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Page 1
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sánchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gómez-Tortosa E, Agüero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Bråthen G, Sando SB, Grøntvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gómez-Núñez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Durães J, Lima M, Tábuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleó A, Fortea J, Alcolea D, Illán-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. Swift IJ, et al. Among authors: synofzik m. Alzheimers Res Ther. 2024 Mar 28;16(1):66. doi: 10.1186/s13195-024-01420-z. Alzheimers Res Ther. 2024. PMID: 38539243 Free PMC article.
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, <… See abstract for full author list ➔ van der Zee J, et al. Among authors: synofzik m. Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4. Hum Mutat. 2013. PMID: 23111906 Free PMC article.
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: synofzik m. 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.
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
Samra K, MacDougall AM, Peakman G, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia C, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, 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: synofzik m. J Neurol. 2023 Mar;270(3):1466-1477. doi: 10.1007/s00415-022-11442-y. Epub 2022 Nov 17. J Neurol. 2023. PMID: 36385202 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: synofzik m. 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.
Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia.
Bussy A, Levy JP, Best T, Patel R, Cupo L, Van Langenhove T, Nielsen JE, Pijnenburg Y, Waldö ML, Remes AM, Schroeter ML, Santana I, Pasquier F, Otto M, Danek A, Levin J, Le Ber I, Vandenberghe R, Synofzik M, Moreno F, de Mendonça A, Sanchez-Valle R, Laforce R, Langheinrich T, Gerhard A, Graff C, Butler CR, Sorbi S, Jiskoot L, Seelaar H, van Swieten JC, Finger E, Tartaglia MC, Masellis M, Tiraboschi P, Galimberti D, Borroni B, Rowe JB, Bocchetta M, Rohrer JD, Devenyi GA, Chakravarty MM, Ducharme S; GENetic Frontotemporal dementia Initiative (GENFI). Bussy A, et al. Among authors: synofzik m. Hum Brain Mapp. 2023 May;44(7):2684-2700. doi: 10.1002/hbm.26220. Epub 2023 Mar 9. Hum Brain Mapp. 2023. PMID: 36895129 Free PMC 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: synofzik m. Neurobiol Dis. 2023 Apr;179:106068. doi: 10.1016/j.nbd.2023.106068. Epub 2023 Mar 8. Neurobiol Dis. 2023. PMID: 36898614 Free article.
Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, 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, Le Ber I, 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: synofzik m. J Neurol Sci. 2023 Aug 15;451:120711. doi: 10.1016/j.jns.2023.120711. Epub 2023 Jun 10. J Neurol Sci. 2023. PMID: 37348248 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. Among authors: synofzik m. Mol Neurodegener. 2023 Nov 15;18(1):85. doi: 10.1186/s13024-023-00677-6. Mol Neurodegener. 2023. PMID: 37968725 Free PMC article.
Diagnostic accuracy of research criteria for prodromal frontotemporal dementia.
Benussi A, Premi E, Grassi M, Alberici A, Cantoni V, Gazzina S, Archetti S, Gasparotti R, Fumagalli GG, Bouzigues A, Russell LL, Samra K, Cash DM, Bocchetta M, Todd EG, Convery RS, Swift I, Sogorb-Esteve A, Heller C, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Moreno F, Laforce RJ, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, Mendonça A, Tiraboschi P, Butler CR, Santana I, Gerhard A, Le Ber I, Pasquier F, Ducharme S, Levin J, Sorbi S, Otto M, Padovani A, Rohrer JD, Borroni B; Genetic Frontotemporal dementia Initiative (GENFI). Benussi A, et al. Among authors: synofzik m. Alzheimers Res Ther. 2024 Jan 12;16(1):10. doi: 10.1186/s13195-024-01383-1. Alzheimers Res Ther. 2024. PMID: 38216961 Free PMC article.
488 results