Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data – PubMed (nih.gov)
Annals of clinical and translational neurology vol. 11,1 (2024): 4-16. doi:10.1002/acn3.51897

Friedreich’s Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure – PubMed (nih.gov)
Neurology. Clinical practice, 13(5), e200180. https://doi.org/10.1212/CPJ.0000000000200180

Predictors of Survival in Friedreich’s Ataxia: A Prospective Cohort Study- PubMed (nih.gov)
Mov Disord. 2023 Dec 23. doi: 10.1002/mds.29687. Epub ahead of print. PMID: 38140802.

A Novel Metric for Predicting Severity of Disease Features in Friedreich’s Ataxia – PubMed (nih.gov)
Disorder Society, 38(6), 970–977. doi.org/10.1002/mds.29370

Patient-Reported Impact of Symptoms in Friedreich Ataxia – PubMed (nih.gov)
Neurology, 100(8), e808–e821.  doi.org/10.1212/WNL.0000000000201598

Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia – PubMed (nih.gov)
Ann Clin Transl Neurol. 2023 Aug;10(8):1397-1406. doi: 10.1002/acn3.51830. Epub 2023 Jun 19. PMID: 37334854; PMCID: PMC10424660.

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia – PubMed (nih.gov)
Frontiers in molecular biosciences, 9, 933788. doi.org/10.3389/fmolb.2022.933788

Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design – PubMed (nih.gov)
Neurology, 99(14), e1499–e1510. doi.org/10.1212/WNL.0000000000200913

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset – PMC (nih.gov)
Annals of clinical and translational neurology vol. 10,11 (2023): 2000-2012. doi:10.1002/acn3.51886


Friedreich’s Ataxia related Diabetes: Epidemiology and management practices
doi: 10.1016/j.diabres.2022.109828. Epub 2022 Mar 14.

Hsa-miR223-3p circulating level is upregulated in Friedreich’s ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1 – PubMed (nih.gov)
Human molecular genetics, 31(12), 2010–2022. doi.org/10.1093/hmg/ddac005

Prediction of the disease course in Friedreich ataxia – PubMed (nih.gov)
Sci Rep. 2022 Nov 10;12(1):19173. doi: 10.1038/s41598-022-23666-z. PMID: 36357508; PMCID: PMC9649725.

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases – PubMed (nih.gov) 
Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. PMID: 36371255; PMCID: PMC9652828.


Scoliosis in Friedreich’s ataxia: longitudinal characterization in a large heterogeneous cohort
Ann Clin Transl Neurol. 2021 Jun;8(6):1239-1250. doi: 10.1002/acn3.51352. Epub 2021 May 5.

Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study – PubMed (nih.gov)
Mov Disord Clin Pract. 2020 Dec 21;8(1):85-91. doi: 10.1002/mdc3.13126.

Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial – PubMed (nih.gov)
ALCAT Study Group.JAMA Netw Open. 2021 Dec 1;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841.

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study) – PubMed (nih.gov)
Ann Neurol. 2021 Feb;89(2):212-225. doi: 10.1002/ana.25934. Epub 2020 Nov 5. PMID: 33068037; PMCID: PMC7894504.

A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia | Nature Medicine.
2021 Aug 16. DOI: https://doi.org/10.21203/rs.3.rs-737100/v1

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study – PubMed (nih.gov)
Lancet Neurol. 2021 May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2.

The European Reference Network for Rare Neurological Diseases – PubMed (nih.gov)
The European Reference Network for Rare Neurological Diseases. Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. PMID: 33519696; PMCID: PMC7840612.


Test-retest reliability of the Friedreich’s ataxia rating scale
Ann Clin Transl Neurol. 2020 Sep;7(9):1708-1712. doi: 10.1002/acn3.51118. Epub 2020 Aug 11.

Predictors of loss of ambulation in Friedreich’s ataxia
EClinicalMedicine. 2020 Jan 8;18:100213. doi: 10.1016/j.eclinm.2019.11.006. eCollection 2020 Jan.

Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia
J Neuroophthalmol. 2020 Jan 17. doi: 10.1097/WNO.0000000000000878. [Epub ahead of print]

Onset features and time to diagnosis in Friedreich’s Ataxia – PubMed (nih.gov)
Orphanet J Rare Dis. 2020 Aug 3;15(1):198. doi: 10.1186/s13023-020-01475-9.

NfL and pNfH are increased in Friedreich’s ataxia – PubMed (nih.gov)
J Neurol. 2020 May;267(5):1420-1430. doi: 10.1007/s00415-020-09722-6.

