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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.
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.
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.
Stevanin G, Cancel G, Dürr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A. Stevanin G, et al. Am J Hum Genet. 1995 Jan;56(1):193-201. Am J Hum Genet. 1995. PMID: 7825578 Free PMC article.
Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.
Cancel G, Khati C, Stevanin G, Pages JC, Agid Y, Brice A, Cann HM. Cancel G, et al. Among authors: stevanin g. Hum Mol Genet. 1993 Sep;2(9):1477-9. doi: 10.1093/hmg/2.9.1477. Hum Mol Genet. 1993. PMID: 8242075 No abstract available.
SCA2 is not a major locus for ADCA type I in French families.
Cancel G, Stevanin G, Dürr A, Chneiweiss H, Penet C, Pothin Y, Agid Y, Brice A. Cancel G, et al. Among authors: stevanin g. Am J Med Genet. 1995 Oct 9;60(5):382-5. doi: 10.1002/ajmg.1320600507. Am J Med Genet. 1995. PMID: 8546150
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.
Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson GG, Chneiweiss H, Dellanave J, et al. Dürr A, et al. Among authors: stevanin g. Brain. 1995 Dec;118 ( Pt 6):1573-81. doi: 10.1093/brain/118.6.1573. Brain. 1995. PMID: 8595486
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.
Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon-Caen O, Julien J, Serdaru M, Penet C, Agid Y, Brice A. Dürr A, et al. Among authors: stevanin g. Ann Neurol. 1996 Apr;39(4):490-9. doi: 10.1002/ana.410390411. Ann Neurol. 1996. PMID: 8619527
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
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimarães J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A. Cancel G, et al. Among authors: stevanin g. Hum Mol Genet. 1997 May;6(5):709-15. doi: 10.1093/hmg/6.5.709. Hum Mol Genet. 1997. PMID: 9158145
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL, Brice A. David G, et al. Among authors: stevanin g. Nat Genet. 1997 Sep;17(1):65-70. doi: 10.1038/ng0997-65. Nat Genet. 1997. PMID: 9288099
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