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C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.
Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Antérion C, Didic M, Pariente J, Seilhean D, Ruberg M, Wargon I, Blanc F, Camu W, Michel BF, Berger E, Sauvée M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A. Le Ber I, et al. J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456. J Alzheimers Dis. 2013. PMID: 23254636
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Saïd G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Dürr A. Le Ber I, et al. Brain. 2003 Dec;126(Pt 12):2761-72. doi: 10.1093/brain/awg283. Epub 2003 Sep 23. Brain. 2003. PMID: 14506070 Free article.
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
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.
Le Ber I, Guedj E, Gabelle A, Verpillat P, Volteau M, Thomas-Anterion C, Decousus M, Hannequin D, Véra P, Lacomblez L, Camuzat A, Didic M, Puel M, Lotterie JA, Golfier V, Bernard AM, Vercelletto M, Magne C, Sellal F, Namer I, Michel BF, Pasquier J, Salachas F, Bochet J; French research network on FTD/FTD-MND; Brice A, Habert MO, Dubois B. Le Ber I, et al. Brain. 2006 Nov;129(Pt 11):3051-65. doi: 10.1093/brain/awl288. Brain. 2006. PMID: 17071924
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. van der Zee J, et al. Among authors: le ber i. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9484. Hum Mutat. 2007. PMID: 17345602
239 results