Predictors of Left Ventricular Dysfunction in Friedreich’s Ataxia in a 16-Year Observational Study | American Journal of Cardiovascular Drugs (springer.com)
Am J Cardiovasc Drugs. 2020 Apr;20(2):209-216. doi: 10.1007/s40256-019-00375-z.

Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort – PubMed (nih.gov)
Neurol Genet. 2020 Mar 20;6(3):e415. doi: 10.1212/NXG.0000000000000415.

Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival | Human Molecular Genetics | Oxford Academic (oup.com)
2020 Feb 1;29(3):471-482. doi: 10.1093/hmg/ddz306. PMID: 31943004.


Psychometric properties of the Friedreich Ataxia Rating Scale
Neurol Genet. 2019 Oct 29;5(6):371. doi: 10.1212/NXG.0000000000000371. eCollection 2019 Dec.

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort
J Neurol Sci. 2020 Mar 15;410:116642. doi: 10.1016/j.jns.2019.116642. Epub 2019 Dec 24.

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) – PubMed (nih.gov)
Neurol Res Pract. 2019 Oct 15;1:33. doi: 10.1186/s42466-019-0038-9.

Patient‐reported outcomes in Friedreich’s ataxia after withdrawal from idebenone – Cook – 2019 – Acta Neurologica Scandinavica – Wiley Online Library.
Acta Neurol Scand. 2019 Jun;139(6):533-539. doi: 10.1111/ane.13088.

Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template | The Cerebellum (springer.com)
Cerebellum. 2019 Jun;18(3):435-447. doi: 10.1007/s12311-019-1008-z.

Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study – PubMed (nih.gov)
Neurol Neurosurg Psychiatry. 2019 May;90(5):615-617. doi: 10.1136/jnnp-2018-318422.

Analysis of Friedreich’s ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures – ScienceDirect
Informatics in Medicine Unlocked. 2019 17; 100266. doi: 10.1016/j.imu.2019.100266


Longitudinal analysis of contrast acuity in Friedreich ataxia
Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug.

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia
J Child Neurol. 2018 May;33(6):397-404. doi: 10.1177/0883073818764941. Epub 2018 Apr 2.

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients
Hum Mol Genet. 2018 Sep 1;27(17):2965-2977. doi: 10.1093/hmg/ddy198.

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare – PubMed (nih.gov)
Frontiers in cellular neuroscience, 12, 443. https://doi.org/10.3389/fncel.2018.00443

Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia – PubMed (nih.gov)
Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366

Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises – PubMed (nih.gov)
Neuroeng Rehabil. 2018 Oct 4;15(1):87. doi: 10.1186/s12984-018-0430-7.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) – PubMed (nih.gov)
Neurology. 2018 Sep 4;91(10):e917-e930. doi: 10.1212/WNL.0000000000006121

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements – PubMed (nih.gov)
J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):559-565. doi: 10.1136/jnnp-2017-316964.


Impact of diabetes in the Friedreich ataxia clinical outcome measures study
Ann Clin Transl Neurol. 2017 Jul 26;4(9):622-631. doi: 10.1002/acn3.439. eCollection 2017 Sep.

Clinical and genetic studies in autosomal recessive ataxias – UCL Discovery  
Doctoral thesis, UCL (University College London).


Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency
J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12.

Progression of Friedreich ataxia: quantitative characterization over 5 years
Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. eCollection 2016 Sep.

Geographic and Sociodemographic Features of Friedreich Ataxia: Implications for Clinical Research.
Journal of Rare Disorders. 2016. Vol 4, Issue 1

Cognition in Friedreich’s ataxia: a behavioral and multimodal imaging study – PubMed (nih.gov)
Ann Clin Transl Neurol. 2016 Jun 21;3(8):572-87. doi: 10.1002/acn3.315.

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study – PubMed (nih.gov)
Lancet Neurol. 2016 Dec;15(13):1346-1354. doi: 10.1016/S1474-4422(16)30287-3.


Frataxin levels in peripheral tissue in Friedreich ataxia
Ann Clin Transl Neurol. 2015 Aug;2(8):831-42. doi: 10.1002/acn3.225. Epub 2015 Jul 1.

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells – PubMed (nih.gov)
Hum Mol Genet. 2015 Jun 15;24(12):3457-71. doi: 10.1093/hmg/ddv096.

Identification of telomere dysfunction in Friedreich ataxia – PubMed (nih.gov)
Mol Neurodegener. 2015 Jun 10;10:22. doi: 10.1186/s13024-015-0019-6.

