Saturday, December 7, 2019

Effects of tocotrienol supplementation in Friedreich’s ataxia: A model of oxidative stress pathology

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Alessandra Bolotta, Antonella Pini, Provvidenza M Abruzzo, Alessandro Ghezzo, Alessandra Modesti, Tania Gamberi, Carla Ferreri, Francesca Bu...
Friday, December 6, 2019

The Friedreich’s Ataxia Research Alliance Promotes Jennifer Farmer, MS to Chief Executive Officer

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PRESS RELEASE GlobeNewswire, Dec. 5, 2019 DOWNINGTOWN, Pa., Dec. 05, 2019 (GLOBE NEWSWIRE) -- The Board of Directors at The Friedreich’s A...

L’Associació Francesa de l’atàxia de Friedreich concedeix una ajuda de 25.000 € per validar el potencial terapèutic del calcitriol per tractar aquesta malaltia rara

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IRB-Lleida, Dijous, 5 de desembre de 2019 L'Associació Francesa de l'Atàxia de Friedreich ha concedit una ajuda de 25.000 € al Grup...

Friedreich’s Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance

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Mavrogeni Sophie, Giannakopoulou Aikaterini, Katsalouli Marinab, Pons Roser Maria, Papavasiliou Antigoni, Kolovou Genovefa, Noutsias Michel,...
Tuesday, December 3, 2019

A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies

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White, W.; Gene Ther (2019) doi:10.1038/s41434-019-0110-7 Gene-based therapies are changing the landscape of medicine for patients with ra...
Monday, December 2, 2019

Pediatric Neuromuscular Disorders

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Christopher Michel, Christopher Collins, Pediatric Clinics of North America, 67(1), 45–57. doi:10.1016/j.pcl.2019.09.002 Neuromuscular dis...
Sunday, December 1, 2019

A network-based approach to uncover microRNA-mediated disease comorbidities and potential pathobiological implications

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Shuting Jin, Xiangxiang Zeng, Jiansong Fang, Jiawei Lin, Stephen Y. Chan, Serpil C. Erzurum & Feixiong Cheng; npj Syst Biol Appl 5, 41 ...
Saturday, November 30, 2019

International perspectives on the implementation of reproductive carrier screening

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Martin B. Delatycki Fowzan Alkuraya Alison Archibald Carlo Castellani Martina Cornel Wayne W. Grody Lidewij Henneman Adonis Ioannides Edwin ...
Friday, November 29, 2019

Possible Mechanisms of Biological Effects Observed in Living Systems during 2H/1H Isotope Fractionation and Deuterium Interactions with Other Biogenic Isotopes

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Basov, A.; Fedulova, L.; Vasilevskaya, E.; Dzhimak, S. ; Molecules 2019, 24, 4101. doi:10.3390/molecules24224101 Data on the efficacy and ...
Thursday, November 28, 2019

The ying and yang of idebenone: Not too little, not too much – cell death in NQO1 deficient cells and the mouse retina

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C. Varricchio, K. Beirne, C. Heard, B. Newland, M. Rozanowska, A. Brancale, M. Votruba, Free Radical Biology and Medicine, 2019, doi:10.1016...