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Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

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References

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Ethical standards

All examinations were done after obtaining written consent from the parents, comply with the current law, and a regional ethical board approved the study.

Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, 50931, Cologne, Germany

    Dennis Lal, Kerstin Becker, Susanne Motameny, Janine Altmüller, Holger Thiele & Peter Nürnberg

  2. Institute of Clinical Chemistry, Molecular Diagnostics, and Mitochondrial Genetics, Kölner Platz 1, 80804, Munich, Germany

    Uwe Ahting

  3. Elblab Zentrum für LaborMedizin, Elblandkliniken, Weinbergweg 8, 01589, Riesa, Germany

    Boris Rolinski

  4. Department of Child Neurology, University of Giessen, Feulgenstr. 10-12, 35392, Giessen, Germany

    Dennis Lal, Bernd A. Neubauer & Andreas Hahn

  5. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany

    Peter Nürnberg

  6. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany

    Dennis Lal, Kerstin Becker & Peter Nürnberg

  7. Department of Child Neurology, Justus-Liebig-University, Feulgenstr. 10-12, 35392, Giessen, Germany

    Andreas Hahn

Authors
  1. Dennis Lal
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  2. Kerstin Becker
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  3. Susanne Motameny
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  4. Janine Altmüller
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  5. Holger Thiele
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  6. Peter Nürnberg
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  7. Uwe Ahting
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  8. Boris Rolinski
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  9. Bernd A. Neubauer
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  10. Andreas Hahn
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Corresponding author

Correspondence to Andreas Hahn.

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Lal, D., Becker, K., Motameny, S. et al. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics 14, 85–87 (2013). https://doi.org/10.1007/s10048-013-0355-z

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  • DOI: https://doi.org/10.1007/s10048-013-0355-z

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