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Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH; Project Mine Als Sequencing Consortium; Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, Dupuis L. Megat S, et al. Among authors: le ber i. Nat Commun. 2023 Jan 20;14(1):342. doi: 10.1038/s41467-022-35724-1. Nat Commun. 2023. PMID: 36670122 Free PMC article.
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
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V. Millecamps S, et al. Among authors: le ber i, le forestier n. J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577002 Free article.
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.
Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A; French clinical and genetic research network on FTD/FTD-MND. Broustal O, et al. Among authors: le ber i. J Alzheimers Dis. 2010;22(3):765-9. J Alzheimers Dis. 2010. PMID: 21158017
Fronto-temporal lobar degeneration: neuropathology in 60 cases.
Seilhean D, Le Ber I, Sarazin M, Lacomblez L, Millecamps S, Salachas F, Pradat PF, Le Forestier N, LeGuern E, Dubois B, Meininger V, Brice A, Hauw JJ, Duyckaerts C. Seilhean D, et al. Among authors: le ber i, le forestier n. J Neural Transm (Vienna). 2011 May;118(5):753-64. doi: 10.1007/s00702-011-0649-y. Epub 2011 May 4. J Neural Transm (Vienna). 2011. PMID: 21541771
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. Among authors: le ber i. 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.
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Cazeneuve C, Leguern E, Meininger V, Salachas F. Millecamps S, et al. Among authors: le ber i, le forestier n. J Med Genet. 2012 Apr;49(4):258-63. doi: 10.1136/jmedgenet-2011-100699. J Med Genet. 2012. PMID: 22499346
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
230 results