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Research Article

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

  • Seval Türkmen equal contributor,

    equal contributor Contributed equally to this work with: Seval Türkmen, Gao Guo

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Gao Guo equal contributor,

    equal contributor Contributed equally to this work with: Seval Türkmen, Gao Guo

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Masoud Garshasbi,

    Affiliations: Max Planck Institute for Molecular Genetics, Berlin, Germany, Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

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  • Katrin Hoffmann,

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Amjad J. Alshalah,

    Affiliation: University of Babylon, Babylon, Iraq

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  • Claudia Mischung,

    Affiliation: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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  • Andreas Kuss,

    Affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany

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  • Nicholas Humphrey,

    Affiliation: Centre for Philosophy of Natural and Social Science, London School of Economics, London, United Kingdom

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  • Stefan Mundlos,

    Affiliations: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany

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  • Peter N. Robinson mail

    peter.robinson@charite.de

    Affiliations: Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany

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  • Published: May 22, 2009
  • DOI: 10.1371/journal.pgen.1000487

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