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Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M, Akçimen F, Grant SM, Akerman SC, Lee PS, Faghri F, Leonard H, Kim JJ, Makarious MB, Koretsky MJ, Rothstein JD, Blauwendraat C, Nalls MA, Singleton A, Bandres-Ciga S. Khani M, et al. Among authors: akcimen f. medRxiv [Preprint]. 2024 Nov 17:2024.11.03.24313587. doi: 10.1101/2024.11.03.24313587. medRxiv. 2024. PMID: 39606324 Free PMC article. Preprint.
The Black and African American Connections to Parkinson's Disease (BLAAC PD) study protocol.
Chahine LM, Louie N, Solle J, Akçimen F, Ameri A, Augenbraun S, Avripas S, Breaux S, Causey C, Chandra S, Dean M, Disbrow EA, Fanty L, Fernandez J, Foster ER, Furr Stimming E, Hall D, Hinson V, Johnson-Turbes A, Jonas C, Kilbane C, Norris SA, Nguyen BT, Padmanaban M, Paquette K, Parry C, Pessoa Rocha N, Rawls A, Shamim EA, Shulman LM, Sipma R, Staisch J, Traurig R, von Coelln R, Wild Crea P, Xie T, Fang ZH, O'Grady A, Kopil CM, McGuire Kuhl M, Singleton A, Blauwendraat C, Bandres-Ciga S; BLAAC PD Study and the Global Parkinson’s Genetics Program (GP2). Chahine LM, et al. Among authors: akcimen f. BMC Neurol. 2024 Oct 21;24(1):403. doi: 10.1186/s12883-024-03914-7. BMC Neurol. 2024. PMID: 39434044 Free PMC article.
Increased burden of rare risk variants across gene expression networks predisposes to sporadic Parkinson's disease.
Eubanks E, VanderSleen K, Mody J, Patel N, Sacks B, Farahani MD, Wang J, Elliott J, Jaber N, Akçimen F, Bandres-Ciga S, Helweh F, Liu J, Archakam S, Kimelman R, Sharma B, Socha P, Guntur A, Bartels T, Dettmer U, Mouradian MM, Bahrami AH, Dai W, Baum J, Shi Z, Hardy J, Kara E. Eubanks E, et al. Among authors: akcimen f. bioRxiv [Preprint]. 2024 Sep 1:2024.08.30.610195. doi: 10.1101/2024.08.30.610195. bioRxiv. 2024. PMID: 39257816 Free PMC article. Preprint.
Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.
Akçimen F, Chia R, Saez-Atienzar S, Ruffo P, Rasheed M, Ross JP, Liao C, Ray A, Dion PA, Scholz SW, Rouleau GA, Traynor BJ. Akçimen F, et al. Ann Neurol. 2024 Nov;96(5):994-1005. doi: 10.1002/ana.27040. Epub 2024 Jul 30. Ann Neurol. 2024. PMID: 39078117
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marín-Lahoz J, Kulisevsky J, Torres S, Mir P, Periñán MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sánchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chiò A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW. Chia R, et al. Among authors: akcimen f. Neuron. 2024 Jul 3;112(13):2142-2156.e5. doi: 10.1016/j.neuron.2024.04.002. Epub 2024 May 2. Neuron. 2024. PMID: 38701790 Free article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: akcimen f. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
41 results