Friedreich's ataxia (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Friedreich's ataxia" in English language version.

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64nih.gov

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47doi.org

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19semanticscholar.org

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3harvard.edu

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1frdaguidelines.org

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cbslocal.com

sacramento.cbslocal.com

"Devastating Diagnosis Pushes Local Man To Live Bigger". CBS Sacramento. 30 May 2015. Archived from the original on 16 June 2015. Retrieved 12 June 2015.

clinicaltrials.gov

"A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreich's Ataxia (MOXIe)". 1 October 2020 – via clinicaltrials.gov.

curefa.org

"Friedreich ataxia clinical management guidelines". Friedreich Ataxia Research Alliance (USA). 2014. Archived from the original on 20 October 2018. Retrieved 23 October 2018.
"FARA – Part 2 of the Phase II MOXIe study (RTA 408 or omaveloxolone)". www.curefa.org. Archived from the original on 7 March 2020. Retrieved 22 March 2021.
"The FA App". The FA App). Retrieved 8 July 2021.
"FARA". FARA). Retrieved 11 December 2024.
"Jupiter Orphan Therapeutics, Inc. Enters into a Global Licensing Agreement with Murdoch Childrens Research Institute" (PDF). Archived from the original (PDF) on 11 July 2019. Retrieved 8 April 2019.

