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Page 1
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: charles p. Arch Neurol. 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713. Arch Neurol. 2012. PMID: 22491195
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Stevanin G, et al. Among authors: charles p. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322883 Free 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. Among authors: charles p. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31. Brain. 2008. PMID: 18378516
Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.
Schmitz-Hübsch T, Coudert M, Giunti P, Globas C, Baliko L, Fancellu R, Mariotti C, Filla A, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Schulz JB, Klopstock T, Melegh B, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Among authors: charles p. Mov Disord. 2010 Apr 15;25(5):587-95. doi: 10.1002/mds.22740. Mov Disord. 2010. PMID: 20175183
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. Among authors: charles p. Mov Disord. 2011 Feb 15;26(3):534-8. doi: 10.1002/mds.23531. Epub 2011 Feb 1. Mov Disord. 2011. PMID: 21287600
Depression comorbidity in spinocerebellar ataxia.
Schmitz-Hübsch T, Coudert M, Tezenas du Montcel S, Giunti P, Labrum R, Dürr A, Ribai P, Charles P, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Baliko L, Melegh B, Filla A, Salvatore E, van de Warrenburg BP, Szymanski S, Infante J, Timmann D, Boesch S, Depondt C, Kang JS, Schulz JB, Klopstock T, Lossnitzer N, Löwe B, Frick C, Rottländer D, Schlaepfer TE, Klockgether T. Schmitz-Hübsch T, et al. Among authors: charles p. Mov Disord. 2011 Apr;26(5):870-6. doi: 10.1002/mds.23698. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21437988
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. Goizet C, et al. Among authors: charles p. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21618648
955 results