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Page 1
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A. Le Guennec K, et al. Among authors: le ber i. Mol Psychiatry. 2017 Aug;22(8):1119-1125. doi: 10.1038/mp.2016.226. Epub 2016 Dec 13. Mol Psychiatry. 2017. PMID: 27956742
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D. Le Ber I, et al. Brain. 2004 Sep;127(Pt 9):1979-92. doi: 10.1093/brain/awh216. Epub 2004 Jun 23. Brain. 2004. PMID: 15215218
Valosin-containing protein gene mutations: clinical and neuropathologic features.
Guyant-Maréchal L, Laquerrière A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, Le Ber I, Frébourg T, Hannequin D, Campion D. Guyant-Maréchal L, et al. Among authors: le ber i. Neurology. 2006 Aug 22;67(4):644-51. doi: 10.1212/01.wnl.0000225184.14578.d3. Epub 2006 Jun 21. Neurology. 2006. PMID: 16790606
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerrière A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Antérion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A; French Research Network on FTD/FTD-MND. Le Ber I, et al. Hum Mutat. 2007 Sep;28(9):846-55. doi: 10.1002/humu.20520. Hum Mutat. 2007. PMID: 17436289
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; French research network on FTD/FTD-MND. Le Ber I, et al. Brain. 2008 Mar;131(Pt 3):732-46. doi: 10.1093/brain/awn012. Epub 2008 Feb 1. Brain. 2008. PMID: 18245784
Association study of the GAB2 gene with the risk of developing Alzheimer's disease.
Chapuis J, Hannequin D, Pasquier F, Bentham P, Brice A, Leber I, Frebourg T, Deleuze JF, Cousin E, Thaker U, Amouyel P, Mann D, Lendon C, Campion D, Lambert JC. Chapuis J, et al. Neurobiol Dis. 2008 Apr;30(1):103-6. doi: 10.1016/j.nbd.2007.12.006. Epub 2008 Jan 5. Neurobiol Dis. 2008. PMID: 18272374
Partial deletion of the MAPT gene: a novel mechanism of FTDP-17.
Rovelet-Lecrux A, Lecourtois M, Thomas-Anterion C, Le Ber I, Brice A, Frebourg T, Hannequin D, Campion D. Rovelet-Lecrux A, et al. Among authors: le ber i. Hum Mutat. 2009 Apr;30(4):E591-602. doi: 10.1002/humu.20979. Hum Mutat. 2009. PMID: 19263483
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B, Campion D, Meininger V, Brice A; French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease. Benajiba L, et al. Among authors: le ber i. Ann Neurol. 2009 Apr;65(4):470-3. doi: 10.1002/ana.21612. Ann Neurol. 2009. PMID: 19350673
252 results