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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

About the Authors

Seval Türkmen, Gao Guo, Katrin Hoffmann, Claudia Mischung, Stefan Mundlos, Peter N. Robinson
Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany
Masoud Garshasbi, Andreas Kuss, Stefan Mundlos
Max Planck Institute for Molecular Genetics, Berlin, Germany
Masoud Garshasbi
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Amjad J. Alshalah
University of Babylon, Babylon, Iraq
Nicholas Humphrey
Centre for Philosophy of Natural and Social Science, London School of Economics, London, United Kingdom
Stefan Mundlos, Peter N. Robinson
Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany

Corresponding Author

Email: peter.robinson@charite.de

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: ST GG NH SM PNR. Performed the experiments: GG MG CM. Analyzed the data: ST GG MG KH AK PNR. Contributed reagents/materials/analysis tools: AJA NH. Wrote the paper: ST GG PNR.