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Page 1
Immunoglobulin gene analysis in chronic lymphocytic leukemia in the era of next generation sequencing.
Davi F, Langerak AW, de Septenville AL, Kolijn PM, Hengeveld PJ, Chatzidimitriou A, Bonfiglio S, Sutton LA, Rosenquist R, Ghia P, Stamatopoulos K; ERIC, the European Research Initiative on CLL, and the EuroClonality-NGS Working Group. Davi F, et al. Among authors: de septenville al. Leukemia. 2020 Oct;34(10):2545-2551. doi: 10.1038/s41375-020-0923-9. Epub 2020 Jun 19. Leukemia. 2020. PMID: 32561841 Free PMC article. Review.
[Watch out for a second train].
Bravetti C, Le Garff-Tavernier M, De Septenville A, Maloum K, Toutée A, Charlotte F, Lavaud A, Choquet S, Chapiro É, Maillon A, Davi F, Costopoulos M, Degaud M. Bravetti C, et al. Ann Biol Clin (Paris). 2020 Oct 1;78(5):527-536. doi: 10.1684/abc.2020.1591. Ann Biol Clin (Paris). 2020. PMID: 33026348 Free article. French.
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, 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. Brain. 2016 Apr;139(Pt 4):e22. doi: 10.1093/brain/awv368. Epub 2015 Dec 30. Brain. 2016. PMID: 26719380 Free PMC article. No abstract available.
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. 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
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, 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. Brain. 2015 Aug;138(Pt 8):e373. doi: 10.1093/brain/awu385. Epub 2015 Jan 8. Brain. 2015. PMID: 25576309 Free PMC article. No abstract available.
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, 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. Brain. 2015 Sep;138(Pt 9):e377. doi: 10.1093/brain/awv015. Epub 2015 Feb 12. Brain. 2015. PMID: 25681413 Free PMC article. No abstract available.
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, 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. Brain. 2015 Oct;138(Pt 10):e386. doi: 10.1093/brain/awv116. Epub 2015 May 7. Brain. 2015. PMID: 25953779 No abstract available.
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.
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. Neurogenetics. 2014 May;15(2):95-100. doi: 10.1007/s10048-014-0389-x. Epub 2014 Jan 28. Neurogenetics. 2014. PMID: 24469240
28 results