doi.org

Cook A, Giunti P (2017). "Friedreich's ataxia: Clinical features, pathogenesis and management". British Medical Bulletin. 124 (1): 19–30. doi:10.1093/bmb/ldx034. PMC 5862303. PMID 29053830.
McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, et al. (2017). "Impact of diabetes in the Friedreich ataxia clinical outcome measures study". Annals of Clinical and Translational Neurology. 4 (9): 622–631. doi:10.1002/acn3.439. PMC 5590524. PMID 28904984.
Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. (2018). "Nonataxia symptoms in Friedreich Ataxia" (PDF). Neurology. 91 (10): e917–e930. doi:10.1212/WNL.0000000000006121. PMID 30097477. S2CID 51956258.
Parksinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P (August 2013). "Clinical features of Friedreich's ataxia: classical and atypical phenotypes". Journal of Neurochemistry. 126 (Supplement 1): 103–17. doi:10.1111/jnc.12317. PMID 23859346.
Klockgether T (August 2011). "Update on degenerative ataxias". Current Opinion in Neurology. 24 (4): 339–45. doi:10.1097/WCO.0b013e32834875ba. PMID 21734495.
Clark E, Johnson J, Dong YN, Mercado-Ayon, Warren N, Zhai M, et al. (November 2018). "Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease". Neuronal Signaling. 2 (4): NS20180060. doi:10.1042/NS20180060. PMC 7373238. PMID 32714592.
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. (October 1996). "Clinical and genetic abnormalities in patients with Friedreich's ataxia". The New England Journal of Medicine. 335 (16): 1169–75. doi:10.1056/nejm199610173351601. PMID 8815938.
Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, et al. (August 1997). "The Friedreich ataxia GAA triplet repeat: premutation and normal alleles". Human Molecular Genetics. 6 (8): 1261–6. doi:10.1093/hmg/6.8.1261. PMID 9259271.
Bürk K (2017). "Friedreich Ataxia: current status and future prospects". Cerebellum & Ataxias. 4: 4. doi:10.1186/s40673-017-0062-x. PMC 5383992. PMID 28405347.
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, et al. (February 1999). "Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes". Annals of Neurology. 45 (2): 200–6. doi:10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U. PMID 9989622. S2CID 24885238.
Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, et al. (August 2015). "Frataxin levels in peripheral tissue in Friedreich ataxia". Annals of Clinical and Translational Neurology. 2 (8): 831–42. doi:10.1002/acn3.225. PMC 4554444. PMID 26339677.
Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, et al. (March 2016). "Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia". Annals of Neurology. 79 (3): 485–95. doi:10.1002/ana.24595. PMID 26704351. S2CID 26709558.
Delatycki MB, Bidichandani SI (2019). "Friedreich ataxia- pathogenesis and implications for therapies". Neurobiology of Disease. 132: 104606. doi:10.1016/j.nbd.2019.104606. PMID 31494282. S2CID 201839487.
Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V (2019). "Heart disease in Friedreich's ataxia". World Journal of Cardiology. 11 (1): 1–12. doi:10.4330/wjc.v11.i1.1. PMC 6354072. PMID 30705738.
Maio N, Jain A, Rouault TA (2020). "Mammalian iron–sulfur cluster biogenesis: Recent insights into the roles of frataxin, acyl carrier protein and ATPase-mediated transfer to recipient proteins". Current Opinion in Chemical Biology. 55: 34–44. doi:10.1016/j.cbpa.2019.11.014. PMC 7237328. PMID 31918395.
Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, et al. (December 2014). "Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia". Human Molecular Genetics. 23 (25): 6848–62. doi:10.1093/hmg/ddu408. PMC 4245046. PMID 25113747.
"Role of Frataxin, a Protein Implicated in Friedreich Ataxia, in Making Iron-Sulfur Clusters♦". Journal of Biological Chemistry. 288 (52): 36787. 2013. doi:10.1074/jbc.P113.525857. PMC 3873538. S2CID 220291178.
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB, Clinical Management Guidelines Writing Group (November 2014). "Consensus clinical management guidelines for Friedreich ataxia". Orphanet Journal of Rare Diseases. 9: 184. doi:10.1186/s13023-014-0184-7. PMC 4280001. PMID 25928624.
Brigatti KW, Deutsch EC, Lynch DR, Farmer JM (September 2012). "Novel diagnostic paradigms for Friedreich ataxia". Journal of Child Neurology. 27 (9): 1146–51. doi:10.1177/0883073812448440. PMC 3674546. PMID 22752491.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, et al. (2022). "Clinical management guidelines for Friedreich ataxia: Best practice in rare diseases". Orphanet Journal of Rare Diseases. 17 (1): 415. doi:10.1186/s13023-022-02568-3. PMC 9652828. PMID 36371255.
Lee A (June 2023). "Omaveloxolone: First Approval". Drugs. 83 (8): 725–729. doi:10.1007/s40265-023-01874-9. PMID 37155124. S2CID 258567442. Archived from the original on 9 December 2023. Retrieved 16 December 2023.
Subramony SH, Lynch DL (May 2023). "A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia". Cerebellum. 23 (2): 775–777. doi:10.1007/s12311-023-01568-8. PMID 37219716. S2CID 258843532.
Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, et al. (February 2016). "Emerging therapies in Friedreich's ataxia". Neurodegenerative Disease Management. 6 (1): 49–65. doi:10.2217/nmt.15.73. PMC 4768799. PMID 26782317.
Chien H, Barsottini O (10 December 2016). Chien HF, Barsottini OG (eds.). Movement Disorders Rehabilitation. Springer, Cham. pp. 83–95. doi:10.1007/978-3-319-46062-8. ISBN 978-3-319-46062-8.
