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Page 1
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.
Millecamps S, De Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, LeGuern E, Galimberti D; French research network on FTD and FTD-ALS; Brice A, Marie Y, Le Ber I. Millecamps S, et al. Among authors: de septenville a. Neurobiol Aging. 2014 Dec;35(12):2882.e13-2882.e15. doi: 10.1016/j.neurobiolaging.2014.07.016. Epub 2014 Jul 18. Neurobiol Aging. 2014. PMID: 25158920
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.
Lattante S, Le Ber I, Camuzat A, Dayan S, Godard C, Van Bortel I, De Septenville A, Ciura S, Brice A, Kabashi E; French Research Network on FTD and FTD-ALS. Lattante S, et al. Among authors: de septenville a. Neurobiol Aging. 2013 Oct;34(10):2443.e1-2. doi: 10.1016/j.neurobiolaging.2013.04.030. Epub 2013 Jun 4. Neurobiol Aging. 2013. PMID: 23759145
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS. Le Ber I, et al. Among authors: de septenville a. JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849. JAMA Neurol. 2013. PMID: 24042580 Free PMC article.
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A; French research Network on FTLD/FTLD-ALS. Le Ber I, et al. Among authors: de septenville a. Neurobiol Aging. 2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9. Neurobiol Aging. 2014. PMID: 24119545
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: de septenville a. 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.
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.
Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Augé G; French research network on FTD and FTD-ALS; Brice A, Pouget J, Paquis-Flucklinger V. Chaussenot A, et al. Among authors: de septenville a. Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. doi: 10.1016/j.neurobiolaging.2014.07.022. Epub 2014 Jul 24. Neurobiol Aging. 2014. PMID: 25155093
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: de septenville a. 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
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.
Clot F, Rovelet-Lecrux A, Lamari F, Noël S, Keren B, Camuzat A, Michon A, Jornea L, Laudier B, de Septenville A, Caroppo P, Campion D, Cazeneuve C, Brice A, LeGuern E, Le Ber I; French clinical and genetic research network on FTLD/FTLD-ALS. Clot F, et al. Among authors: de septenville a. Neurogenetics. 2014 May;15(2):95-100. doi: 10.1007/s10048-014-0389-x. Epub 2014 Jan 28. Neurogenetics. 2014. PMID: 24469240
DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.
Caroppo P, Le Ber I, Clot F, Rivaud-Péchoux S, Camuzat A, De Septenville A, Boutoleau-Bretonnière C, Mourlon V, Sauvée M, Lebouvier T, Bonnet AM, Levy R, Vercelletto M, Brice A; French Clinical and Genetic Research Network on Frontotemporal Dementia/Frontotemporal Dementia–Amyotrophic Lateral Sclerosis. Caroppo P, et al. Among authors: de septenville a. JAMA Neurol. 2014 Feb;71(2):208-15. doi: 10.1001/jamaneurol.2013.5100. JAMA Neurol. 2014. PMID: 24343258 Free PMC article.
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: de septenville a. Brain. 2014 Aug;137(Pt 8):2329-45. doi: 10.1093/brain/awu138. Epub 2014 Jun 16. Brain. 2014. PMID: 24934289 Free PMC article.
30 results