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Page 1
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: van minkelen r. Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190611 Free PMC article.
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort.
Bocchetta M, Todd EG, Bouzigues A, Cash DM, Nicholas JM, Convery RS, Russell LL, Thomas DL, Malone IB, Iglesias JE, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, 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. Brain Commun. 2023 Mar 10;5(2):fcad061. doi: 10.1093/braincomms/fcad061. eCollection 2023. Brain Commun. 2023. PMID: 36970046 Free PMC article.
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.
Jiskoot LC, Russell LL, Peakman G, Convery RS, Greaves CV, Bocchetta M, Poos JM, Seelaar H, Giannini LAA, van Swieten JC, van Minkelen R, Pijnenburg YAL, Rowe JB, Borroni B, Galimberti D, Masellis M, Tartaglia C, Finger E, Butler CR, Graff C, Laforce R Jr, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, le Ber I, Levin J, Otto M, Pasquier F, Santana I, Cash DM, Thomas D, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI). Jiskoot LC, et al. Among authors: van minkelen r, van swieten jc. J Neurol Sci. 2023 Mar 15;446:120590. doi: 10.1016/j.jns.2023.120590. Epub 2023 Feb 16. J Neurol Sci. 2023. PMID: 36812822 Free 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.
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. 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.
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.
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.
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.
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia.
Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, Hardy C, van Swieten JC, Seelaar H, Jiskoot LC, 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, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Warren JD, Rohrer JD, Russell LL; GENetic Frontotemporal dementia Initiative (GENFI). Samra K, et al. Brain Commun. 2023 Feb 17;5(2):fcad036. doi: 10.1093/braincomms/fcad036. eCollection 2023. Brain Commun. 2023. PMID: 36938528 Free PMC article.
Legius syndrome in fourteen families.
Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E. Denayer E, et al. Among authors: van minkelen r, van spaendonck zwarts ky, van den ouweland am, van bever y, van den ende j. Hum Mutat. 2011 Jan;32(1):E1985-98. doi: 10.1002/humu.21404. Hum Mutat. 2011. PMID: 21089071 Free PMC article.
115 results