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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

The New England journal of medicine, 2023-01, Vol.388 (2), p.128-141

2023

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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

American journal of human genetics, 2023-01, Vol.110 (1), p.105-119

2023

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Mechanisms of Mitochondrial Iron-Sulfur Protein Biogenesis

Annual review of biochemistry, 2020-06, Vol.89 (1), p.471-499

2020

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The inherited cerebellar ataxias: an update

Journal of neurology, 2023-01, Vol.270 (1), p.208-222

2023

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The Autosomal Recessive Cerebellar Ataxias

The New England journal of medicine, 2012-02, Vol.366 (7), p.636-646

2012

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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Genome Biology, 2020-04, Vol.21 (1), p.102-14, Article 102

2020

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Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia

Molecular therapy, 2018-08, Vol.26 (8), p.1940-1952

2018

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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Lancet neurology, 2016-12, Vol.15 (13), p.1346-1354

2016

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The role of oxidative stress in Friedreich's ataxia

FEBS letters, 2018-03, Vol.592 (5), p.718-727

2018

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Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia

Scientific reports, 2016-02, Vol.6 (1), p.20019, Article 20019

2016

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Frataxin deficiency promotes endothelial senescence in pulmonary hypertension

The Journal of clinical investigation, 2021-06, Vol.131 (11), p.1-17

2021

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Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

Texas Heart Institute journal, 2016-08, Vol.43 (4), p.305-310

2016

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Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Journal of the neurological sciences, 2011-04, Vol.303 (1), p.1-12

Koeppen, Arnulf H

2011

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Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

Nature medicine, 2014-05, Vol.20 (5), p.542-547

2014

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Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

Neurology, 2018-09, Vol.91 (10), p.e917

2018

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Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol

Proceedings of the National Academy of Sciences - PNAS, 2010-06, Vol.107 (24), p.10775-10782

2010

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A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia

Cerebellum (London, England), 2024-04, Vol.23 (2), p.775-777

2024

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Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Movement disorders, 2023-08, Vol.38 (8), p.1575-1577

2023

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Friedreich Ataxia: Neuropathology Revised

Journal of neuropathology and experimental neurology, 2013-02, Vol.72 (2), p.78-90

2013

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R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome

PLoS genetics, 2014-05, Vol.10 (5), p.e1004318-e1004318

2014

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Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia

Neurotherapeutics, 2019-10, Vol.16 (4), p.1032-1049

Gottesfeld, Joel M.

2019

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Clinical Features of Friedreich Ataxia

Journal of child neurology, 2012-09, Vol.27 (9), p.1133-1137

2012

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FXN gene methylation determines carrier status in Friedreich ataxia

Journal of medical genetics, 2023-08, Vol.60 (8), p.797-800

2023

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Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions

Movement disorders, 2024-06, Vol.39 (6), p.1081-1082

2024

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

Mechanisms of Mitochondrial Iron-Sulfur Protein Biogenesis

The inherited cerebellar ataxias: an update

The Autosomal Recessive Cerebellar Ataxias

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

The role of oxidative stress in Friedreich's ataxia

Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia

Frataxin deficiency promotes endothelial senescence in pulmonary hypertension

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol

A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia

Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Friedreich Ataxia: Neuropathology Revised

R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome

Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia

Clinical Features of Friedreich Ataxia

FXN gene methylation determines carrier status in Friedreich ataxia

Advancing Understanding of Predictive Factors for Survival in Friedreich's Ataxia: A Review of Current Evidence and Future Directions

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