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Page 1
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Among authors: caroppo p. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.
Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A. Le Ber I, et al. Among authors: caroppo p. Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18. Neurobiol Aging. 2014. PMID: 24910390 Free PMC article.
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.
Le Ber I, De Septenville A, Millecamps S, Camuzat A, Caroppo P, Couratier P, Blanc F, Lacomblez L, Sellal F, Fleury MC, Meininger V, Cazeneuve C, Clot F, Flabeau O, LeGuern E, Brice A; French Clinical and Genetic Research Network on FTLD/FTLD-ALS. Le Ber I, et al. Among authors: caroppo p. Neurobiol Aging. 2015 Nov;36(11):3116.e5-3116.e8. doi: 10.1016/j.neurobiolaging.2015.08.009. Epub 2015 Aug 14. Neurobiol Aging. 2015. PMID: 26476236
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.
Luis E, Ortiz A, Eudave L, Ortega-Cubero S, Borroni B, van der Zee J, Gazzina S, Caroppo P, Rubino E, D'Agata F, Le Ber I, Santana I, Cunha G, Almeida MR, Boutoleau-Bretonnière C, Hannequin D, Wallon D, Rainero I, Galimberti D, Van Broeckhoven C, Pastor MA, Pastor P. Luis E, et al. Among authors: caroppo p. J Alzheimers Dis. 2016 May 7;53(1):303-13. doi: 10.3233/JAD-160006. J Alzheimers Dis. 2016. PMID: 27163810 Free article.
Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.
Caroppo P, Camuzat A, De Septenville A, Couratier P, Lacomblez L, Auriacombe S, Flabeau O, Jornéa L, Blanc F, Sellal F, Cretin B, Meininger V, Fleury MC, Couarch P, Dubois B, Brice A, Le Ber I. Caroppo P, et al. Alzheimers Dement (Amst). 2015 Oct 30;1(4):481-6. doi: 10.1016/j.dadm.2015.10.002. eCollection 2015 Dec. Alzheimers Dement (Amst). 2015. PMID: 27239526 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. Among authors: caroppo p. 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.
133 results