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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Among authors: nilsson cf. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC),; International Parkinson's Disease Genomics Consortium (IPDGC),; International Genomics of Alzheimer's Project (IGAP),; Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. Ferrari R, et al. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29. J Neurol Neurosurg Psychiatry. 2017. PMID: 27899424 Free PMC article.
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium; Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP. Broce I, et al. PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan. PLoS Med. 2018. PMID: 29315334 Free PMC article.
C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
Costa B, Manzoni C, Bernal-Quiros M, Kia DA, Aguilar M, Alvarez I, Alvarez V, Andreassen O, Anfossi M, Bagnoli S, Benussi L, Bernardi L, Binetti G, Blackburn D, Boada M, Borroni B, Bowns L, Bråthen G, Bruni AC, Chiang HH, Clarimon J, Colville S, Conidi ME, Cope TE, Cruchaga C, Cupidi C, Di Battista ME, Diehl-Schmid J, Diez-Fairen M, Dols-Icardo O, Durante E, Flisar D, Frangipane F, Galimberti D, Gallo M, Gallucci M, Ghidoni R, Graff C, Grafman JH, Grossman M, Hardy J, Hernández I, Holloway GJT, Huey ED, Illán-Gala I, Karydas A, Khoshnood B, Kramberger MG, Kristiansen M, Lewis PA, Lleó A, Madhan GK, Maletta R, Maver A, Menendez-Gonzalez M, Milan G, Miller B, Mol MO, Momeni P, Moreno-Grau S, Morris CM, Nacmias B, Nilsson C, Novelli V, Öijerstedt L, Padovani A, Pal S, Panchbhaya Y, Pastor P, Peterlin B, Piaceri I, Pickering-Brown S, Pijnenburg YAL, Puca AA, Rainero I, Rendina A, Richardson AMT, Rogaeva E, Rogelj B, Rollinson S, Rossi G, Rossmeier C, Rowe JB, Rubino E, Ruiz A, Sanchez-Valle R, Sando SB, Santillo AF, Saxon J, Scarpini E, Serpente M, Smirne N, Sorbi S, Suh E, Tagliavini F, Thompson JC, Trojanowski JQ, Van Deerlin VM, Van der Zee J, Van Broeckhoven C, van Rooij J, Van Sw… See abstract for full author list ➔ Costa B, et al. Neurology. 2020 Dec 15;95(24):e3288-e3302. doi: 10.1212/WNL.0000000000010914. Epub 2020 Sep 17. Neurology. 2020. PMID: 32943482 Free PMC article.
Frontotemporal dementia and its subtypes: a genome-wide association study.
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillanti… See abstract for full author list ➔ Ferrari R, et al. Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1. Lancet Neurol. 2014. PMID: 24943344 Free PMC article.
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