Heterozygous mutation in 5?-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia-Reference-Cited by-同舟云学术

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Heterozygous mutation in 5?-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Published:2004-07-06 Issue:3 Volume:5 Page:187-190
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Steinberger Daniela,Blau Nenad,Goriuonov Dimitri,Bitsch Juliane,Zuker Michael,Hummel Sibylla,M�ller Ulrich

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-004-0182-3.pdf

Reference12 articles.

1. Müller U, Steinberger D, Nemeth AH (1998) Clinical and molecular genetics of primary dystonias. Neurogenetics 1:165?177

2. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, Leon D de, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO (1997) The early-onset torsion dystonia gene ( DYT1) encodes an ATP-binding protein. Nat Genet 17:40?48

3. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8:236?242

4. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T (2001) Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 29:66?69

5. Nolte D, Niemann S, Müller U (2003) Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. Proc Natl Acad Sci USA 100:10347?10352

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