Below are the most recent publications written about "Friedreich Ataxia" by people in Profiles.
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Hayer SN, Liepelt I, Barro C, Wilke C, Kuhle J, Martus P, Schöls L. NfL and pNfH are increased in Friedreich's ataxia. J Neurol. 2020 May; 267(5):1420-1430.
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Thomas RJ, Morrison PJ. Mapping proprioceptive function using corticokinematic coherence in ataxias. Neurology. 2019 07 09; 93(2):49-50.
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Ast T, Meisel JD, Patra S, Wang H, Grange RMH, Kim SH, Calvo SE, Orefice LL, Nagashima F, Ichinose F, Zapol WM, Ruvkun G, Barondeau DP, Mootha VK. Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis. Cell. 2019 05 30; 177(6):1507-1521.e16.
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Macrae CA. Rare Diseases Inform Myocardial Phenotypes for Precision Medicine. J Card Fail. 2018 10; 24(10):680-681.
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Neil AJ, Liang MU, Khristich AN, Shah KA, Mirkin SM. RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication. Nucleic Acids Res. 2018 04 20; 46(7):3487-3497.
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Erwin GS, Grieshop MP, Ali A, Qi J, Lawlor M, Kumar D, Ahmad I, McNally A, Teider N, Worringer K, Sivasankaran R, Syed DN, Eguchi A, Ashraf M, Jeffery J, Xu M, Park PMC, Mukhtar H, Srivastava AK, Faruq M, Bradner JE, Ansari AZ. Synthetic transcription elongation factors license transcription across repressive chromatin. Science. 2017 12 22; 358(6370):1617-1622.
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McGinty RJ, Puleo F, Aksenova AY, Hisey JA, Shishkin AA, Pearson EL, Wang ET, Housman DE, Moore C, Mirkin SM. A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich's Ataxia. Cell Rep. 2017 Sep 05; 20(10):2490-2500.
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Stram AR, Wagner GR, Fogler BD, Pride PM, Hirschey MD, Payne RM. Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich's ataxia cardiomyopathy. PLoS One. 2017; 12(5):e0178354.
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Mehta N, Chacko P, Jin J, Tran T, Prior TW, He X, Agarwal G, Raman SV. Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes. Tex Heart Inst J. 2016 Aug; 43(4):305-10.
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Worth AJ, Basu SS, Deutsch EC, Hwang WT, Snyder NW, Lynch DR, Blair IA. Stable isotopes and LC-MS for monitoring metabolic disturbances in Friedreich's ataxia platelets. Bioanalysis. 2015; 7(15):1843-55.