Thursday, June 1, 2017

Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders

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Inder Singh, Vishnu Swarup, Sunil Shakya, Vinay Goyal, Mohammed Faruq, Achal Kumar Srivastava, Single-step blood direct PCR: A robust and ra...
Wednesday, May 31, 2017

Developing gene and cell therapies for rare diseases: an opportunity for synergy between academia and industry

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F Mavilio; Gene Therapy , (25 May 2017) doi:10.1038/gt.2017.36 For the last 20 years, academic research has been the major, and often onl...
Tuesday, May 30, 2017

Blood–brain barrier peptide shuttles

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Macarena Sánchez-Navarro, Ernest Giralt, Meritxell Teixidó, Current Opinion in Chemical Biology, Volume 38, June 2017, Pages 134-140, ISSN 1...
Monday, May 29, 2017

Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study

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Harding, I. H., Corben, L. A., Delatycki, M. B., Stagnitti, M. R., Storey, E., Egan, G. F. and Georgiou-Karistianis, N. (2017), Mov. Disord...
Sunday, May 28, 2017

In Vitro Antioxidant Activity of Idebenone Derivative-Loaded Solid Lipid Nanoparticles

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Lucia Montenegro, Maria N. Modica, Loredana Salerno, Anna Maria Panico, Lucia Crascì, Giovanni Puglisi and Giuseppe Romeo; Molecules 2017, 2...
Saturday, May 27, 2017

Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI

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Thiago Junqueira R. Rezende, Alberto Rolim M. Martinez, Ingrid Faber, Karen Girotto, José Luiz Pedroso, Orlando G. Barsottini, Iscia Lopes-C...
Friday, May 26, 2017

Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich’s ataxia cardiomyopathy

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Stram AR, Wagner GR, Fogler BD, Pride PM, Hirschey MD, Payne RM (2017). PLoS ONE 12(5): e0178354. doi:10.1371/journal.pone.0178354 Acetyla...
Wednesday, May 24, 2017

Healthcare Access and Quality Index based on mortality from causes amenable to personal health care in 195 countries and territories, 1990–2015: a novel analysis from the Global Burden of Disease Study 2015

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GBD 2015 Healthcare Access and Quality Collaborators (Ryan M Barber, Nancy Fullman, Reed J D Sorensen, Thomas Bollyky, Martin McKee, Ellen N...
Tuesday, May 23, 2017

Regulators of frataxin PATENT WO 2017037567 A1

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Pfizer Inc., 9 Mar 2017. This invention relates to a method of treating a condition or a disease associated with decreased levels or activit...
Saturday, May 20, 2017

Nrf2, cellular redox regulation, and neurologic implications

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Eduardo E. Benarroch, MD; Neurology May 16, 2017, 88:20 1942-1950; published ahead of print April 19, 2017, 1526-632X  doi: 10.​1212/​WNL.​0...