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Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.
Saracino D, Clot F, Camuzat A, Anquetil V, Hannequin D, Guyant-Maréchal L, Didic M, Guillot-Noël L, Rinaldi D, Latouche M, Forlani S, Ghassab Y, Coppola C, Di Iorio G, David I; French research network on FTD/FTD-ALS; Le Guern E, Brice A, Le Ber I. Saracino D, et al. Neurobiol Aging. 2018 Dec;72:187.e11-187.e14. doi: 10.1016/j.neurobiolaging.2018.06.037. Epub 2018 Jun 30. Neurobiol Aging. 2018. PMID: 30005904 Free article.
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.
Saracino D, Sellami L, Clot F, Camuzat A, Lamari F, Rucheton B, Benyounes I, Roué-Jagot C, Lagarde J, Sarazin M, Jornea L, Forlani S, LeGuern E, Dubois B, Brice A, Le Ber I. Saracino D, et al. Neurobiol Aging. 2020 Jan;85:154.e9-154.e11. doi: 10.1016/j.neurobiolaging.2019.06.002. Epub 2019 Jun 10. Neurobiol Aging. 2020. PMID: 31262553
Cognitive inhibition impairments in presymptomatic C9orf72 carriers.
Montembeault M, Sayah S, Rinaldi D, Le Toullec B, Bertrand A, Funkiewiez A, Saracino D, Camuzat A, Couratier P, Chouly M, Hannequin D, Aubier-Girard C, Pasquier F, Delbeuck X, Colliot O, Batrancourt B, Azuar C, Lévy R, Dubois B, Le Ber I, Migliaccio R; PrevDemAls study group. Montembeault M, et al. Among authors: saracino d. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):366-372. doi: 10.1136/jnnp-2019-322242. Epub 2020 Feb 13. J Neurol Neurosurg Psychiatry. 2020. PMID: 32054668
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.
Sellami L, Rucheton B, Ben Younes I, Camuzat A, Saracino D, Rinaldi D, Epelbaum S, Azuar C, Levy R, Auriacombe S, Hannequin D, Pariente J, Barbier M, Boutoleau-Bretonnière C, Couratier P, Pasquier F, Deramecourt V, Sauvée M, Sarazin M, Lagarde J, Roué-Jagot C, Forlani S, Jornea L, David I; French Research Network on FTLD/FTLD-ALS; PREVDEMALS and Predict-PGRN Groups; LeGuern E, Dubois B, Brice A, Clot F, Lamari F, Le Ber I. Sellami L, et al. Among authors: saracino d. Neurobiol Aging. 2020 Jul;91:167.e1-167.e9. doi: 10.1016/j.neurobiolaging.2020.02.014. Epub 2020 Feb 21. Neurobiol Aging. 2020. PMID: 32171590 Free article.
Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Kmetzsch V, Anquetil V, Saracino D, Rinaldi D, Camuzat A, Gareau T, Jornea L, Forlani S, Couratier P, Wallon D, Pasquier F, Robil N, de la Grange P, Moszer I, Le Ber I, Colliot O, Becker E; PREV-DEMALS study group. Kmetzsch V, et al. Among authors: saracino d. J Neurol Neurosurg Psychiatry. 2021 May;92(5):485-493. doi: 10.1136/jnnp-2020-324647. Epub 2020 Nov 25. J Neurol Neurosurg Psychiatry. 2021. PMID: 33239440 Free PMC article.
Primary Progressive Aphasia Associated With GRN Mutations: New Insights Into the Nonamyloid Logopenic Variant.
Saracino D, Ferrieux S, Noguès-Lassiaille M, Houot M, Funkiewiez A, Sellami L, Deramecourt V, Pasquier F, Couratier P, Pariente J, Géraudie A, Epelbaum S, Wallon D, Hannequin D, Martinaud O, Clot F, Camuzat A, Bottani S, Rinaldi D, Auriacombe S, Sarazin M, Didic M, Boutoleau-Bretonnière C, Thauvin-Robinet C, Lagarde J, Roué-Jagot C, Sellal F, Gabelle A, Etcharry-Bouyx F, Morin A, Coppola C, Levy R, Dubois B, Brice A, Colliot O, Gorno-Tempini ML, Teichmann M, Migliaccio R, Le Ber I; French Research Network on FTD/FTD-ALS. Saracino D, et al. Neurology. 2021 Jul 6;97(1):e88-e102. doi: 10.1212/WNL.0000000000012174. Epub 2021 May 12. Neurology. 2021. PMID: 33980708
85 results