Gaa Repeat Expansion | List of Frontiers open access articles

Original Research

Published on 21 Nov 2018

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

in Cellular Neuropathology

Sahar Al-Mahdawi
Heather Ging
Aurelien Bayot
Francesca Cavalcanti
Valentina La Cognata
Sebastiano Cavallaro
Paola Giunti
Mark A. Pook

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2018.00443

12,120 views
28 citations

Review

Published on 03 Jun 2014

Epigenetic-based therapies for Friedreich ataxia

in Epigenomics and Epigenetics

Chiranjeevi Sandi
Madhavi Sandi
Sara Anjomani Virmouni
Sahar Al-Mahdawi
Mark A. Pook

Frontiers in Genetics

doi 10.3389/fgene.2014.00165

17,456 views
40 citations

Original Research

Published on 05 Jun 2020

HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich’s Ataxia

in Genetics of Common and Rare Diseases

Mursal Sherzai
Adamo Valle
Nicholas Perry
Ester Kalef-Ezra
Sahar Al-Mahdawi
Mark Pook
Sara Anjomani Virmouni

Frontiers in Genetics

doi 10.3389/fgene.2020.00584

6,833 views
7 citations

Original Research

Published on 26 Jan 2023

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats

in Neurodegeneration

Ester Kalef-Ezra
Fred Jonathan Edzeamey
Adamo Valle
Hassan Khonsari
Paula Kleine
Carlo Oggianu
Sahar Al-Mahdawi
Mark A. Pook
Sara Anjomani Virmouni

Frontiers in Neuroscience

doi 10.3389/fnins.2023.930422

7,987 views
15 citations

Original Research

Published on 05 Sep 2022

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

in Molecular Diagnostics and Therapeutics

Layne N. Rodden
Christian Rummey
Yi Na Dong
Sarah Lagedrost
Sean Regner
Alicia Brocht
Khalaf Bushara
Martin B. Delatycki
Christopher M. Gomez
Katherine Mathews

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2022.933788

4,347 views
9 citations

Original Research

Published on 17 Jul 2018

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich’s Ataxia Models

in Cellular Neurophysiology

Rosella Abeti
Annalisa Baccaro
Noemi Esteras
Paola Giunti

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2018.00188

19,739 views
144 citations

Original Research

Published on 06 Sep 2018

Functional and Structural Brain Damage in Friedreich's Ataxia

in Applied Neuroimaging

Marinela Vavla
Filippo Arrigoni
Andrea Nordio
Alberto De Luca
Silvia Pizzighello
Elisa Petacchi
Gabriella Paparella
Maria Grazia D'Angelo
Erika Brighina
Emanuela Russo

Frontiers in Neurology

doi 10.3389/fneur.2018.00747

10,047 views
38 citations

Articles

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

Epigenetic-based therapies for Friedreich ataxia

HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich’s Ataxia

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich’s Ataxia Models

Functional and Structural Brain Damage in Friedreich's Ataxia