S, Hutchinson AA, Im H, Irby L, Ison MG, Joseph NT, Kim HB, Kreitman RJ, Korf BR, Lipkin SM, Mahgoub SM, Mohammed I, Paschoalini GL, Pacheco JA, Peluso MJ, Rader DJ, Redden DT, Ritchie MD, Rosenblum B, Ross ME, Anna HPS, Savage SA, Sharma S, Siouti E, Smith AK, Triantafyllia V, Vargas JM, Vargas JD, Verma A, Vij V, Wesemann DR, Yeager M, Yu X, Zhang Y, Boulant S, Chanock SJ, Feld JJ, Prokunina-Olsson L. Banday AR, et al. Among authors: dalgard cl. Nat Genet. 2022 Aug;54(8):1103-1116. doi: 10.1038/s41588-022-01113-z. Epub 2022 Jul 14. Nat Genet. 2022. PMID: 35835913 Free PMC article.
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.
Jabbari E, Koga S, Valentino RR, Reynolds RH, Ferrari R, Tan MMX, Rowe JB, Dalgard CL, Scholz SW, Dickson DW, Warner TT, Revesz T, Höglinger GU, Ross OA, Ryten M, Hardy J, Shoai M, Morris HR; PSP Genetics Group. Jabbari E, et al. Among authors: dalgard cl. Lancet Neurol. 2021 Feb;20(2):107-116. doi: 10.1016/S1474-4422(20)30394-X. Epub 2020 Dec 17. Lancet Neurol. 2021. PMID: 33341150 Free PMC article.
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: dalgard cl. 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.
187 results