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A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.
Corcia P, Danel V, Lacour A, Beltran S, Andres C, Couratier P, Blasco H, Vourc'h P. Corcia P, et al. Among authors: couratier p. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):298-301. doi: 10.1080/21678421.2016.1265564. Epub 2017 Jan 5. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 28054830
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: couratier p. 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. J Alzheimers Dis. 2010;22(3):765-9. J Alzheimers Dis. 2010. PMID: 21158017
Early onset Parkinsonism associated with an intronic SOD1 mutation.
Kacem I, Funalot B, Torny F, Lautrette G, Andersen PM, Couratier P. Kacem I, et al. Among authors: couratier p. Amyotroph Lateral Scler. 2012 May;13(3):315-7. doi: 10.3109/17482968.2011.623301. Epub 2012 Jan 3. Amyotroph Lateral Scler. 2012. PMID: 22214312
279 results