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Page 1
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Christopher EA, DeTure M, Seeley WW, Lee EB, Frosch MP, Molina-Porcel L, Gefen T, Redding-Ochoa J, Ghetti B, Robinson AC, Kobylecki C, Rowe JB, Beach TG, Teich AF, Keith JL, Bodi I, Halliday GM, Gearing M, Arzberger T, Morris CM, White CL 3rd, Mechawar N, Boluda S, MacKenzie IR, McLean C, Cykowski MD, Wang SJ, Graff C, Nagra RM, Kovacs GG, Giaccone G, Neumann M, Ang LC, Carvalho A, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA; Pick's disease International Consortium. Valentino RR, et al. Among authors: hardy ja. Lancet Neurol. 2024 May;23(5):487-499. doi: 10.1016/S1474-4422(24)00083-8. Lancet Neurol. 2024. PMID: 38631765 Free article.
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.
Taskesen E, Mishra A, van der Sluis S, Ferrari R; International FTD-Genomics Consortium; Veldink JH, van Es MA, Smit AB, Posthuma D, Pijnenburg Y. Taskesen E, et al. Sci Rep. 2018 May 14;8(1):7789. doi: 10.1038/s41598-018-21308-x. Sci Rep. 2018. PMID: 29760392 Free PMC article.
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Luo H, Gustavsson EK, Macpherson H, Dominik N, Zhelcheska K, Montgomery K, Anderson C, Yau WY, Efthymiou S, Turner C, DeTure M, Dickson DW, Josephs KA, Revesz T, Lashley T, Halliday G, Rowe DB, McCann E, Blair I, Lees AJ, Tienari PJ, Suomalainen A, Molina-Porcel L, Kovacs GG, Gelpi E, Hardy J, Haltia MJ, Tucci A, Jaunmuktane Z, Ryten M, Houlden H, Chen Z. Luo H, et al. Acta Neuropathol Commun. 2024 Jan 2;12(1):2. doi: 10.1186/s40478-023-01706-7. Acta Neuropathol Commun. 2024. PMID: 38167323 Free PMC article. No abstract available.
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 Apr;20(4):2670-2679. doi: 10.1002/alz.13718. Epub 2024 Feb 21. Alzheimers Dement. 2024. PMID: 38380866 Free PMC article.
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: hardy ja. 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.
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Alvarez Jerez P, Daida K, Miano-Burkhardt A, Iwaki H, Malik L, Cogan G, Makarious MB, Sullivan R, Vandrovcova J, Ding J, Gibbs JR, Markham A, Nalls MA, Kesharwani RK, Sedlazeck FJ, Casey B, Hardy J, Houlden H, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. NPJ Parkinsons Dis. 2024 May 24;10(1):108. doi: 10.1038/s41531-024-00723-0. NPJ Parkinsons Dis. 2024. PMID: 38789445 Free PMC article.
Investigation of the genetic aetiology of Lewy body diseases with and without dementia.
Wu LY, Real R, Martinez-Carrasco A, Chia R, Lawton MA, Shoai M, Bresner C, Blauwendraat C, Singleton AB, Ryten M; International Lewy Body Dementia Genomics Consortium; Scholz SW, Traynor BJ, Williams NM, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Wu LY, et al. Brain Commun. 2024 May 31;6(4):fcae190. doi: 10.1093/braincomms/fcae190. eCollection 2024. Brain Commun. 2024. PMID: 38978726 Free PMC article.
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Höglinger GU, Müller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH; PSP Genetics Study Group; Crary JF, Naj A. Farrell K, et al. Nat Commun. 2024 Sep 9;15(1):7880. doi: 10.1038/s41467-024-52025-x. Nat Commun. 2024. PMID: 39251599 Free PMC article.
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations.
Bandres-Ciga S, Faghri F, Majounie E, Koretsky MJ, Kim J, Levine KS, Leonard H, Makarious MB, Iwaki H, Crea PW, Hernandez DG, Arepalli S, Billingsley K, Lohmann K, Klein C, Lubbe SJ, Jabbari E, Saffie-Awad P, Narendra D, Reyes-Palomares A, Quinn JP, Schulte C, Morris HR, Traynor BJ, Scholz SW, Houlden H, Hardy J, Dumanis S, Riley E, Blauwendraat C, Singleton A, Nalls M, Jeff J, Vitale D; Global Parkinson's Genetics Program (GP2) and the Center for Alzheimer's and Related Dementias (CARD). Bandres-Ciga S, et al. Mov Disord. 2024 Nov;39(11):2039-2048. doi: 10.1002/mds.29902. Epub 2024 Sep 16. Mov Disord. 2024. PMID: 39283294
218 results