Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matěj R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernández I, Boada M, Ruiz A, de Mendonça A, Miltenberger-Miltényi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schöls L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimón J, Lleó A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Ströbel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C. van der Zee J, et al. Among authors: do couto fs. Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5. Acta Neuropathol. 2014. PMID: 24899140 Free PMC article.
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 Free PMC article.
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia.
Shafiei G, Bazinet V, Dadar M, Manera AL, Collins DL, Dagher A, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Butler C, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Jiskoot LC, Seelaar H, van Swieten JC, Rohrer JD, Misic B, Ducharme S; Frontotemporal Lobar Degeneration Neuroimaging Initiative (FTLDNI); GENetic Frontotemporal dementia Initiative (GENFI). Shafiei G, et al. Brain. 2023 Jan 5;146(1):321-336. doi: 10.1093/brain/awac069. Brain. 2023. PMID: 35188955 Free PMC article.
Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.
Bouzigues A, Russell LL, Peakman G, Bocchetta M, Greaves CV, Convery RS, Todd E, 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, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Rohrer JD; Genetic FTD Initiative, GENFI. Bouzigues A, et al. J Neurol. 2022 Aug;269(8):4322-4332. doi: 10.1007/s00415-022-11068-0. Epub 2022 Mar 29. J Neurol. 2022. PMID: 35348856 Free PMC article.
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia.
Sogorb-Esteve A, Nilsson J, Swift IJ, Heller C, Bocchetta M, Russell LL, Peakman G, Convery RS, van Swieten JC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Gobom J, Brinkmalm A, Blennow K, Zetterberg H, Rohrer JD; GENetic FTD Initiative. Sogorb-Esteve A, et al. Alzheimers Res Ther. 2022 Aug 31;14(1):118. doi: 10.1186/s13195-022-01042-3. Alzheimers Res Ther. 2022. PMID: 36045450 Free PMC article.
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. 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.
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. 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. 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.
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
Finger E, Malik R, Bocchetta M, Coleman K, Graff C, Borroni B, Masellis M, Laforce R, Greaves CV, Russell LL, Convery RS, Bouzigues A, Cash DM, Otto M, Synofzik M, Rowe JB, Galimberti D, Tiraboschi P, Bartha R, Shoesmith C, Tartaglia MC, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Gerhard A, Sanchez-Valle R, de Mendonça A, Moreno F, Vandenberghe R, Le Ber I, Levin J, Pasquier F, Santana I, Rohrer JD, Ducharme S; Genetic FTD Initiative, GENFI. Finger E, et al. Brain. 2023 May 2;146(5):2120-2131. doi: 10.1093/brain/awac446. Brain. 2023. PMID: 36458975
20 results