A conserved sorting-associated protein is mutant in chorea-acanthocytosis (original) (raw)

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Acknowledgements

We thank R. Hardie for collecting samples of families CHAC1 and CHAC9, E. Levy for fluorescence in situ hybridization analysis, S. Humphray for support in physical mapping and D. Higgs for providing K562 cell line RNA. This work was supported by the Wellcome Trust. L.R. is supported by a postdoctoral fellowship of the Italian Telethon and by a fellowship of the University of Padua. J.P.R. is a postdoctoral fellow of the CRC for the Discovery of Genes for Common Human Diseases, which is established and supported by the Australian Government's Co-operative Research Centre's Scheme. N.W.W. is supported by MR C program grant G9706148. J.V. and M.P.-V. are supported by grant 2P01 NS26630. A.P.M. is a Wellcome Trust Principal Research Fellow.

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Authors and Affiliations

  1. The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, United Kingdom
    Luca Rampoldi, Carol Dobson-Stone, Andrea H. Németh & Anthony P. Monaco
  2. The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia
    Justin P. Rubio
  3. Neurologische Klinik, Ludwig-Maximilians-Universitãt, Munich, Germany
    Adrian Danek
  4. Department of Clinical Neurology, Institute of Neurology, London, United Kingdom
    Richard M. Chalmers & Nicholas W. Wood
  5. Unité de Génétique Médicale, Brussels, Belgium
    Christine Verellen
  6. Hôpital du Haut-Lèveque, Centre Hospitalier Universitaire, Bordeaux, France
    Xavier Ferrer
  7. Istituto di Scienze Neurologiche, Siena, Italy
    Alessandro Malandrini
  8. Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy
    Gian M. Fabrizi
  9. Cecil B. Day Laboratory for Muscle Research, Charlestown, Massachusetts, USA
    Robert Brown
  10. Duke University Medical Centre, Durham, North Carolina, USA
    Jeffery Vance & Margaret Pericak-Vance
  11. Hôpitaux Universitaires, Strasbourg, France
    Gabrielle Rudolf & Sophie Carrè
  12. Department of Genetics, National Institute of Neurology and Neurosurgery Manuel Velasco Suarez, Mexico City, Mexico
    Elisa Alonso
  13. Casa di Cura Poliambulanza Neurologica, Brescia, Italy
    Michela Manfredi
  14. Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom
    Andrea H. Németh

Authors

  1. Luca Rampoldi
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  2. Carol Dobson-Stone
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  3. Justin P. Rubio
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  4. Adrian Danek
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  5. Richard M. Chalmers
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  6. Nicholas W. Wood
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  7. Christine Verellen
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  8. Xavier Ferrer
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  9. Alessandro Malandrini
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  10. Gian M. Fabrizi
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  11. Robert Brown
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  12. Jeffery Vance
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  13. Margaret Pericak-Vance
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  14. Gabrielle Rudolf
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  15. Sophie Carrè
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  16. Elisa Alonso
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  17. Michela Manfredi
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  18. Andrea H. Németh
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  19. Anthony P. Monaco
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Corresponding author

Correspondence toAnthony P. Monaco.

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Rampoldi, L., Dobson-Stone, C., Rubio, J. et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis.Nat Genet 28, 119–120 (2001). https://doi.org/10.1038/88821

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