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Page 1
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
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.
Language impairment in the genetic forms of behavioural variant frontotemporal dementia.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Seelaar H, Jiskoot L, 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. J Neurol. 2023 Apr;270(4):1976-1988. doi: 10.1007/s00415-022-11512-1. Epub 2022 Dec 20. J Neurol. 2023. PMID: 36538154 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. 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.
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.
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.
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. 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.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Ottenhoff MJ, Rietman AB, Mous SE, Plasschaert E, Gawehns D, Brems H, Oostenbrink R; ENCORE-NF1 Team; van Minkelen R, Nellist M, Schorry E, Legius E, Moll HA, Elgersma Y. Ottenhoff MJ, et al. Among authors: van minkelen r. Genet Med. 2020 May;22(5):889-897. doi: 10.1038/s41436-020-0752-2. Epub 2020 Feb 4. Genet Med. 2020. PMID: 32015538 Free PMC article.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ. Douben HCW, et al. Among authors: van de laar i, van minkelen r, van ierland y, van veghel plandsoen m, van bever y, van unen l, van den bersselaar l, van ham tj, van vliet m. Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8. Hum Mutat. 2022. PMID: 36251260 Free PMC article.
114 results