Goizet C - Search Results

1

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: goizet c. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.

2

Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia.

Lesca G, Goizet C, Dürr A. Lesca G, et al. Among authors: goizet c. J Med Genet. 2002 Jul;39(7):522-5. doi: 10.1136/jmg.39.7.522. J Med Genet. 2002. PMID: 12114488 Free PMC article. No abstract available.

3

Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias.

Goizet C, Lesca G, Dürr A; French Group for Presymptomatic Testing in Neurogenetic Disorders. Goizet C, et al. Neurology. 2002 Nov 12;59(9):1330-6. doi: 10.1212/01.wnl.0000032255.75650.c2. Neurology. 2002. PMID: 12427879

4

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Le Ber I, Bouslam N, Rivaud-Péchoux S, Guimarães J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Dürr A. Le Ber I, et al. Among authors: goizet c. Brain. 2004 Apr;127(Pt 4):759-67. doi: 10.1093/brain/awh080. Epub 2004 Jan 21. Brain. 2004. PMID: 14736755

5

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A. Namekawa M, et al. Among authors: goizet c. Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e. Neurology. 2006. PMID: 16401858

6

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.

Depienne C, Fedirko E, Faucheux JM, Forlani S, Bricka B, Goizet C, Lesourd S, Stevanin G, Ruberg M, Durr A, Brice A. Depienne C, et al. Among authors: goizet c. Neurogenetics. 2007 Aug;8(3):231-3. doi: 10.1007/s10048-007-0090-4. Epub 2007 Jun 28. Neurogenetics. 2007. PMID: 17597328

7

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C. Sibon I, et al. Among authors: goizet c. Ann Neurol. 2007 Aug;62(2):177-84. doi: 10.1002/ana.21191. Ann Neurol. 2007. PMID: 17696175

8

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

Jouary T, Goizet C, Coupry I, Redonnet-Vernhet I, Levade T, Burgelin I, Toutain A, Delaporte E, Douillard C, Lacombe D, Taieb A, Arveiler B. Jouary T, et al. Among authors: goizet c. J Invest Dermatol. 2008 Feb;128(2):322-5. doi: 10.1038/sj.jid.5700987. Epub 2007 Oct 18. J Invest Dermatol. 2008. PMID: 17943190 Free article.

9

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium. Stevanin G, et al. Among authors: goizet c. Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13. Brain. 2008. PMID: 18079167

10

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: goizet c. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31. Brain. 2008. PMID: 18378516

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