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144 results

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A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain).
Palencia-Madrid L, Sánchez-Valle R, Fernández de Retana I, Borrego S, Grau-Rivera O, Reñé R, Hernández I, Almenar C, Rossi G, Caroppo P, Redaelli V, Le Ber I, Camuzat A, Brice A, Antonell A, Balasa M, Gelpi E, Lladó A, de Pancorbo MM. Palencia-Madrid L, et al. Among authors: redaelli v. Neurobiol Aging. 2019 Dec;84:236.e9-236.e15. doi: 10.1016/j.neurobiolaging.2019.08.015. Epub 2019 Aug 21. Neurobiol Aging. 2019. PMID: 31537395
Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.
Karch CM, Ezerskiy L, Redaelli V, Giovagnoli AR, Tiraboschi P, Pelliccioni G, Pelliccioni P, Kapetis D, D'Amato I, Piccoli E, Ferretti MG, Tagliavini F, Rossi G. Karch CM, et al. Among authors: redaelli v. Neurobiol Aging. 2016 Feb;38:215.e1-215.e12. doi: 10.1016/j.neurobiolaging.2015.10.029. Epub 2015 Nov 2. Neurobiol Aging. 2016. PMID: 26652843 Free PMC article.
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.
Redaelli V, Rossi G, Maderna E, Kovacs GG, Piccoli E, Caroppo P, Cacciatore F, Spinello S, Grisoli M, Sozzi G, Salmaggi A, Tagliavini F, Giaccone G. Redaelli V, et al. Brain Pathol. 2018 Jan;28(1):72-76. doi: 10.1111/bpa.12480. Epub 2017 Feb 15. Brain Pathol. 2018. PMID: 27997711 Free PMC article.
Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study.
Premi E, Grassi M, van Swieten J, Galimberti D, Graff C, Masellis M, Tartaglia C, Tagliavini F, Rowe JB, Laforce R Jr, Finger E, Frisoni GB, de Mendonça A, Sorbi S, Gazzina S, Cosseddu M, Archetti S, Gasparotti R, Manes M, Alberici A, Cardoso MJ, Bocchetta M, Cash DM, Ourselin S, Padovani A, Rohrer JD, Borroni B; Genetic FTD Initiative (GENFI). Premi E, et al. Brain. 2017 Jun 1;140(6):1784-1791. doi: 10.1093/brain/awx103. Brain. 2017. PMID: 28460069 Free PMC article.
Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study.
Galimberti D, Fumagalli GG, Fenoglio C, Cioffi SMG, Arighi A, Serpente M, Borroni B, Padovani A, Tagliavini F, Masellis M, Tartaglia MC, van Swieten J, Meeter L, Graff C, de Mendonça A, Bocchetta M, Rohrer JD, Scarpini E; Genetic FTD Initiative (GENFI). Galimberti D, et al. Neurobiol Aging. 2018 Feb;62:245.e9-245.e12. doi: 10.1016/j.neurobiolaging.2017.10.016. Epub 2017 Nov 13. Neurobiol Aging. 2018. PMID: 29146050 Free PMC article.
Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study.
Cash DM, Bocchetta M, Thomas DL, Dick KM, van Swieten JC, Borroni B, Galimberti D, Masellis M, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, de Mendonça A, Sorbi S, Rossor MN, Ourselin S, Rohrer JD; Genetic FTD Initiative, GENFI. Cash DM, et al. Neurobiol Aging. 2018 Feb;62:191-196. doi: 10.1016/j.neurobiolaging.2017.10.008. Epub 2017 Oct 19. Neurobiol Aging. 2018. PMID: 29172163 Free PMC article.
Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales.
Fumagalli GG, Basilico P, Arighi A, Bocchetta M, Dick KM, Cash DM, Harding S, Mercurio M, Fenoglio C, Pietroboni AM, Ghezzi L, van Swieten J, Borroni B, de Mendonça A, Masellis M, Tartaglia MC, Rowe JB, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, Sorbi S, Scarpini E, Rohrer JD, Galimberti D; Genetic FTD Initiative (GENFI). Fumagalli GG, et al. Alzheimers Res Ther. 2018 May 24;10(1):46. doi: 10.1186/s13195-018-0376-9. Alzheimers Res Ther. 2018. PMID: 29793546 Free PMC article.
144 results