Charles P - Search Results

1

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.

Schüpbach M, Lohmann E, Anheim M, Lesage S, Czernecki V, Yaici S, Worbe Y, Charles P, Welter ML, Pollak P, Dürr A, Agid Y, Brice A. Schüpbach M, et al. Among authors: charles p. Mov Disord. 2007 Jan;22(1):119-22. doi: 10.1002/mds.21178. Mov Disord. 2007. PMID: 17080443 Clinical Trial.

2

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.

3

Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.

Ribaï P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, Charles P, Béraud AS, Schmitt M, Koenig M, Mallet A, Brice A, Dürr A. Ribaï P, et al. Among authors: charles p. Arch Neurol. 2007 Apr;64(4):558-64. doi: 10.1001/archneur.64.4.558. Arch Neurol. 2007. PMID: 17420319 Clinical Trial.

4

Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

Mochel F, Charles P, Seguin F, Barritault J, Coussieu C, Perin L, Le Bouc Y, Gervais C, Carcelain G, Vassault A, Feingold J, Rabier D, Durr A. Mochel F, et al. Among authors: charles p. PLoS One. 2007 Jul 25;2(7):e647. doi: 10.1371/journal.pone.0000647. PLoS One. 2007. PMID: 17653274 Free PMC article.

5

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

6

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

7

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

8

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity.

Marelli C, Figoni J, Charles P, Anheim M, Tchikviladze M, Vincitorio CM, du Montcel ST, Brice A, Golmard JL, Dürr A. Marelli C, et al. Among authors: charles p. Mov Disord. 2012 Jan;27(1):135-8. doi: 10.1002/mds.23879. Epub 2011 Nov 10. Mov Disord. 2012. PMID: 22076850

9

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

10

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C. Thevenon J, et al. Among authors: charles p. J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856. J Med Genet. 2012. PMID: 22693284

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