Goizet C - Search Results

1

Stroke following pulmonary arteriovenous fistula embolization in a patient with HHT.

Felix S, Jeannin S, Goizet C, Thambo JB, Giraud S, Plauchu H, Montaudon M, Sibon I. Felix S, et al. Among authors: goizet c. Neurology. 2008 Dec 9;71(24):2012-4. doi: 10.1212/01.wnl.0000336973.27761.45. Neurology. 2008. PMID: 19064885 No abstract available.

2

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Among authors: goizet c. Hum Mutat. 2004 Apr;23(4):289-99. doi: 10.1002/humu.20017. Hum Mutat. 2004. PMID: 15024723

3

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Among authors: goizet c. Hum Mutat. 2006 Jun;27(6):598. doi: 10.1002/humu.9421. Hum Mutat. 2006. PMID: 16705692

4

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler Network. Lesca G, et al. Among authors: goizet c. Genet Med. 2007 Jan;9(1):14-22. doi: 10.1097/gim.0b013e31802d8373. Genet Med. 2007. PMID: 17224686 Free article.

5

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

6

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

Damon-Perriere N, Menegon P, Olivier A, Boespflug-Tanguy O, Niel F, Creveaux I, Dousset V, Brochet B, Goizet C. Damon-Perriere N, et al. Among authors: goizet c. Clin Neurol Neurosurg. 2008 Dec;110(10):1068-71. doi: 10.1016/j.clineuro.2008.08.003. Epub 2008 Oct 8. Clin Neurol Neurosurg. 2008. PMID: 18845387

7

Leber's optic neuropathy associated with disseminated white matter disease: a case report and review.

Perez F, Anne O, Debruxelles S, Menegon P, Lambrecq V, Lacombe D, Martin-Negrier ML, Brochet B, Goizet C. Perez F, et al. Among authors: goizet c. Clin Neurol Neurosurg. 2009 Jan;111(1):83-6. doi: 10.1016/j.clineuro.2008.06.021. Epub 2008 Oct 9. Clin Neurol Neurosurg. 2009. PMID: 18848389 Review.

8

Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).

Ory-Magne F, Brefel-Courbon C, Payoux P, Debruxelles S, Sibon I, Goizet C, Labauge P, Menegon P, Uro-Coste E, Ghetti B, Delisle MB, Vidal R, Rascol O. Ory-Magne F, et al. Among authors: goizet c. Mov Disord. 2009 Aug 15;24(11):1676-83. doi: 10.1002/mds.22669. Mov Disord. 2009. PMID: 19514068

9

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D, Mauguiere F, Peter L, Goizet C, Bouhour F, Denier C, Confavreux C, Obadia M, Blanc F, de Sèze J, Fogli A, Boespflug-Tanguy O. Labauge P, et al. Among authors: goizet c. Brain. 2009 Aug;132(Pt 8):2161-9. doi: 10.1093/brain/awp171. Brain. 2009. PMID: 19625339

10

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G. Goizet C, et al. Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59. Neurology. 2009. PMID: 19805727

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