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C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
Lopez-Herdoiza MB, Bauché S, Wilmet B, Le Duigou C, Roussel D, Frah M, Béal J, Devely G, Boluda S, Frick P, Bouteiller D, Dussaud S, Guillabert P, Dalle C, Dumont M, Camuzat A, Saracino D, Barbier M, Bruneteau G, Ravassard P, Neumann M, Nicole S, Le Ber I, Brice A, Latouche M. Lopez-Herdoiza MB, et al. Among authors: saracino d. Front Cell Neurosci. 2023 Apr 17;17:1155929. doi: 10.3389/fncel.2023.1155929. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37138765 Free PMC article.
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.
Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study.
Querin G, Bede P, El Mendili MM, Li M, Pélégrini-Issac M, Rinaldi D, Catala M, Saracino D, Salachas F, Camuzat A, Marchand-Pauvert V, Cohen-Adad J, Colliot O, Le Ber I, Pradat PF; Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Study Group. Querin G, et al. Among authors: saracino d. Ann Neurol. 2019 Aug;86(2):158-167. doi: 10.1002/ana.25520. Epub 2019 Jun 27. Ann Neurol. 2019. PMID: 31177556 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
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I. Huin V, et al. Among authors: saracino d. Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. Brain. 2020. PMID: 31855245 Free article.
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.
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.
Carneiro F, Saracino D, Huin V, Clot F, Delorme C, Méneret A, Thobois S, Cormier F, Corvol JC, Lenglet T, Vidailhet M, Habert MO, Gabelle A, Beaufils É, Mondon K, Tir M, Andriuta D, Brice A, Deramecourt V, Le Ber I. Carneiro F, et al. Among authors: saracino d. Parkinsonism Relat Disord. 2020 Nov;80:73-81. doi: 10.1016/j.parkreldis.2020.09.019. Epub 2020 Sep 15. Parkinsonism Relat Disord. 2020. PMID: 32961397
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.
85 results