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Page 1
Creating the Pick's disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick's disease.
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, Warner TT, Jaunmuktane Z, Boeve BF, Christopher EA, DeTure M, Duara R, Graff-Radford NR, Josephs KA, Knopman DS, Koga S, Murray ME, Lyons KE, Pahwa R, Parisi JE, Petersen RC, Whitwell J, Grinberg LT, Miller B, Schlereth A, Seeley WW, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Trojanowski JQ, Van Deerlin VM, Wolk DA, Connors TR, Dooley PM, Frosch MP, Oakley DH, Aldecoa I, Balasa M, Gelpi E, Borrego-Écija S, de Eugenio Huélamo RM, Gascon-Bayarri J, Sánchez-Valle R, Sanz-Cartagena P, Piñol-Ripoll G, Molina-Porcel L, Bigio EH, Flanagan ME, Gefen T, Rogalski EJ, Weintraub S, Redding-Ochoa J, Chang K, Troncoso JC, Prokop S, Newell KL, Ghetti B, Jones M, Richardson A, Robinson AC, Roncaroli F, Snowden J, Allinson K, Green O, Rowe JB, Singh P, Beach TG, Serrano GE, Flowers XE, Goldman JE, Heaps AC, Leskinen SP, Teich AF, Black SE, Keith JL, Masellis M, Bodi I, King A, Sarraj SA, Troakes C, Halliday GM, Hodges JR, Kril JJ, Kwok JB, Piguet O, Gearing M, Arzberger T, Roeber S, Attems J, Morris CM, Thomas AJ, Ever… See abstract for full author list ➔ Valentino RR, et al. Among authors: rohrer jd. medRxiv [Preprint]. 2023 Apr 24:2023.04.17.23288471. doi: 10.1101/2023.04.17.23288471. medRxiv. 2023. PMID: 37163045 Free PMC article. Updated. Preprint.
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC). Zhang M, et al. Among authors: rohrer jd. Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238. Brain. 2018. PMID: 30252044 Free PMC article.
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
Pérez-Millan A, Borrego-Écija S, van Swieten JC, Jiskoot L, Moreno F, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Tiraboschi P, Seelaar H, Langheinrich T, Rohrer JD, Sala-Llonch R, Sánchez-Valle R; Genetic FTD Initiative, GENFI. Pérez-Millan A, et al. Among authors: rohrer jd. J Neurol. 2023 Mar;270(3):1573-1586. doi: 10.1007/s00415-022-11435-x. Epub 2022 Nov 29. J Neurol. 2023. PMID: 36443488 Free article.
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.
Jiskoot LC, Russell LL, Peakman G, Convery RS, Greaves CV, Bocchetta M, Poos JM, Seelaar H, Giannini LAA, van Swieten JC, van Minkelen R, Pijnenburg YAL, Rowe JB, Borroni B, Galimberti D, Masellis M, Tartaglia C, Finger E, Butler CR, Graff C, Laforce R Jr, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, le Ber I, Levin J, Otto M, Pasquier F, Santana I, Cash DM, Thomas D, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI). Jiskoot LC, et al. Among authors: rohrer jd. J Neurol Sci. 2023 Mar 15;446:120590. doi: 10.1016/j.jns.2023.120590. Epub 2023 Feb 16. J Neurol Sci. 2023. PMID: 36812822 Free article.
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study.
Premi E, Pengo M, Mattioli I, Cantoni V, Dukart J, Gasparotti R, Buratti E, Padovani A, Bocchetta M, Todd EG, Bouzigues A, Cash DM, Convery RS, Russell LL, Foster P, Thomas DL, van Swieten JC, Jiskoot LC, Seelaar H, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Tsvetanov KA, Vandenberghe R, Finger E, Tiraboschi P, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Premi E, et al. Among authors: rohrer jd. Neurobiol Dis. 2023 Apr;179:106068. doi: 10.1016/j.nbd.2023.106068. Epub 2023 Mar 8. Neurobiol Dis. 2023. PMID: 36898614 Free article.
MAPT-Associated Familial Progressive Supranuclear Palsy with Typical Corticobasal Degeneration Neuropathology: A Clinicopathological Report.
Cullinane PW, Fumi R, Theilmann Jensen M, Jabbari E, Warner TT, Revesz T, Morris HR, Rohrer JD, Jaunmuktane Z. Cullinane PW, et al. Among authors: rohrer jd. Mov Disord Clin Pract. 2023 Mar 11;10(4):691-694. doi: 10.1002/mdc3.13706. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070039 Free PMC article. No abstract available.
Identifying and Diagnosing TDP-43 Neurodegenerative Diseases in Psychiatry.
Ducharme S, Pijnenburg Y, Rohrer JD, Huey E, Finger E, Tatton N. Ducharme S, et al. Among authors: rohrer jd. Am J Geriatr Psychiatry. 2024 Jan;32(1):98-113. doi: 10.1016/j.jagp.2023.08.017. Epub 2023 Sep 3. Am J Geriatr Psychiatry. 2024. PMID: 37741764 Free article. Review.
Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results.
Sevigny J, Uspenskaya O, Heckman LD, Wong LC, Hatch DA, Tewari A, Vandenberghe R, Irwin DJ, Saracino D, Le Ber I, Ahmed R, Rohrer JD, Boxer AL, Boland S, Sheehan P, Brandes A, Burstein SR, Shykind BM, Kamalakaran S, Daniels CW, David Litwack E, Mahoney E, Velaga J, McNamara I, Sondergaard P, Sajjad SA, Kobayashi YM, Abeliovich A, Hefti F. Sevigny J, et al. Among authors: rohrer jd. Nat Med. 2024 May;30(5):1406-1415. doi: 10.1038/s41591-024-02973-0. Epub 2024 May 14. Nat Med. 2024. PMID: 38745011 Free PMC article. Clinical Trial.
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Kelmer Sacramento E, Shah SI, Nalls MA, Colon-Mercado J, Reyes JF, Ryan VH, Nelson MP, Cook C, Li Z, Screven L, Kwan JY, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff N, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Rohrer J, Malaspina A, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: rohrer j. bioRxiv [Preprint]. 2023 Jan 23:2023.01.23.525149. doi: 10.1101/2023.01.23.525149. bioRxiv. 2023. PMID: 36747793 Free PMC article. Updated. Preprint.
Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease.
Mok TH, Nihat A, Majbour N, Sequeira D, Holm-Mercer L, Coysh T, Darwent L, Batchelor M, Groveman BR, Orr CD, Hughson AG, Heslegrave A, Laban R, Veleva E, Paterson RW, Keshavan A, Schott JM, Swift IJ, Heller C, Rohrer JD, Gerhard A, Butler C, Rowe JB, Masellis M, Chapman M, Lunn MP, Bieschke J, Jackson GS, Zetterberg H, Caughey B, Rudge P, Collinge J, Mead S. Mok TH, et al. Among authors: rohrer jd. Brain. 2023 Jun 1;146(6):2570-2583. doi: 10.1093/brain/awad101. Brain. 2023. PMID: 36975162 Free PMC article.
354 results