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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. Among authors: cazeneuve c. 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.
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. Among authors: cazeneuve c. 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
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. Among authors: cazeneuve c. 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
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: cazeneuve c. J Med Genet. 2012 Apr;49(4):258-63. doi: 10.1136/jmedgenet-2011-100699. J Med Genet. 2012. PMID: 22499346
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.
Le Ber I, De Septenville A, Millecamps S, Camuzat A, Caroppo P, Couratier P, Blanc F, Lacomblez L, Sellal F, Fleury MC, Meininger V, Cazeneuve C, Clot F, Flabeau O, LeGuern E, Brice A; French Clinical and Genetic Research Network on FTLD/FTLD-ALS. Le Ber I, et al. Among authors: cazeneuve c. Neurobiol Aging. 2015 Nov;36(11):3116.e5-3116.e8. doi: 10.1016/j.neurobiolaging.2015.08.009. Epub 2015 Aug 14. Neurobiol Aging. 2015. PMID: 26476236
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Teyssou E, Muratet F, Amador MD, Ferrien M, Lautrette G, Machat S, Boillée S, Larmonier T, Saker S, Leguern E, Cazeneuve C, Marie Y, Guegan J, Gyorgy B, Cintas P, Meininger V, Le Forestier N, Salachas F, Couratier P, Camu W, Seilhean D, Millecamps S. Teyssou E, et al. Among authors: cazeneuve c. Neurobiol Aging. 2021 Mar;99:102.e11-102.e20. doi: 10.1016/j.neurobiolaging.2020.10.015. Epub 2020 Oct 23. Neurobiol Aging. 2021. PMID: 33218681
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F, Teyssou E, Chiot A, Boillée S, Lobsiger CS, Bohl D, Gyorgy B, Guegan J, Marie Y, Amador MDM, Salachas F, Meininger V, Bernard E, Antoine JC, Camdessanché JP, Camu W, Cazeneuve C, Fauret-Amsellem AL, Leguern E, Mouzat K, Guissart C, Lumbroso S, Corcia P, Vourc'h P, Grapperon AM, Attarian S, Verschueren A, Seilhean D, Millecamps S. Muratet F, et al. Among authors: cazeneuve c. J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):942-949. doi: 10.1136/jnnp-2020-325921. Epub 2021 Mar 30. J Neurol Neurosurg Psychiatry. 2021. PMID: 33785574
Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis.
Millecamps S, Da Barroca S, Cazeneuve C, Salachas F, Pradat PF, Danel-Brunaud V, Vandenberghe N, Lacomblez L, Le Forestier N, Bruneteau G, Camu W, Brice A, Meininger V, LeGuern E. Millecamps S, et al. Among authors: cazeneuve c. Proc Natl Acad Sci U S A. 2010 Jun 29;107(26):E107; author reply E108. doi: 10.1073/pnas.1006190107. Epub 2010 Jun 10. Proc Natl Acad Sci U S A. 2010. PMID: 20538972 Free PMC article. No abstract available.
100 results