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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. 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: millecamps s. J Alzheimers Dis. 2010;22(3):765-9. J Alzheimers Dis. 2010. PMID: 21158017
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. J Med Genet. 2012 Apr;49(4):258-63. doi: 10.1136/jmedgenet-2011-100699. J Med Genet. 2012. PMID: 22499346
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.
Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, Lumbroso S, Rouleau GA, Meininger V, Camu W. Corcia P, et al. Among authors: millecamps s. Neurology. 2012 May 8;78(19):1519-26. doi: 10.1212/WNL.0b013e3182553c88. Epub 2012 Apr 25. Neurology. 2012. PMID: 22539580
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH. Freischmidt A, et al. Among authors: millecamps s. Nat Neurosci. 2015 May;18(5):631-6. doi: 10.1038/nn.4000. Epub 2015 Mar 24. Nat Neurosci. 2015. PMID: 25803835
Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients.
Teyssou E, Chartier L, Albert M, Bouscary A, Antoine JC, Camdessanché JP, Rotolo F, Couratier P, Salachas F, Seilhean D, Millecamps S. Teyssou E, et al. Among authors: millecamps s. Neurobiol Aging. 2016 Jun;42:218.e1-3. doi: 10.1016/j.neurobiolaging.2016.03.022. Epub 2016 Mar 24. Neurobiol Aging. 2016. PMID: 27095681
Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.
Teyssou E, Chartier L, Amador MD, Lam R, Lautrette G, Nicol M, Machat S, Da Barroca S, Moigneu C, Mairey M, Larmonier T, Saker S, Dussert C, Forlani S, Fontaine B, Seilhean D, Bohl D, Boillée S, Meininger V, Couratier P, Salachas F, Stevanin G, Millecamps S. Teyssou E, et al. Among authors: millecamps s. Neurobiol Aging. 2017 Oct;58:239.e11-239.e20. doi: 10.1016/j.neurobiolaging.2017.06.018. Epub 2017 Jun 24. Neurobiol Aging. 2017. PMID: 28716533 Free article.
Phenotypic and genotypic studies of ALS cases in ALS-SMA families.
Corcia P, Vourc'h P, Blasco H, Couratier P, Dangoumau A, Bellance R, Desnuelle C, Viader F, Pautot V, Millecamps S, Bakkouche S, Salachas F, Andres CR, Meininger V, Camu W. Corcia P, et al. Among authors: millecamps s. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):432-437. doi: 10.1080/21678421.2018.1440406. Epub 2018 Mar 1. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29493298
68 results