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Page 1
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Among authors: ber il. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
Cognitive inhibition impairments in presymptomatic C9orf72 carriers.
Montembeault M, Sayah S, Rinaldi D, Le Toullec B, Bertrand A, Funkiewiez A, Saracino D, Camuzat A, Couratier P, Chouly M, Hannequin D, Aubier-Girard C, Pasquier F, Delbeuck X, Colliot O, Batrancourt B, Azuar C, Lévy R, Dubois B, Le Ber I, Migliaccio R; PrevDemAls study group. Montembeault M, et al. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):366-372. doi: 10.1136/jnnp-2019-322242. Epub 2020 Feb 13. J Neurol Neurosurg Psychiatry. 2020. PMID: 32054668
Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study.
Poos JM, Russell LL, Peakman G, Bocchetta M, Greaves CV, Jiskoot LC, van der Ende EL, Seelaar H, Papma JM, van den Berg E, Pijnenburg YAL, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Medonça A, Tagliavini F, Butler CR, Santana I, Ber IL, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Sorbi S, Pasquier F, van Swieten JC, Rohrer JD; Genetic FTD Initiative, GENF. Poos JM, et al. Among authors: ber il. Alzheimers Dement (Amst). 2021 May 13;13(1):e12185. doi: 10.1002/dad2.12185. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 34027016 Free PMC article.
Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia.
Gazzina S, Grassi M, Premi E, Alberici A, Benussi A, Archetti S, Gasparotti R, Bocchetta M, Cash DM, Todd EG, Peakman G, Convery RS, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Moreno F, Laforce R Jr, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Gazzina S, et al. Among authors: ber il. Neurobiol Aging. 2022 Jun;114:94-104. doi: 10.1016/j.neurobiolaging.2022.02.009. Epub 2022 Feb 26. Neurobiol Aging. 2022. PMID: 35339292
CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia.
Woollacott IOC, Swift IJ, Sogorb-Esteve A, Heller C, Knowles K, Bouzigues A, Russell LL, Peakman G, Greaves CV, Convery R, Heslegrave A, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Tartaglia MC, Finger E, van Swieten JC, Seelaar H, Jiskoot L, Sorbi S, Butler CR, Graff C, Gerhard A, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Ber IL, Levin J, Otto M, Pasquier F, Santana I, Zetterberg H, Rohrer JD; Genetic FTD Initiative, GENFI. Woollacott IOC, et al. Among authors: ber il. Ann Clin Transl Neurol. 2022 Nov;9(11):1764-1777. doi: 10.1002/acn3.51672. Epub 2022 Oct 17. Ann Clin Transl Neurol. 2022. PMID: 36245297 Free PMC article.
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
Linnemann C, Wilke C, Mengel D, Zetterberg H, Heller C, Kuhle J, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Van Swieten JC, Jiskoot LC, Seelaar H, Moreno F, Borroni B, Sánchez-Valle R, Galimberti D, Laforce R Jr, Graff C, Masellis M, Tartaglia MC, Rowe JB, Finger E, Vandenberghe R, de Mendonca A, Butler CR, Gerhard A, Ducharme S, Ber ILE, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Synofzik M; GENFI. Linnemann C, et al. Among authors: ber ile. J Neurol Neurosurg Psychiatry. 2024 Feb 1:jnnp-2023-332464. doi: 10.1136/jnnp-2023-332464. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38253362 Free article.
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Samra K, Peakman G, MacDougall AM, Bouzigues A, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, 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, Ber IL, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL;  Genetic FTD Initiative (GENFI). Samra K, et al. Among authors: ber il. Alzheimers Dement (Amst). 2024 Apr 14;16(2):e12571. doi: 10.1002/dad2.12571. eCollection 2024 Apr-Jun. Alzheimers Dement (Amst). 2024. PMID: 38623386 Free PMC article.
Corrigendum to "Dissemination in time and space in presymptomatic granulin mutation carriers: A spatial chronnectome study" [Neurobiology of Aging Volume 108, December 2021, Pages 155-167].
Premi E, Giunta M, Iraji A, Rachakonda S, Calhoun V, Gazzina S, Benussi A, Gasparotti R, Archetti S, Bocchetta M, Cash D, Todd E, Peakman G, Convery R, van Swieten JC, Jiskoot L, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe J, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Premi E, et al. Among authors: ber il. Neurobiol Aging. 2022 Nov;119:140-144. doi: 10.1016/j.neurobiolaging.2022.08.005. Epub 2022 Sep 2. Neurobiol Aging. 2022. PMID: 36064515 No abstract available.
Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia.
Whiteside DJ, Malpetti M, Jones PS, Ghosh BCP, Coyle-Gilchrist I, van Swieten JC, Seelaar H, Jiskoot L, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Ber IL, Gerhard A, Ducharme S, Levin J, Danek A, Otto M, Sorbi S, Pasquier F, Bouzigues A, Russell LL, Rohrer JD, Rowe JB, Rittman T; GENFI consortium. Whiteside DJ, et al. Among authors: ber il. Alzheimers Dement. 2023 May;19(5):1947-1962. doi: 10.1002/alz.12824. Epub 2022 Nov 15. Alzheimers Dement. 2023. PMID: 36377606 Free PMC article.
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