@article{25266232c9ed41819c92429256e61fe8,
title = "FXN methylation predicts expression and clinical outcome in Friedreich ataxia",
abstract = "Objective: Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN. This leads to epigenetic modifications and reduced frataxin. We investigated the relationships between genetic, epigenetic, and clinical parameters in a large case-control study of FA.",
author = "Evans-Galea, {Marguerite V} and Nissa Carrodus and Rowley, {Simone M} and Corben, {Louise Anne} and Geneieve Tai and Richard Saffery and Galati, {John C} and Wong, {Nicholas C} and Craig, {Jeffrey M} and Lynch, {David R} and Regner, {Sean R} and Brocht, {Alicia F D} and Perlman, {Susan L} and Bushara, {Khalaf O} and Gomez, {Christopher M} and Wilmot, {George R} and Lingli Li and Elizabeth Varley and Delatycki, {Martin B} and Sarsero, {Joseph P}",
year = "2012",
doi = "10.1002/ana.22671",
language = "English",
volume = "71",
pages = "487 -- 497",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley & Sons",
number = "4",
}