Stevanin G - Search Results

1

Implication of folate deficiency in CYP2U1 loss of function.

Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: stevanin g. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.

2

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

Cancel G, Abbas N, Stevanin G, Dürr A, Chneiweiss H, Néri C, Duyckaerts C, Penet C, Cann HM, Agid Y, et al. Cancel G, et al. Among authors: stevanin g. Am J Hum Genet. 1995 Oct;57(4):809-16. Am J Hum Genet. 1995. PMID: 7573040 Free PMC article.

3

Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia.

Fontaine B, Rime CS, Hazan J, Dürr A, Stevanin G, Penet C, Reboul J, Agid Y, Lyon-Caen O, Baumann N, et al. Fontaine B, et al. Among authors: stevanin g. Neuromuscul Disord. 1995 Jan;5(1):11-7. doi: 10.1016/0960-8966(94)e0024-3. Neuromuscul Disord. 1995. PMID: 7719135

4

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.

Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A. Dubourg O, et al. Among authors: stevanin g. Ann Neurol. 1995 Feb;37(2):176-80. doi: 10.1002/ana.410370207. Ann Neurol. 1995. PMID: 7847859

5

Clinical and MRI findings in spinocerebellar ataxia type 5.

Stevanin G, Herman A, Brice A, Dürr A. Stevanin G, et al. Neurology. 1999 Oct 12;53(6):1355-7. doi: 10.1212/wnl.53.6.1355. Neurology. 1999. PMID: 10522902

6

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.

Stevanin G, Dürr A, Brice A. Stevanin G, et al. Eur J Hum Genet. 2000 Jan;8(1):4-18. doi: 10.1038/sj.ejhg.5200403. Eur J Hum Genet. 2000. PMID: 10713882 Review.

7

Zander C, Takahashi J, El Hachimi KH, Fujigasaki H, Albanese V, Lebre AS, Stevanin G, Duyckaerts C, Brice A. Zander C, et al. Among authors: stevanin g. Hum Mol Genet. 2001 Oct 15;10(22):2569-79. doi: 10.1093/hmg/10.22.2569. Hum Mol Genet. 2001. PMID: 11709544

8

Spinocerebellar ataxias caused by polyglutamine expansions.

Stevanin G, Dürr A, Brice A. Stevanin G, et al. Adv Exp Med Biol. 2002;516:47-77. doi: 10.1007/978-1-4615-0117-6_3. Adv Exp Med Biol. 2002. PMID: 12611435 Review. No abstract available.

9

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.

Takahashi J, Fujigasaki H, Iwabuchi K, Bruni AC, Uchihara T, El Hachimi KH, Stevanin G, Dürr A, Lebre AS, Trottier Y, de Thé H, Tanaka J, Hauw JJ, Duyckaerts C, Brice A. Takahashi J, et al. Among authors: stevanin g. Neurobiol Dis. 2003 Aug;13(3):230-7. doi: 10.1016/s0969-9961(03)00080-9. Neurobiol Dis. 2003. PMID: 12901837

10

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A. Stevanin G, et al. Arch Neurol. 2004 Aug;61(8):1242-8. doi: 10.1001/archneur.61.8.1242. Arch Neurol. 2004. PMID: 15313841

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