Marguerite Evans-Galea

DEVELOPING CELL AND GENE THERAPY TO TREAT FRIEDREICH ATAXIA

Sze Hwee Ong, Dong C Zhang, Chou H Sim, M Burton, Dean Phelan, Sarah EM Stephenson, Gabrielle R Wilson, Donald F Newgreen, Anthony J Hannan, Paul J Lockhart, Martin B Delatycki, Marguerite V Evans-Galea

Conference Proceedings  |  2018  |  JOURNAL OF GENE MEDICINE

Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

Duncan E Crombie, Claire L Curl, Antonia JA Raaijmakers, Priyadharshini Sivakumaran, Tejal Kulkarni, Raymond CB Wong, Itsunari Minami, Marguerite V Evans-Galea, Shiang Y Lim, Lea Delbridge, Louise A Corben, Mirella Dottori, Norio Nakatsuji, Ian A Trounce, Alex W Hewitt, Martin B Delatycki, Martin F Pera, Alice Pebay

Journal article  |  2017  |  AGING-US

We sought to identify the impacts of Friedreich's ataxia (FRDA) on cardiomyocytes. FRDA is an autosomal recessive degenerative con..

FRIEDREICH ATAXIA

Louise A Corben, Eppie M Yiu, Marguerite V Evans-Galea, Martin B Delatycki

Book Chapter  |  2017

Friedreich ataxia

LA Corben, EM Yiu, MV Evans-Galea, MB Delatycki

Book Chapter  |  2016

Compound Heterozygous FXN Mutations and Clinical Outcome in Friedreich Ataxia

Charles A Galea, Aamira Huq, Paul J Lockhart, Geneieve Tai, Louise A Corben, Eppie M Yiu, Lyle C Gurrin, David R Lynch, Sarah Gelbard, Alexandra Durr, Francoise Pousset, Michael Parkinson, Robyn Labrum, Paola Giunti, Susan L Perlman, Martin B Delatycki, Marguerite V Evans-Galea

Journal article  |  2016  |  ANNALS OF NEUROLOGY

OBJECTIVE: Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygo..

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Eppie M Yiu, Geneieve Tai, Roger E Peverill, Katherine J Lee, Kevin D Croft, Trevor A Mori, Barbara Scheiber-Mojdehkar, Brigitte Sturm, Monika Praschberger, Adam P Vogel, Gary Rance, Sarah EM Stephenson, Joseph P Sarsero, Creina Stockley, Chung-Yung J Lee, Andrew Churchyard, Marguerite V Evans-Galea, Monique M Ryan, Paul J Lockhart, Louise A Corben, et al.

Journal article  |  2015  |  JOURNAL OF NEUROLOGY

Friedreich ataxia (FRDA) is due to a triplet repeat expansion in FXN, resulting in deficiency of the mitochondrial protein frataxi..

Cell and Gene Therapy for Friedreich Ataxia: Progress to Date

Marguerite V Evans-Galea, Alice Pebay, Mirella Dottori, Louise A Corben, Sze Hwee Ong, Paul J Lockhart, Martin B Delatycki

Journal article  |  2014  |  HUMAN GENE THERAPY

Neurodegenerative disorders such as Friedreich ataxia (FRDA) present significant challenges in developing effective therapeutic in..

HFE p.C282Y Heterozygosity Is Associated With Earlier Disease Onset in Friedreich Ataxia

Martin B Delatycki, Geneieve Tai, Louise Corben, Eppie M Yiu, Marguerite V Evans-Galea, Sarah EM Stephenson, Lyle Gurrin, Katrina J Allen, David Lynch, Paul J Lockhart

Journal article  |  2014  |  MOVEMENT DISORDERS

BACKGROUND: Friedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism...

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.

Marguerite V Evans-Galea, Paul J Lockhart, Charles A Galea, Anthony J Hannan, Martin B Delatycki

Journal article  |  2014  |  Discov Med

Friedreich ataxia (FRDA) is a devastating neurodegenerative disease caused by mutations in the frataxin gene (FXN). Frataxin is an..

lBeyond Loss of Frataxin: the Complex Molecular Pathology of Friedreich Ataxia

MArguerite V Evans-Galea, Paul J Lockhart, Charles A Galea, Anthony J Hannan, Martin B Delatycki

Journal article  |  2014  |  DISCOVERY MEDICINE