Lowit A, Egan A, Hadjivassiliou M (2020). "Feasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias". The Cerebellum. 19 (5): 701–714. doi:10.1007/s12311-020-01153-3. PMC 7471180. PMID 32588316.
Ojoga F, Marinescu S (2013). "Physical Therapy and Rehabilitation for Ataxic Patients" (PDF). Balneo Research Journal. 4 (2): 81–84. doi:10.12680/balneo.2013.1044.
Leonardi L, Aceto MG, Marcotulli C, Arcuria G, Serrao M, Pierelli F, et al. (March 2017). "A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study". Neurological Sciences. 38 (3): 459–463. doi:10.1007/s10072-016-2800-x. PMID 28039539. S2CID 27569800.
Doğan-Aslan M, Büyükvural-Şen S, Nakipoğlu-Yüzer GF, Özgirgin N (September 2018). "Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study" (PDF). Turkish Journal of Physical Medicine and Rehabilitation. 64 (3): 230–238. doi:10.5606/tftrd.2018.2213. PMC 6657791. PMID 31453516. Archived (PDF) from the original on 30 October 2018. Retrieved 29 October 2018.
Vankan P (2013). "Prevalence gradients of Friedreich's Ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge". Journal of Neurochemistry. 126: 11–20. doi:10.1111/jnc.12215. PMID 23859338.
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. (October 1996). "Clinical and genetic abnormalities in patients with Friedreich's ataxia". The New England Journal of Medicine. 335 (16): 1169–75. doi:10.1056/NEJM199610173351601. PMID 8815938.
Vankan P (August 2013). "Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge". Journal of Neurochemistry. 126 (Suppl 1): 11–20. doi:10.1111/jnc.12215. PMID 23859338. S2CID 39343424.
Friedreich N (1863). "Ueber degenerative Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column]. Arch Pathol Anat Phys Klin Med (in German). 26 (3–4): 391–419. doi:10.1007/BF01930976. S2CID 42991858.
Friedreich N (1863). "Ueber degenerative Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column]. Arch Pathol Anat Phys Klin Med (in German). 26 (5–6): 433–459. doi:10.1007/BF01878006. S2CID 34515886.
Friedreich N (1863). "Ueber degenerative Atrophie der spinalen Hinterstränge" [About degenerative atrophy of the spinal posterior column]. Arch Pathol Anat Phys Klin Med (in German). 27 (1–2): 1–26. doi:10.1007/BF01938516. S2CID 46459932.
Friedreich N (1876). "Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen" [About ataxia with special reference to hereditary forms]. Arch Pathol Anat Phys Klin Med (in German). 68 (2): 145–245. doi:10.1007/BF01879049. S2CID 42155823.
Barbeau A, Sadibelouiz M, Roy M, Lemieux B, Bouchard JP, Geoffroy G (November 1984). "Origin of Friedreich's disease in Quebec". The Canadian Journal of Neurological Sciences. 11 (4 Suppl): 506–9. doi:10.1017/S0317167100034971. PMID 6391645.
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. (March 1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion". Science. 271 (5254): 1423–7. Bibcode:1996Sci...271.1423C. doi:10.1126/science.271.5254.1423. PMID 8596916. S2CID 20303793.
Reisman SA, Lee CY, Meyer CJ, Proksch JW, Sonis ST, Ward KW (May 2014). "Topical application of the synthetic triterpenoid RTA 408 protects mice from radiation-induced dermatitis". Radiation Research. 181 (5): 512–20. Bibcode:2014RadR..181..512R. doi:10.1667/RR13578.1. PMID 24720753. S2CID 23906747.
Shan Y, Schoenfeld RA, Hayashi G, Napoli E, Akiyama T, Iodi Carstens M, et al. (November 2013). "Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model". Antioxidants & Redox Signaling. 19 (13): 1481–93. doi:10.1089/ars.2012.4537. PMC 3797453. PMID 23350650..
Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, et al. (January 2019). "Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia". Annals of Clinical and Translational Neurology. 6 (1): 15–26. doi:10.1002/acn3.660. PMC 6331199. PMID 30656180.
Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, et al. (January 2012). "Initial experience in the treatment of inherited mitochondrial disease with EPI-743". Molecular Genetics and Metabolism. 105 (1): 91–102. doi:10.1016/j.ymgme.2011.10.009. PMID 22115768.
Indelicato E, Bosch S (2018). "Emerging therapeutics for the treatment of Friedreich's ataxia". Expert Opinion on Orphan Drugs. 6: 57–67. doi:10.1080/21678707.2018.1409109. S2CID 80157839.
Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, et al. (June 2019). "Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia". PLOS ONE. 14 (6): e0217776. Bibcode:2019PLoSO..1417776J. doi:10.1371/journal.pone.0217776. PMC 6546270. PMID 31158268.
Miller JL, Rai M, Frigon NL, Pandolfo M, Punnonen J, Spencer JR (September 2017). "Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo". Neuropharmacology. 123: 34–45. doi:10.1016/j.neuropharm.2017.05.011. PMID 28504123. S2CID 402724.
Alfedi G, Luffarelli R, Condò I, Pedini G, Mannucci L, Massaro DS, et al. (March 2019). "Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia". Movement Disorders. 34 (3): 323–334. doi:10.1002/mds.27604. PMID 30624801. S2CID 58567610.
Benini M, Fortuni S, Condò I, Alfedi G, Malisan F, Toschi N, et al. (February 2017). "E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia". Cell Reports. 18 (8): 2007–2017. doi:10.1016/j.celrep.2017.01.079. PMC 5329121. PMID 28228265.
Khonsari H, Schneider M, Al-Mahdawi S, Chianea YG, Themis M, Parris C, et al. (December 2016). "Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts". Gene Therapy. 23 (12): 846–856. doi:10.1038/gt.2016.61. PMC 5143368. PMID 27518705.

