FXN methylation predicts expression and clinical outcome in Friedreich ataxia

Marguerite V Evans-Galea, Nissa Carrodus, Simone M Rowley, Louise Anne Corben, Geneieve Tai, Richard Saffery, John C Galati, Nicholas C Wong, Jeffrey M Craig, David R Lynch, Sean R Regner, Alicia F D Brocht, Susan L Perlman, Khalaf O Bushara, Christopher M Gomez, George R Wilmot, Lingli Li, Elizabeth Varley, Martin B Delatycki, Joseph P Sarsero

Research output: Contribution to journalArticleResearchpeer-review

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.
Original languageEnglish
Pages (from-to)487 - 497
Number of pages11
JournalAnnals of Neurology
Volume71
Issue number4
DOIs
Publication statusPublished - 2012

Cite this

Evans-Galea, M. V., Carrodus, N., Rowley, S. M., Corben, L. A., Tai, G., Saffery, R., ... Sarsero, J. P. (2012). FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Annals of Neurology, 71(4), 487 - 497. https://doi.org/10.1002/ana.22671
Evans-Galea, Marguerite V ; Carrodus, Nissa ; Rowley, Simone M ; Corben, Louise Anne ; Tai, Geneieve ; Saffery, Richard ; Galati, John C ; Wong, Nicholas C ; Craig, Jeffrey M ; Lynch, David R ; Regner, Sean R ; Brocht, Alicia F D ; Perlman, Susan L ; Bushara, Khalaf O ; Gomez, Christopher M ; Wilmot, George R ; Li, Lingli ; Varley, Elizabeth ; Delatycki, Martin B ; Sarsero, Joseph P. / FXN methylation predicts expression and clinical outcome in Friedreich ataxia. In: Annals of Neurology. 2012 ; Vol. 71, No. 4. pp. 487 - 497.
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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}",
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doi = "10.1002/ana.22671",
language = "English",
volume = "71",
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Evans-Galea, MV, Carrodus, N, Rowley, SM, Corben, LA, Tai, G, Saffery, R, Galati, JC, Wong, NC, Craig, JM, Lynch, DR, Regner, SR, Brocht, AFD, Perlman, SL, Bushara, KO, Gomez, CM, Wilmot, GR, Li, L, Varley, E, Delatycki, MB & Sarsero, JP 2012, 'FXN methylation predicts expression and clinical outcome in Friedreich ataxia' Annals of Neurology, vol. 71, no. 4, pp. 487 - 497. https://doi.org/10.1002/ana.22671

FXN methylation predicts expression and clinical outcome in Friedreich ataxia. / Evans-Galea, Marguerite V; Carrodus, Nissa; Rowley, Simone M; Corben, Louise Anne; Tai, Geneieve; Saffery, Richard; Galati, John C; Wong, Nicholas C; Craig, Jeffrey M; Lynch, David R; Regner, Sean R; Brocht, Alicia F D; Perlman, Susan L; Bushara, Khalaf O; Gomez, Christopher M; Wilmot, George R; Li, Lingli; Varley, Elizabeth; Delatycki, Martin B; Sarsero, Joseph P.

In: Annals of Neurology, Vol. 71, No. 4, 2012, p. 487 - 497.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - FXN methylation predicts expression and clinical outcome in Friedreich ataxia

AU - Evans-Galea, Marguerite V

AU - Carrodus, Nissa

AU - Rowley, Simone M

AU - Corben, Louise Anne

AU - Tai, Geneieve

AU - Saffery, Richard

AU - Galati, John C

AU - Wong, Nicholas C

AU - Craig, Jeffrey M

AU - Lynch, David R

AU - Regner, Sean R

AU - Brocht, Alicia F D

AU - Perlman, Susan L

AU - Bushara, Khalaf O

AU - Gomez, Christopher M

AU - Wilmot, George R

AU - Li, Lingli

AU - Varley, Elizabeth

AU - Delatycki, Martin B

AU - Sarsero, Joseph P

PY - 2012

Y1 - 2012

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AB - 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.

UR - http://onlinelibrary.wiley.com/doi/10.1002/ana.22671/pdf

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DO - 10.1002/ana.22671

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EP - 497

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