Monday, August 21, 2017

European Reference networks for rare diseases: what is the conceptual framework?

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Véronique Héon-Klin, Orphanet Journal of Rare Diseases 201712:137 doi:10.1186/s13023-017-0676-3 In February 2017, 24 European Reference Ne...
Sunday, August 20, 2017

Advances in Neurological Therapeutics for Friedreich Ataxia and Machado-Joseph Disease

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Yabe I, Sasaki H.; Brain Nerve. 2017 Aug;69(8):913-924. doi: 10.11477/mf.1416200842. [Article in Japanese] We reviewed advances in therape...
Friday, August 18, 2017

Cerebral Abnormalities in Friedreich Ataxia: A Review

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Louisa P. Selvadurai, Ian H. Harding, Louise A. Corben, Nellie Georgiou-Karistianis, Neuroscience & Biobehavioral Reviews, Available onl...
Thursday, August 17, 2017

Tocotrienols: the unsaturated sidekick shifting new paradigms in vitamin E therapeutics

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Madhu M. Kanchi, Muthu K. Shanmugam, Grishma Rane, Gautam Sethi, Alan P. Kumar, Drug Discovery Today, 2017, ISSN 1359-6446, doi:10.1016/j.d...

Targeting Mitochondrial Dysfunction in Neurodegenerative Disease

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The Dana Foundation. By Kayt Sukel, August 15, 2017 It’s long been known that the brain is an energy glutton: Most estimates suggest that...
Wednesday, August 16, 2017

Mechanisms of unexpected death and autopsy findings in Friedreich ataxia

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Roger W Byard, , John D Gilbert; Medicine, Science and the Law, First published date: August-13-2017, Doi:10.1177/0025802417723809 A 36-ye...
Tuesday, August 15, 2017

FDA Confirms That Use of mFARS as Primary Endpoint in Part 2 of the MOXIe Trial Can Support Approval of Omaveloxolone in Friedreich’s Ataxia

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RVING, Texas, Aug. 14, 2017 (GLOBE NEWSWIRE) -- Reata Pharmaceuticals, Inc. (Nasdaq:RETA) (“Reata” or the “Company”), a clinical-stage bioph...
Monday, August 14, 2017

Mitochondrial biogenesis and neural differentiation of human iPSC is modulated by idebenone in a developmental stage-dependent manner

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J. Augustyniak, J. Lenart, M. Zychowicz, P. P. Stepien, L. Buzanska. Biogerontology (2017) 18: 665. doi:10.1007/s10522-017-9718-4 Idebenon...
Friday, August 11, 2017

Reversible axonal dystrophy by calcium modulation in frataxin-deficient sensory neurons of YG8R mice

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Belén Mollá, Diana C. Muñoz-Lasso, Fatima Riveiro1, Arantxa Bolinches-Amorós, Federico V. Pallardó, Angel Fernandez-Vilata, Maria D. Vaya,...
Thursday, August 10, 2017

Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia

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Alyssa B. Becker, BA Jiang Qian, MD, PhD Benjamin B. Gelman, MD, PhD Michele Yang, MD Peter Bauer, MD Arnulf H. Koeppen, MD; Journal of Neu...