europa.eu

ema.europa.eu

"Skyclarys EPAR". European Medicines Agency (EMA). 14 December 2023. Archived from the original on 15 December 2023. Retrieved 16 December 2023. Text was copied from this source which is copyright European Medicines Agency. Reproduction is authorized provided the source is acknowledged.

fda.gov

"FDA approves first treatment for Friedreich's ataxia". U.S. Food and Drug Administration (FDA). 28 February 2023. Archived from the original on 1 March 2023. Retrieved 28 February 2023. This article incorporates text from this source, which is in the public domain.
New Drug Therapy Approvals 2023 (PDF). U.S. Food and Drug Administration (FDA) (Report). January 2024. Archived from the original on 10 January 2024. Retrieved 9 January 2024.

figshare.com

Lee A (June 2023). "Omaveloxolone: First Approval". Drugs. 83 (8): 725–729. doi:10.1007/s40265-023-01874-9. PMID 37155124. S2CID 258567442. Archived from the original on 9 December 2023. Retrieved 16 December 2023.

frdaguidelines.org

"FDRA Guidelines". Retrieved 8 May 2023.

friedreichsataxianews.com

"FA Global Patient Registry (FAGPR)". FA Global Patient Registry (FAGPR). 5 October 2017. Retrieved 27 April 2021.
Melão A (19 October 2017). "CRISPR Therapeutics Receives FARA Grant to Develop Gene Editing Therapies for Friedreich's Ataxia". Friedreich's Ataxia News. Archived from the original on 21 April 2019. Retrieved 21 April 2019.

ftrdergisi.com

Doğan-Aslan M, Büyükvural-Şen S, Nakipoğlu-Yüzer GF, Özgirgin N (September 2018). "Demographic and clinical features and rehabilitation outcomes of patients with Friedreich ataxia: A retrospective study" (PDF). Turkish Journal of Physical Medicine and Rehabilitation. 64 (3): 230–238. doi:10.5606/tftrd.2018.2213. PMC 6657791. PMID 31453516. Archived (PDF) from the original on 30 October 2018. Retrieved 29 October 2018.

gulfnews.com

"Shobhika Kalra: Meet the Dubai woman in wheelchair who helped build 1,000 ramps across UAE". GULF NEWS. 30 October 2018. Archived from the original on 15 December 2018. Retrieved 14 December 2018.

harvard.edu

ui.adsabs.harvard.edu

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, et al. (March 1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion". Science. 271 (5254): 1423–7. Bibcode:1996Sci...271.1423C. doi:10.1126/science.271.5254.1423. PMID 8596916. S2CID 20303793.
Reisman SA, Lee CY, Meyer CJ, Proksch JW, Sonis ST, Ward KW (May 2014). "Topical application of the synthetic triterpenoid RTA 408 protects mice from radiation-induced dermatitis". Radiation Research. 181 (5): 512–20. Bibcode:2014RadR..181..512R. doi:10.1667/RR13578.1. PMID 24720753. S2CID 23906747.
Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, et al. (June 2019). "Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia". PLOS ONE. 14 (6): e0217776. Bibcode:2019PLoSO..1417776J. doi:10.1371/journal.pone.0217776. PMC 6546270. PMID 31158268.

itv.com

"Man with rare nerve condition climbs Mount Kilimanjaro to raise money for charity". ITV. 25 November 2018. Archived from the original on 15 December 2018. Retrieved 14 December 2018.

lrb.co.uk

Adam Shatz, "Where Life Is Seized" Archived 12 January 2017 at the Wayback Machine, London Review of Books, 19 January 2017

