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Page 1
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.
Amador MD, Muratet F, Teyssou E, Banneau G, Danel-Brunaud V, Allart E, Antoine JC, Camdessanché JP, Anheim M, Rudolf G, Tranchant C, Fleury MC, Bernard E, Stevanin G, Millecamps S. Amador MD, et al. Among authors: danel brunaud v. Neurol Genet. 2019 Nov 13;5(6):e374. doi: 10.1212/NXG.0000000000000374. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042907 Free PMC article.
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.
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Millecamps S, Boillée S, Chabrol E, Camu W, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Corcia P, Le Forestier N, Lacomblez L, Bruneteau G, Seilhean D, Brice A, Feingold J, Meininger V, LeGuern E. Millecamps S, et al. Neurobiol Aging. 2011 Mar;32(3):557.e11-3. doi: 10.1016/j.neurobiolaging.2010.11.005. Epub 2011 Jan 8. Neurobiol Aging. 2011. PMID: 21220178
Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.
Millecamps S, Corcia P, Cazeneuve C, Boillée S, Seilhean D, Danel-Brunaud V, Vandenberghe N, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E, Salachas F. Millecamps S, et al. Neurobiol Aging. 2012 Apr;33(4):839.e1-3. doi: 10.1016/j.neurobiolaging.2011.11.010. Epub 2011 Dec 9. Neurobiol Aging. 2012. PMID: 22169395
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. Neurology. 2012 May 8;78(19):1519-26. doi: 10.1212/WNL.0b013e3182553c88. Epub 2012 Apr 25. Neurology. 2012. PMID: 22539580
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.
Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS. Lattante S, et al. Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6. Neurology. 2014. PMID: 25098532 Free PMC article.
Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.
Maurel C, Madji-Hounoum B, Thepault RA, Marouillat S, Brulard C, Danel-Brunaud V, Camdessanche JP, Blasco H, Corcia P, Andres CR, Vourc'h P. Maurel C, et al. Among authors: danel brunaud v. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):149-151. doi: 10.1080/21678421.2017.1349152. Epub 2017 Jul 13. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 28705014
Exploring the diagnosis delay and ALS functional impairment at diagnosis as relevant criteria for clinical trial enrolment.
Hamidou B, Marin B, Lautrette G, Nicol M, Camu W, Corcia P, Arnes-Bes MC, Tranchant C, Clavelou P, Hannequin D, Maurice G, Beauvais K, Antoine JC, Danel-Brunaud V, Viader F, Preux PM, Couratier P. Hamidou B, et al. Among authors: danel brunaud v. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):519-527. doi: 10.1080/21678421.2017.1353098. Epub 2017 Aug 1. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 28762856
30 results