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Page 1
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E. Depienne C, et al. Among authors: cazeneuve c. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214208 Free PMC article.
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network. Clot F, et al. Among authors: cazeneuve c. Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. Brain. 2009. PMID: 19491146
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.
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
Autosomal dominant cerebellar ataxias.
Marelli C, Cazeneuve C, Brice A, Stevanin G, Dürr A. Marelli C, et al. Among authors: cazeneuve c. Rev Neurol (Paris). 2011 May;167(5):385-400. doi: 10.1016/j.neurol.2011.01.015. Epub 2011 May 5. Rev Neurol (Paris). 2011. PMID: 21546047 Review.
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
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaksen C, Brice A, Durr A. Tezenas du Montcel S, et al. Among authors: cazeneuve c. Arch Neurol. 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713. Arch Neurol. 2012. PMID: 22491195
100 results