nih.gov

pubmed.ncbi.nlm.nih.gov

Cook A, Giunti P (2017). "Friedreich's ataxia: Clinical features, pathogenesis and management". British Medical Bulletin. 124 (1): 19–30. doi:10.1093/bmb/ldx034. PMC 5862303. PMID 29053830.
McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, et al. (2017). "Impact of diabetes in the Friedreich ataxia clinical outcome measures study". Annals of Clinical and Translational Neurology. 4 (9): 622–631. doi:10.1002/acn3.439. PMC 5590524. PMID 28904984.
Reetz K, Dogan I, Hohenfeld C, Didszun C, Giunti P, Mariotti C, et al. (2018). "Nonataxia symptoms in Friedreich Ataxia" (PDF). Neurology. 91 (10): e917–e930. doi:10.1212/WNL.0000000000006121. PMID 30097477. S2CID 51956258.
Parksinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P (August 2013). "Clinical features of Friedreich's ataxia: classical and atypical phenotypes". Journal of Neurochemistry. 126 (Supplement 1): 103–17. doi:10.1111/jnc.12317. PMID 23859346.
Klockgether T (August 2011). "Update on degenerative ataxias". Current Opinion in Neurology. 24 (4): 339–45. doi:10.1097/WCO.0b013e32834875ba. PMID 21734495.
Clark E, Johnson J, Dong YN, Mercado-Ayon, Warren N, Zhai M, et al. (November 2018). "Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease". Neuronal Signaling. 2 (4): NS20180060. doi:10.1042/NS20180060. PMC 7373238. PMID 32714592.
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. (October 1996). "Clinical and genetic abnormalities in patients with Friedreich's ataxia". The New England Journal of Medicine. 335 (16): 1169–75. doi:10.1056/nejm199610173351601. PMID 8815938.
Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, et al. (August 1997). "The Friedreich ataxia GAA triplet repeat: premutation and normal alleles". Human Molecular Genetics. 6 (8): 1261–6. doi:10.1093/hmg/6.8.1261. PMID 9259271.
Bürk K (2017). "Friedreich Ataxia: current status and future prospects". Cerebellum & Ataxias. 4: 4. doi:10.1186/s40673-017-0062-x. PMC 5383992. PMID 28405347.
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, et al. (February 1999). "Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes". Annals of Neurology. 45 (2): 200–6. doi:10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U. PMID 9989622. S2CID 24885238.
Lazaropoulos M, Dong Y, Clark E, Greeley NR, Seyer LA, Brigatti KW, et al. (August 2015). "Frataxin levels in peripheral tissue in Friedreich ataxia". Annals of Clinical and Translational Neurology. 2 (8): 831–42. doi:10.1002/acn3.225. PMC 4554444. PMID 26339677.
Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, et al. (March 2016). "Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia". Annals of Neurology. 79 (3): 485–95. doi:10.1002/ana.24595. PMID 26704351. S2CID 26709558.
Delatycki MB, Bidichandani SI (2019). "Friedreich ataxia- pathogenesis and implications for therapies". Neurobiology of Disease. 132: 104606. doi:10.1016/j.nbd.2019.104606. PMID 31494282. S2CID 201839487.
Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V (2019). "Heart disease in Friedreich's ataxia". World Journal of Cardiology. 11 (1): 1–12. doi:10.4330/wjc.v11.i1.1. PMC 6354072. PMID 30705738.
Maio N, Jain A, Rouault TA (2020). "Mammalian iron–sulfur cluster biogenesis: Recent insights into the roles of frataxin, acyl carrier protein and ATPase-mediated transfer to recipient proteins". Current Opinion in Chemical Biology. 55: 34–44. doi:10.1016/j.cbpa.2019.11.014. PMC 7237328. PMID 31918395.
Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, et al. (December 2014). "Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia". Human Molecular Genetics. 23 (25): 6848–62. doi:10.1093/hmg/ddu408. PMC 4245046. PMID 25113747.
Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB, Clinical Management Guidelines Writing Group (November 2014). "Consensus clinical management guidelines for Friedreich ataxia". Orphanet Journal of Rare Diseases. 9: 184. doi:10.1186/s13023-014-0184-7. PMC 4280001. PMID 25928624.
Brigatti KW, Deutsch EC, Lynch DR, Farmer JM (September 2012). "Novel diagnostic paradigms for Friedreich ataxia". Journal of Child Neurology. 27 (9): 1146–51. doi:10.1177/0883073812448440. PMC 3674546. PMID 22752491.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, et al. (2022). "Clinical management guidelines for Friedreich ataxia: Best practice in rare diseases". Orphanet Journal of Rare Diseases. 17 (1): 415. doi:10.1186/s13023-022-02568-3. PMC 9652828. PMID 36371255.
Lee A (June 2023). "Omaveloxolone: First Approval". Drugs. 83 (8): 725–729. doi:10.1007/s40265-023-01874-9. PMID 37155124. S2CID 258567442. Archived from the original on 9 December 2023. Retrieved 16 December 2023.
Subramony SH, Lynch DL (May 2023). "A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia". Cerebellum. 23 (2): 775–777. doi:10.1007/s12311-023-01568-8. PMID 37219716. S2CID 258843532.
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Lowit A, Egan A, Hadjivassiliou M (2020). "Feasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias". The Cerebellum. 19 (5): 701–714. doi:10.1007/s12311-020-01153-3. PMC 7471180. PMID 32588316.
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