Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

Sunday, October 17, 2021

In vivo assessment of OXPHOS capacity using 3 T CrCEST MRI in Friedreich's ataxia

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Schur GM, Dunn J, Nguyen S, Dedio A, Wade K, Tamaroff J, Mitta N, Wilson N, Reddy R, Lynch DR, McCormack SE.; J Neurol. 2021 Oct 15. doi: 10...
Thursday, October 14, 2021

Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]-FEMPA PET Study

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Khan, W., Corben, L.A., Bilal, H., Vivash, L., Delatycki, M.B., Egan, G.F. and Harding, I.H. (2021), Mov Disord. doi:10.1002/mds.28825  Neur...
Thursday, October 7, 2021

Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study

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Norrish G, Rance T, Montanes E, Field E, Brown E, Bhole V, Stuart G, Uzun O, McLeod KA, Ilina M, Adwani S, Daubeney P, Delle Donne G, Linter...
Saturday, October 2, 2021

Highlighting the Significant Strides Made in Friedreich Ataxia Care

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NeurologyLive. October 1, 2021. David R. Lynch, MD, PhD, professor of neurology, University of Pennsylvania Perelman School of Medicine, dis...
Thursday, September 30, 2021

Reata Pharmaceuticals Plans NDA Submission for Omaveloxolone in First Quarter of 2022 Following Completion of Pre-NDA Meeting with FDA

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September 30, 2021. PLANO, Texas--(BUSINESS WIRE)--Reata Pharmaceuticals, Inc. (Nasdaq: RETA) (“Reata,” the “Company,” or “we”), a clinical-...
Sunday, September 26, 2021

A mitochondrial membrane-bridging machinery mediates signal transduction of intramitochondrial oxidation

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Li Li, Devon M. Conradson, Vinita Bharat, Min Joo Kim, Chung-Han Hsieh, Paras S. Minhas, Amanda M. Papakyrikos, Aarooran Sivakumaran Duraira...
Friday, September 24, 2021

Adaptation of the heart to Frataxin depletion: Evidence that integrated stress response can predominate over mTORC1 activation

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César Vásquez-Trincado, Monika Patel, Aishwarya Sivaramakrishnan, Carmen Bekeová, Lauren Anderson-Pullinger, Nadan Wang, Hsin-Yao Tang, Erin...
Sunday, September 19, 2021

Microvascular Breakdown Due to Retinal Neurodegeneration in Ataxias

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Christopher A. Turski MD, Gabrielle N. Turski MD, Jennifer Faber MD, Stefan J. Teipel MD, Frank G. Holz MD, Thomas Klockgether MD, Robert P....
Friday, September 17, 2021

The temporal dynamics of the DMN state also correlated with minute-long DMN rsFC

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Naeije G, Coquelet N, Wens V, et al. . Human Brain Mapping. 2021 Sep. DOI: 10.1002/hbm.25621. PMID: 34523778. ; This study demonstrates that...

Blood Neurofilament Light Chain in Genetic Ataxia: A Meta-Analysis

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Peng L, Wang S, Chen Z, Peng Y, Wang C, Long Z, Peng H, Shi Y, Hou X, Lei L, Wan L, Liu M, Zou G, Shen L, Xia K, Qiu R, Tang B, Ashizawa T, ...
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