Effect of diazoxide on Friedreich ataxia models-Reference-Cited by-同舟云学术

Effect of diazoxide on Friedreich ataxia models

Published:2018-01-08 Issue:6 Volume:27 Page:992-1001
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Santoro Antonella¹,Anjomani Virmouni Sara²,Paradies Eleonora¹,Villalobos Coa Valentina L³,Al-Mahdawi Sahar²,Khoo Mee²,Porcelli Vito³,Vozza Angelo³,Perrone Mara⁴,Denora Nunzio⁴,Taroni Franco⁵,Merla Giuseppe⁶,Palmieri Luigi¹³,Pook Mark A²,Marobbio Carlo M T³^ORCID

Affiliation:

1. Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Consiglio Nazionale delle Ricerche, 70126 Bari, Italy

2. Department of Life Sciences, College of Health & Life Sciences, Brunel University London, Uxbridge UB8 3PH, UK

3. Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70125 Bari, Italy

4. Department of Pharmacy – Drug Sciences, University of Bari, 70125 Bari, Italy

5. Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS-Istituto Neurologico Carlo Besta, 20133 Milan, Italy

6. Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni, Rotondo, Italy

Funder

Friedreich's Ataxia Research Alliance

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/6/992/24231778/ddy016.pdf

Reference49 articles.

1. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996

2. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia;Filla;Am. J. Hum. Genet,1996

3. GAA expansion size and age at onset of Friedreich’s ataxia;Mateo;Neurology,2003

4. Iron trafficking in the mitochondrion: novel pathways revealed by disease;Napier;Blood,2005

5. Clinical and genetic abnormalities in patients with Friedreich’s ataxia;Dürr;N. Engl. J. Med,1996

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