Wednesday, January 23, 2019

Rare Diseases Inform Myocardial Phenotypes for Precision Medicine

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Macrae, Calum A., Journal of Cardiac Failure , Volume 24 , Issue 10 , 680 - 681 Friedreich's ataxia (FA) is an autosomal recessive “tr...
Tuesday, January 22, 2019

Modelling of Friedreich’s Ataxia and other Genetic Disorders as Defective / Noisy Genetic Information Processing

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SWASTI WAGH, D.K. WAGH; Journal of Ultra Scientist of Physical Sciences - A, Voulume: 30, Issue: 12 DOI:10.22147/jusps-A/301201 Genetic di...
Friday, January 18, 2019

Heart disease in Friedreich’s ataxia

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Hanson E, Sheldon M, Pacheco B, Alkubeysi M, Raizada V.; World J Cardiol. Jan 26, 2019; 11(1): 1-12 Published online Jan 26, 2019. doi: 10....
Thursday, January 17, 2019

Estimating the clinical cost of drug development for orphan versus non-orphan drugs

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Kavisha Jayasundara, Aidan Hollis, Murray Krahn, Muhammad Mamdani, Jeffrey S. Hoch and Paul Grootendorst; Orphanet Journal of Rare Diseases ...
Wednesday, January 16, 2019

Young adult with Friedreich ataxia

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Milano EG, Harries IB, Bucciarelli-Ducci C, Heart Published Online First: 15 January 2019. doi: 10.1136/heartjnl-2018-314387 Clinical intr...
Tuesday, January 15, 2019

Revealing the Superpowers of PrimPol: rescuing replicating microsatellites

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Reid, J. E., & Fischer, T. (2019). The EMBO Journal, e101298. doi:10.15252/embj.2018101298 Error‐free replication of repetitive stretc...
Monday, January 14, 2019

Ferroptosis as a novel therapeutic target for Friedreich's ataxia

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M. Grazia Cotticelli, Shujuan Xia, Daniel Lin, Taehee Lee, Leila Terrab, Peter Wipf, Donna Huryn and Robert Wilson Journal of Pharmacology ...
Sunday, January 13, 2019

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia

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Phillip G. D. Ward PhD, Ian H. Harding PhD, Thomas G. Close PhD, Louise A. Corben PhD, Martin B. Delatycki MBBS, FRACP, PhD, Elsdon Storey D...
Saturday, January 12, 2019

Etravirine in Friedreich's ataxia: Lessons from HIV?

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Lynch DR, Schadt K1, Kichula E. Mov Disord. 2019 Jan 10. doi: 10.1002/mds.27605. [Epub ahead of print]
Friday, January 11, 2019

Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

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Giulia Alfedi MSc, Riccardo Luffarelli MSc, Ivano Condò PhD, Giorgia Pedini MSc, Liliana Mannucci PhD, Damiano S. Massaro PhD, Monica Benini...