Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion-Reference-Cited by-同舟云学术

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

Published:1996-03-08 Issue:5254 Volume:271 Page:1423-1427
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

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.

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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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