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Page 1
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Pilliod J, et al. Among authors: n guyen k. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. Ann Neurol. 2015. PMID: 26288984
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Depienne C, et al. J Med Genet. 2007 Apr;44(4):281-4. doi: 10.1136/jmg.2006.046425. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098887 Free PMC article.
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
du Montcel ST, Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A. du Montcel ST, et al. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31. Brain. 2008. PMID: 18378516
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. Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. Brain. 2009. PMID: 19491146
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.
H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N'Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M. H'mida-Ben Brahim D, et al. J Neurol. 2011 Jan;258(1):56-67. doi: 10.1007/s00415-010-5682-5. Epub 2010 Aug 27. J Neurol. 2011. PMID: 20798953
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Chan E, Charles P, Ribai P, Goizet C, Marelli C, Vincitorio CM, Le Bayon A, Guyant-Maréchal L, Vandenberghe N, Anheim M, Devos D, Freeman L, Le Ber I, N'Guyen K, Tchikviladzé M, Labauge P, Hannequin D, Brice A, Durr A, du Montcel ST. Chan E, et al. Mov Disord. 2011 Feb 15;26(3):534-8. doi: 10.1002/mds.23531. Epub 2011 Feb 1. Mov Disord. 2011. PMID: 21287600
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. Arch Neurol. 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713. Arch Neurol. 2012. PMID: 22491195
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Brain. 2014 Aug;137(Pt 8):2329-45. doi: 10.1093/brain/awu138. Epub 2014 Jun 16. Brain. 2014. PMID: 24934289 Free PMC article.
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Brain. 2014 Dec;137(Pt 12):e310. doi: 10.1093/brain/awu228. Epub 2014 Aug 11. Brain. 2014. PMID: 25113788 Free PMC article. No abstract available.
77 results