Gourfinkel-An I - Search Results

1

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E. Baulac S, et al. Nat Genet. 2001 May;28(1):46-8. doi: 10.1038/ng0501-46. Nat Genet. 2001. PMID: 11326274

2

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

Stevanin G, Trottier Y, Cancel G, Dürr A, David G, Didierjean O, Bürk K, Imbert G, Saudou F, Abada-Bendib M, Gourfinkel-An I, Benomar A, Abbas N, Klockgether T, Grid D, Agid Y, Mandel JL, Brice A. Stevanin G, et al. Hum Mol Genet. 1996 Dec;5(12):1887-92. doi: 10.1093/hmg/5.12.1887. Hum Mol Genet. 1996. PMID: 8968739

3

Differential distribution of the normal and mutated forms of huntingtin in the human brain.

Gourfinkel-An I, Cancel G, Trottier Y, Devys D, Tora L, Lutz Y, Imbert G, Saudou F, Stevanin G, Agid Y, Brice A, Mandel JL, Hirsch EC. Gourfinkel-An I, et al. Ann Neurol. 1997 Nov;42(5):712-9. doi: 10.1002/ana.410420507. Ann Neurol. 1997. PMID: 9392570

4

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease.

Cancel G, Gourfinkel-An I, Stevanin G, Didierjean O, Abbas N, Hirsch E, Agid Y, Brice A. Cancel G, et al. Hum Mutat. 1998;11(1):23-7. doi: 10.1002/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M. Hum Mutat. 1998. PMID: 9450899

5

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

Holmberg M, Duyckaerts C, Dürr A, Cancel G, Gourfinkel-An I, Damier P, Faucheux B, Trottier Y, Hirsch EC, Agid Y, Brice A. Holmberg M, et al. Hum Mol Genet. 1998 May;7(5):913-8. doi: 10.1093/hmg/7.5.913. Hum Mol Genet. 1998. PMID: 9536097

6

Neuronal distribution of intranuclear inclusions in Huntington's disease with adult onset.

Gourfinkel-An I, Cancel G, Duyckaerts C, Faucheux B, Hauw JJ, Trottier Y, Brice A, Agid Y, Hirsch EC. Gourfinkel-An I, et al. Neuroreport. 1998 Jun 1;9(8):1823-6. doi: 10.1097/00001756-199806010-00028. Neuroreport. 1998. PMID: 9665608

7

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E. Baulac S, et al. Am J Hum Genet. 1999 Oct;65(4):1078-85. doi: 10.1086/302593. Am J Hum Genet. 1999. PMID: 10486327 Free PMC article.

8

Metabolic changes in the basal ganglia of patients with Huntington's disease: an in situ hybridization study of cytochrome oxidase subunit I mRNA.

Gourfinkel-An I, Vila M, Faucheux B, Duyckaerts C, Viallet F, Hauw JJ, Brice A, Agid Y, Hirsch EC. Gourfinkel-An I, et al. J Neurochem. 2002 Feb;80(3):466-76. doi: 10.1046/j.0022-3042.2001.00734.x. J Neurochem. 2002. PMID: 11905993 Free article.

9

Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice.

Gourfinkel-An I, Parain K, Hartmann A, Mangiarini L, Brice A, Bates G, Hirsch EC. Gourfinkel-An I, et al. J Neurochem. 2003 Sep;86(6):1369-78. doi: 10.1046/j.1471-4159.2003.01916.x. J Neurochem. 2003. PMID: 12950446 Free article.

10

Monogenic idiopathic epilepsies.

Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E. Gourfinkel-An I, et al. Lancet Neurol. 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. Lancet Neurol. 2004. PMID: 15039033 Review.

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