Quantifiable evaluation of cerebellar signs in children – PubMed (nih.gov)
Neurology March 24, 2015 vol. 84 no. 12 1225-1232. doi: 10.1212/WNL.0000000000001403

A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia – PubMed (nih.gov)
Dis Model Mech. 2015 Mar;8(3):225-35. doi: 10.1242/dmm.018952.

Ferredoxin, in conjunction with NADPH and ferredoxin-NADP reductase, transfers electrons to the IscS/IscU complex to promote iron–sulfur cluster assembly – ScienceDirect
Biochim Biophys Acta. 2015 Feb 14. pii: S1570-9639(15)00038-2. doi: 10.1016/j.bbapap.2015.02.002.

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency – PubMed (nih.gov)
Cell Metab. 2015 Feb 3;21(2):311-22. doi: 10.1016/j.cmet.2015.01.010.

Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data – PubMed (nih.gov)
Volume 14, No. 2, p174–182, February 2015. DOI: http://dx.doi.org/10.1016/S1474-4422(14)70321-7


Consensus clinical management guidelines for Friedreich ataxia
Orphanet J Rare Dis. 2014 Nov 30;9:184. doi: 10.1186/s13023-014-0184-7.

Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia | PLOS ONE
PLoS One. 2014 Sep 8;9(9):e107416. doi: 10.1371/journal.pone.0107416. eCollection 2014

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich’s ataxia: an exploratory, open-label, dose-escalation study – PubMed (nih.gov)
Lancet (London, England), 384(9942), 504–513. doi.org/10.1016/S0140-6736(14)60382-2

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia – PubMed (nih.gov)
PloS one, 9(6), e100523. doi.org/10.1371/journal.pone.0100523

Epigenetic-based therapies for Friedreich ataxia – PMC (nih.gov)
Front Genet. 2014 Jun 3;5:165. doi: 10.3389/fgene.2014.00165. PMID: 24917884; PMCID: PMC4042889.

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation – PMC (nih.gov)
Front Pharmacol. 2014 Jun 3;5:130. doi: 10.3389/fphar.2014.00130. PMID: 24917819; PMCID: PMC4042101.

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism – PubMed (nih.gov)
Frontiers in cellular neuroscience, 8, 124. Doi.org/10.3389/fncel.2014.00124

R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome – PubMed (nih.gov)
PLoS genetics, 10(5), e1004318. Doi.org/10.1371/journal.pgen.1004318

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich’s ataxia – PubMed (nih.gov)
Nature medicine, 20(5), 542–547. Doi.org/10.1038/nm.3510

Chronochemistry in neurodegeneration – PubMed (nih.gov)
Frontiers in molecular neuroscience, 7, 20. doi.org/10.3389/fnmol.2014.00020

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models – PubMed (nih.gov)
PloS one, 9(2), e89488. https://doi.org/10.1371/journal.pone.0089488


Analysis of the visual system in Friedreich ataxia
J Neurol. 2013 Sep;260(9):2362-9. doi: 10.1007/s00415-013-6978-z. Epub 2013 Jun 18.

Rating disease progression of Friedreich’s ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database
Brain, Volume 136, Issue 1, January 2013, Pages 259–268

Common data elements for clinical research in Friedreich’s ataxia
Mov Disord. 2013 Feb;28(2):190-5. doi: 10.1002/mds.25201. Epub 2012 Dec 12.

A GAA repeat expansion reporter model of Friedreich’s ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds – PubMed (nih.gov)
Human molecular genetics, 22(25), 5173–5187. https://doi.org/10.1093/hmg/ddt370

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus – PubMed (nih.gov)
PloS one8(9), e74956. Doi.org/10.1371/journal.pone.0074956

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus – PubMed (nih.gov)
PloS one, 8(9), e74956. doi.org/10.1371/journal.pone.0074956

Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales – PubMed (nih.gov)
Journal of neurochemistry, 126 Suppl 1, 118–124. doi.org/10.1111/jnc.12318

Increasing Frataxin Gene Expression with Histone Deacetylase Inhibitors as a Therapeutic Approach for Friedreich’s Ataxia – PMC (nih.gov)
J Neurochem. 2013 Aug;126 Suppl 1(0 1):147-54. doi: 10.1111/jnc.12302. PMID: 23859350; PMCID: PMC3766837.

