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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

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Science  08 Mar 1996:
Vol. 271, Issue 5254, pp. 1423-1427
DOI: 10.1126/science.271.5254.1423

Article Information

vol. 271 no. 5254 1423-1427

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Author Information

  1. Victoria Campuzano*,
  2. Laura Montermini*,
  3. Maria Dolores Moltò,
  4. Luigi Pianese,
  5. Mireille Cossée,
  6. Francesca Cavalcanti,
  7. Eugenia Monros,
  8. François Rodius,
  9. Franck Duclos§,
  10. Antonella Monticelli,
  11. Federico Zara,
  12. Joaquin Cañizares,
  13. Hana Koutnikova,
  14. Sanjay I. Bidichandani,
  15. Cinzia Gellera,
  16. Alexis Brice,
  17. Paul Trouillas,
  18. Giuseppe De Michele,
  19. Alessandro Filla,
  20. Rosa De Frutos,
  21. Francisco Palau,
  22. Pragna I. Patel,
  23. Stefano Di Donato,
  24. Jean-Louis Mandel,
  25. Sergio Cocozza,
  26. Michel Koenig,
  27. Massimo Pandolfo
  1. V. Campuzano, M. Cossée, F. Rodius, F. Duclos, H. Koutnikova, J.-L. Mandel, M. Koenig, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), INSERM, Université Louis Pasteur, CNRS, and Centre Hospitalier Universitaire, 1 Rue Laurent Fries, BP 163, 67404 Illkirch Cedex - Strasbourg, France.
  2. L. Montermini, M. D. Moltò, F. Zara, S. Bidichandani, P. I. Patel, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  3. L. Pianese, A. Monticelli, S. Cocozza, Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy.
  4. F. Cavalcanti, Istituto Mediterraneo di Neuroscienze “Sanatrix,” 86077 Pozzilli (Isernia), Italy.
  5. E. Monros and F. Palau, Unidad de Genetica, Hospital Universitari La Fe, Avenida Campanar 21, 46006 Valencia, Spain.
  6. J. Cañizares and R. De Frutos, Department de Genetica, University of Valencia, C/Dr. Moliner 50, 46100 Burjassot (Valencia), Spain.
  7. C. Gellera and S. Di Donato, Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy.
  8. A. Brice, Hôpital de la Salpetriere, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.
  9. P. Trouillas, Hôpital Neurologique, Pier Wertheimer, 69003 Lyon, France.
  10. G. De Michele and A. Filla, Dipartimento di Patologia Sistematica, Divisione di Neurologia II, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy.
  11. M. Pandolfo, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA, and Divisione di Biochimica e Genetica del Sistema Nervoso, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milan, Italy.
  1. * These authors equally contributed to this work.
  2. Permanent address: Departament de Genetica, Univer-sity of Valencia, C/Dr. Moliner 50, 46100 Burjassot (Valencia), Spain.
  3. Present address: Dipartimento di Biologia e Patologia Cellulare e Molecolare, University of Naples Federico II, and Centro Endocrinologia Oncologia Sperimentale Consiglio Nazionale delle Ricerche, Via Pansini 5, 80131 Naples, Italy.
  4. § Present address: Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, 400 Eckstein Medical Research Building, Iowa City, IA 52242, USA.
  5. To whom correspondence should be addressed.

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