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Page 1
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.
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.
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.
Symptom-led staging for primary progressive aphasia.
Hardy CJ, Taylor-Rubin C, Taylor B, Harding E, Gonzalez AS, Jiang J, Thompson L, Kingma R, Chokesuwattanaskul A, Walker F, Barker S, Brotherhood E, Waddington C, Wood O, Zimmermann N, Kupeli N, Yong KX, Camic PM, Stott J, Marshall CR, Oxtoby NP, Rohrer JD, Volkmer A, Crutch SJ, Warren JD. Hardy CJ, et al. Among authors: rohrer jd. medRxiv [Preprint]. 2023 Mar 17:2023.03.13.23286972. doi: 10.1101/2023.03.13.23286972. medRxiv. 2023. PMID: 36993460 Free PMC article. Updated. Preprint.
The architecture of abnormal reward behaviour in dementia: multimodal hedonic phenotypes and brain substrate.
Chokesuwattanaskul A, Jiang H, Bond RL, Jimenez DA, Russell LL, Sivasathiaseelan H, Johnson JCS, Benhamou E, Agustus JL, van Leeuwen JEP, Chokesuwattanaskul P, Hardy CJD, Marshall CR, Rohrer JD, Warren JD. Chokesuwattanaskul A, et al. Among authors: rohrer jd. Brain Commun. 2023 Feb 9;5(2):fcad027. doi: 10.1093/braincomms/fcad027. eCollection 2023. Brain Commun. 2023. PMID: 36942157 Free PMC article.
'Communication is difficult': Speech, language and communication needs of people with young onset or rarer forms of non-language led dementia.
Volkmer A, Cross L, Highton L, Jackson C, Smith C, Brotherhood E, Harding EV, Mummery C, Rohrer J, Weil R, Yong K, Crutch S, Hardy CJD. Volkmer A, et al. Among authors: rohrer j. Int J Lang Commun Disord. 2024 Feb 8. doi: 10.1111/1460-6984.13018. Online ahead of print. Int J Lang Commun Disord. 2024. PMID: 38329409
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.
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.
865 results