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Page 1
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D. Nicolas G, et al. Among authors: blanc f. Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242991 Free PMC article.
Cognitive functions in neuromyelitis optica.
Blanc F, Zéphir H, Lebrun C, Labauge P, Castelnovo G, Fleury M, Sellal F, Tranchant C, Dujardin K, Vermersch P, de Seze J. Blanc F, et al. Arch Neurol. 2008 Jan;65(1):84-8. doi: 10.1001/archneurol.2007.16. Arch Neurol. 2008. PMID: 18195143
[Alzheimer disease, memory and estrogen].
Blanc F, Poisbeau P, Sellal F, Tranchant C, de Seze J, André G. Blanc F, et al. Rev Neurol (Paris). 2010 Apr;166(4):377-88. doi: 10.1016/j.neurol.2009.07.010. Rev Neurol (Paris). 2010. PMID: 19836813 Review. French.
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease.
Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S, Rollin-Sillaire A, Michon A, Le Ber I, Pariente J, Puel M, Paquet C, Croisile B, Thomas-Antérion C, Vercelletto M, Lévy R, Frébourg T, Hannequin D, Campion D; Investigators of the GMAJ project. Rovelet-Lecrux A, et al. Eur J Hum Genet. 2012 Jun;20(6):613-7. doi: 10.1038/ejhg.2011.225. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166940 Free PMC article.
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium; Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Majounie E, et al. Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9. Lancet Neurol. 2012. PMID: 22406228 Free PMC article.
Epileptic Amnesic Syndrome revealing Alzheimer's disease.
Cretin B, Blanc F, Gaultier C, Sellal F. Cretin B, et al. Among authors: blanc f. Epilepsy Res. 2012 Dec;102(3):206-9. doi: 10.1016/j.eplepsyres.2012.08.002. Epub 2012 Sep 5. Epilepsy Res. 2012. PMID: 22959716
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. Among authors: blanc f. J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456. J Alzheimers Dis. 2013. PMID: 23254636
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. JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849. JAMA Neurol. 2013. PMID: 24042580 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
1,172 results