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Page 1
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: buratti e. Neurobiol Dis. 2023 Apr;179:106068. doi: 10.1016/j.nbd.2023.106068. Epub 2023 Mar 8. Neurobiol Dis. 2023. PMID: 36898614 Free 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. 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.
Altered plasma protein profiles in genetic FTD - a GENFI study.
Ullgren A, Öijerstedt L, Olofsson J, Bergström S, Remnestål J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tirabosch P, Santana I, Ducharme S, Butler CR, Gerhard A, Otto M, Bouzigues A, Russell L, Swift IJ, Sogorb-Esteve A, Heller C, Rohrer JD, Månberg A, Nilsson P, Graff C; Genetic Frontotemporal Dementia Initiative (GENFI). Ullgren A, et al. Mol Neurodegener. 2023 Nov 15;18(1):85. doi: 10.1186/s13024-023-00677-6. Mol Neurodegener. 2023. PMID: 37968725 Free PMC article.
Detection of TDP-43 seeding activity in the olfactory mucosa from patients with frontotemporal dementia.
Fontana E, Bongianni M, Benussi A, Bronzato E, Scialo C, Sacchetto L, Cagnin A, Castriciano S, Buratti E, Gardoni F, Italia M, Schreiber A, Ferracin C, Fiorini M, Newell KL, Cracco L, Garringer HJ, Cecchini MP, Polymenidou M, Padovani A, Monaco S, Legname G, Ghetti B, Borroni B, Zanusso G. Fontana E, et al. Among authors: buratti e. Alzheimers Dement. 2024 Feb;20(2):1156-1165. doi: 10.1002/alz.13541. Epub 2023 Oct 31. Alzheimers Dement. 2024. PMID: 37908186 Free PMC article.
Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Sanoguera-Miralles L, Llinares-Burguet I, Bueno-Martínez E, Ramadane-Morchadi L, Stuani C, Valenzuela-Palomo A, García-Álvarez A, Pérez-Segura P, Buratti E, de la Hoya M, Velasco-Sampedro EA. Sanoguera-Miralles L, et al. Among authors: buratti e. J Pathol. 2024 Apr;262(4):395-409. doi: 10.1002/path.6243. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332730
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. 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.
252 results