Deferiprone for the treatment of Friedreich’s ataxia – PubMed (nih.gov)
Journal of neurochemistry, 126 Suppl 1, 142–146. Doi.org/10.1111/jnc.12300

Clinical features of Friedreich’s ataxia: classical and atypical phenotypes – PubMed (nih.gov)
Journal of neurochemistry, 126 Suppl 1, 103–117. doi.org/10.1111/jnc.12317

Mitochondrial pathophysiology in Friedreich’s ataxia – PubMed (nih.gov)
Journal of neurochemistry, 126 Suppl 1, 53–64. doi.org/10.1111/jnc.12303

Co-enzyme Q10 and idebenone use in Friedreich’s ataxia – PubMed (nih.gov)
Journal of neurochemistry, 126 Suppl 1, 125–141. Doi.org/10.1111/jnc.12322

Frataxin: a protein in search for a function – PubMed (nih.gov)
Neurochem. 2013 Aug;126 Suppl 1:43-52. Doi.org/10.1111/jnc.12220

Animal and cellular models of Friedreich ataxia – Perdomini – 2013 – Journal of Neurochemistry – Wiley Online Library
Neurochem. 2013 Aug;126 Suppl 1:65-79. Doi.org/10.1111/jnc.12219

Gene regulation and epigenetics in Friedreich’s ataxia – PubMed (nih.gov)
Journal of neurochemistry, 126 Suppl 1, 21–42. doi.org/10.1111/jnc.12254

Epigenetics in Friedreich’s Ataxia: Challenges and Opportunities for Therapy – PubMed (nih.gov)
Genetics Research International, vol. 2013, Article ID 852080, 12 pages, 2013. doi:10.1155/2013/852080

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich’s ataxia can be reduced upon HDAC inhibition by vitamin B3 – PubMed (nih.gov)
Hum Mol Genet. 2013 Jul 1;22(13):2662-75. Doi.org/10.1093/hmg/ddt115

Ferredoxin competes with bacterial frataxin in binding to the desulfurase IscS – PubMed (nih.gov)
The Journal of biological chemistry, 288(34), 24777–24787. Doi.org/10.1074/jbc.M113.480327

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia | Disease Models & Mechanisms | The Company of Biologists
Dis Model Mech. 2013 May;6(3):608-21.



Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants
J Child Neurol. 2012 Sep;27(9):1152-8. doi: 10.1177/0883073812448462. Epub 2012 Jun 29.

Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects
J Child Neurol. 2012 Sep;27(9):1187-92. doi: 10.1177/0883073812448461. Epub 2012 Jun 29.

Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia
Am J Cardiol. 2012 Feb 1;109(3):401-5. doi: 10.1016/j.amjcard.2011.09.025. Epub 2011 Nov 10.

FXN methylation predicts expression and clinical outcome in Friedreich ataxia
Ann Neurol. 2012 Apr;71(4):487-97. doi: 10.1002/ana.22671.


A gene expression phenotype in lymphocytes from Friedreich ataxia patients – PubMed (nih.gov)
Annals of neurology, 70(5), 790–804. doi.org/10.1002/ana.22526.

The role of CyaY in iron sulfur cluster assembly on the E. coli IscU scaffold protein – PubMed (nih.gov) PLoS One. 2011;6(7):e21992. doi.org/10.1371/journal.pone.0021992.

Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex – PMC (nih.gov)
PLoS One. 2011 Jan 26;6(1):e16199. doi: 10.1371/journal.pone.0016199. PMID: 21298097; PMCID: PMC3027643.


Health-related quality of life in children with Friedreich ataxia
Pediatr Neurol. 2010 May;42(5):335-7. doi: 10.1016/j.pediatrneurol.2010.01.002

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design
Mov Disord. 2010 Mar 15;25(4):426-32. doi: 10.1002/mds.22912.

Structural bases for the interaction of frataxin with the central components of iron-sulphur cluster assembly – PubMed (nih.gov)
Nat Commun. 2010 Oct 19;1:95. doi.org/10.1038/ncomms1097.


Health related quality of life measures in Friedreich Ataxia
J Neurol Sci. 2008 Sep 15;272(1-2):123-8. doi: 10.1016/j.jns.2008.05.009. Epub 2008 Jun 20.

Antioxidant use in Friedreich ataxia
J Neurol Sci. 2008 Apr 15;267(1-2):174-6. Epub 2007 Nov 7.


Measuring Friedreich ataxia: complementary features of examination and performance measures
Neurology. 2006 Jun 13;66(11):1711-6.


Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
Neurology. 2005 Apr 12;64(7):1261-2.

Performance measures in Friedreich ataxia: potential utility as clinical outcome tools
Mov Disord. 2005 Jul;20(7):777-82.