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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Hum Mutat. 2017 Mar;38(3):297-309. doi: 10.1002/humu.23161. Epub 2017 Jan 19.
Hum Mutat. 2017.
PMID: 28008748
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, Synofzik…
See abstract for full author list ➔
van der Zee J, et al. Among authors: rosario almeida 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.
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Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.
van der Ende EL, Meeter LH, Poos JM, Panman JL, Jiskoot LC, Dopper EGP, Papma JM, de Jong FJ, Verberk IMW, Teunissen C, Rizopoulos D, Heller C, Convery RS, Moore KM, Bocchetta M, Neason M, Cash DM, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler C, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni GB, Cappa S, Pijnenburg YAL, Rohrer JD, van Swieten JC; Genetic Frontotemporal dementia Initiative (GENFI).
van der Ende EL, et al.
Lancet Neurol. 2019 Dec;18(12):1103-1111. doi: 10.1016/S1474-4422(19)30354-0.
Lancet Neurol. 2019.
PMID: 31701893
Free article.
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Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.
Benussi A, Premi E, Gazzina S, Brattini C, Bonomi E, Alberici A, Jiskoot L, van Swieten JC, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Masellis M, Tartaglia C, Rowe JB, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Le Ber I, Pasquier F, Peakman G, Todd E, Bocchetta M, Rohrer JD, Borroni B; Genetic FTD Initiative (GENFI).
Benussi A, et al.
JAMA Netw Open. 2021 Jan 4;4(1):e2030194. doi: 10.1001/jamanetworkopen.2020.30194.
JAMA Netw Open. 2021.
PMID: 33404617
Free PMC article.
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An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers.
Premi E, Costa T, Gazzina S, Benussi A, Cauda F, Gasparotti R, Archetti S, Alberici A, van Swieten JC, Sanchez-Valle R, Moreno F, Santana I, Laforce R, Ducharme S, Graff C, Galimberti D, Masellis M, Tartaglia C, Rowe JB, Finger E, Tagliavini F, de Mendonça A, Vandenberghe R, Gerhard A, Butler CR, Danek A, Synofzik M, Levin J, Otto M, Ghidoni R, Frisoni G, Sorbi S, Peakman G, Todd E, Bocchetta M, Rohrer JD, Borroni B; GENFI Consortium Members.
Premi E, et al.
J Alzheimers Dis. 2022;86(1):205-218. doi: 10.3233/JAD-215447.
J Alzheimers Dis. 2022.
PMID: 35068455
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Disease-related cortical thinning in presymptomatic granulin mutation carriers.
Borrego-Écija S, Sala-Llonch R, van Swieten J, Borroni B, Moreno F, Masellis M, Tartaglia C, Graff C, Galimberti D, Laforce R Jr, Rowe JB, Finger E, Vandenberghe R, Tagliavini F, de Mendonça A, Santana I, Synofzik M, Ducharme S, Levin J, Danek A, Gerhard A, Otto M, Butler C, Frisoni G, Sorbi S, Heller C, Bocchetta M, Cash DM, Convery RS, Moore KM, Rohrer JD, Sanchez-Valle R; Genetic FTD Initiative GENFI.
Borrego-Écija S, et al.
Neuroimage Clin. 2021;29:102540. doi: 10.1016/j.nicl.2020.102540. Epub 2020 Dec 29.
Neuroimage Clin. 2021.
PMID: 33418170
Free PMC article.
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Differential early subcortical involvement in genetic FTD within the GENFI cohort.
Bocchetta M, Todd EG, Peakman G, Cash DM, Convery RS, Russell LL, Thomas DL, Eugenio Iglesias J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI).
Bocchetta M, et al.
Neuroimage Clin. 2021;30:102646. doi: 10.1016/j.nicl.2021.102646. Epub 2021 Mar 29.
Neuroimage Clin. 2021.
PMID: 33895632
Free PMC article.
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