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

Author:

Campuzano Victoria1,Montermini Laura2,Moltò Maria Dolores2,Pianese Luigi3,Cossée Mireille1,Cavalcanti Francesca4,Monros Eugenia5,Rodius François1,Duclos Franck1,Monticelli Antonella3,Zara Federico2,Cañizares Joaquin6,Koutnikova Hana1,Bidichandani Sanjay I.2,Gellera Cinzia7,Brice Alexis8,Trouillas Paul9,De Michele Giuseppe10,Filla Alessandro10,De Frutos Rosa6,Palau Francisco5,Patel Pragna I.2,Di Donato Stefano7,Mandel Jean-Louis1,Cocozza Sergio3,Koenig Michel1,Pandolfo Massimo11

Affiliation:

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference49 articles.

1. BASIC LOCAL ALIGNMENT SEARCH TOOL;ALTSCHUL F. S.;JOURNAL OF MOLECULAR BIOLOGY,1990

2. IDENTIFICATION AND CHARACTERIZATION OF THE GENE CAUSING TYPE-1 SPINOCEREBELLAR ATAXIA;BANFI S;NATURE GENETICS,1994

3. TRINUCLEOTIDE REPEAT EXPANSIONS AND HUMAN GENETIC-DISEASE;BATES G;BIOESSAYS,1994

4. BIDICHANDANI I. S. unpublished data.

5. CAMPUZANO V unpublished data.

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