%0 Journal Article
%T A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design
%A Francesco Sacc¨¤
%A Giorgia Puorro
%A Antonella Antenora
%A Angela Marsili
%A Alessandra Denaro
%A Raffaele Piro
%A Pierpaolo Sorrentino
%A Chiara Pane
%A Alessandra Tessa
%A Vincenzo Brescia Morra
%A Sergio Cocozza
%A Giuseppe De Michele
%A Filippo M. Santorelli
%A Alessandro Filla
%J PLOS ONE
%D 2012
%I Public Library of Science (PLoS)
%R 10.1371/journal.pone.0017627
%X Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large cohort of FRDA patients, carriers and controls.
%U http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0017627