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50篇 您的检索式:作者名="Stevanin"
    题名 作者 年代 出处 被引量
1Huntington' disease-like phenotype due to trinucleotide repeat expansions in the TBP andJPH3 genes显示文摘Stevanin G Fujigasaki H Lebre A 2003Brain2003,126,:1
2De novo expansion of intermediate alleles in spinocerebellar ataxia 7显示文摘 Giunti P David G 1998Hum Molec Genet1998,7,:1
3Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type 1 linked to the SCA 2 locus显示文摘Bürk K Stevanin G Didierjean O 1997J Neurol1997,244,4:1
4Mutationsin voltage-gated potassium channel KCNC3 causedegenerative and developmental central nervous system phenotypes显示文摘Waters MF Minassian NA Stevanin G 2006Nat Genet2006,38,4:1
5Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2 p显示文摘Stevanin G Bouslam N Thobois S 2004Ann Neurol2004,55,1:1
6Spinocerebellar ataxia 3 and Machado -Joseph disease : clinical,molecular, and neuropathological features 显示文摘Durr A Stevanin G Cancel G 1996Ann Neurol1996,39,4:1
7Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus 显示文摘Cancel G Abbas N Stevanin G 1995Am J Hum Genet1995,57,4:1
8Fe/Sprotein assembly gene IBA57 mutation causes heredi-tary spastic paraplegia 显示文摘LOSSOS A STUMPFIG C STEVANIN G 2015Neurology2015,84,7:1
9Clinical and molecular advances in autosomal dominant eerebellar ataxias: from genotype to phenotype and physiopathology显示文摘Stevanin G Durr A Briee A 2000EurJ Hum Genet2000,8,:1
10Spinoeerehellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuro- pathological features显示文摘Dürr A Stevanin G Cancel G 1996Ann Neurol1996,39,4:1
11Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?显示文摘P Charles A Camuzat N Benammar F Sellal A Destée A-M Bonnet S Lesage I Le Ber G Stevanin A Dürr A Brice 2007Neurology2007,,21:1
12Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes显示文摘Waters MF Minassian NA Stevanin G 2006Nat Genet2006,38,:1
13Spinocerebellar ataxias caused by polyglutamine expansions显示文摘G Stevanin A Durr A Brice 2002Adv Exp Med Biol2002,516,:1
14Hereditary spastic paraplegias: an update显示文摘Depienne C Stevanin G Brice A 2007Curr Opin Neurol2007,20,6:1
15Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p显示文摘Stevanin G Bouslam N Thobois S 2004Ann Neurol2004,55,1:1
16Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1linked to the SCA2 locus显示文摘S. Belal G. Cancel G. Stevanin F. Hentati C. Khati C. Ben Hamida G. Auburger Y. Agid M. Ben Hamida A. Brice 1994Neurology1994,,8:1
17Analysis of Nitric Oxide-Dependent Antimicrobia/Actions in Macrophages and Mice 显示文摘Andr s Vazquez-Torres Tania Stevanin Jessica Jones-Carson 2008Methods in Enzymology2008,437,:1
18Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p 显示文摘Stevanin G Bousiam N Thobois S 2004Ann Neurol2004,55,1:1
19Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion 显示文摘DAVID G ABBAS N STEVANIN G 1997Nat Genet1997,17,1:1
20Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p 显示文摘Stevanin G Bouslam N Thobois S 2004Ann Neurol2004,55,1:1
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