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Page 1
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
Fournier C, Barbier M, Camuzat A, Anquetil V, Lattante S, Clot F, Cazeneuve C, Rinaldi D, Couratier P, Deramecourt V, Sabatelli M, Belliard S, Vercelletto M, Forlani S, Jornea L; French Clinical and Genetic Research Network on FTLD/FTLD-ALS; PREVDEMALS and FTLD-Exome Study Groups; Leguern E, Brice A, Le Ber I. Fournier C, et al. Among authors: anquetil v. Neurobiol Aging. 2019 Feb;74:234.e1-234.e8. doi: 10.1016/j.neurobiolaging.2018.09.010. Epub 2018 Sep 19. Neurobiol Aging. 2019. PMID: 30337192 Free 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. Among authors: anquetil v. 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.
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: anquetil v. 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.
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.
Fournier C, Anquetil V, Camuzat A, Stirati-Buron S, Sazdovitch V, Molina-Porcel L, Turbant S, Rinaldi D, Sánchez-Valle R, Barbier M, Latouche M; Neuro-CEB Neuropathology Network; Stevanin G, Seilhean D, Brice A, Duyckaerts C, Le Ber I. Fournier C, et al. Among authors: anquetil v. Acta Neuropathol Commun. 2018 May 30;6(1):41. doi: 10.1186/s40478-018-0547-8. Acta Neuropathol Commun. 2018. PMID: 29848387 Free PMC article. No abstract available.
New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers.
Viodé A, Fournier C, Camuzat A, Fenaille F; NeuroCEB Brain Bank; Latouche M, Elahi F, Le Ber I, Junot C, Lamari F, Anquetil V, Becher F. Viodé A, et al. Among authors: anquetil v. Front Neurosci. 2018 Aug 28;12:589. doi: 10.3389/fnins.2018.00589. eCollection 2018. Front Neurosci. 2018. PMID: 30210275 Free PMC article.
Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation.
Papegaey A, Eddarkaoui S, Deramecourt V, Fernandez-Gomez FJ, Pantano P, Obriot H, Machala C, Anquetil V, Camuzat A, Brice A, Maurage CA, Le Ber I, Duyckaerts C, Buée L, Sergeant N, Buée-Scherrer V. Papegaey A, et al. Among authors: anquetil v. Acta Neuropathol Commun. 2016 Jul 19;4(1):74. doi: 10.1186/s40478-016-0345-0. Acta Neuropathol Commun. 2016. PMID: 27435172 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34080625
Saturation mutagenesis reveals manifold determinants of exon definition.
Ke S, Anquetil V, Zamalloa JR, Maity A, Yang A, Arias MA, Kalachikov S, Russo JJ, Ju J, Chasin LA. Ke S, et al. Among authors: anquetil v. Genome Res. 2018 Jan;28(1):11-24. doi: 10.1101/gr.219683.116. Epub 2017 Dec 14. Genome Res. 2018. PMID: 29242188 Free PMC article.
14 results