Sunday, December 4, 2016

Loss of Frataxin activates the iron/sphingolipid/PDK1/Mef2 pathway in mammals

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Kuchuan Chen, Tammy Szu-Yu Ho, Guang Lin, Kai Li Tan, Matthew N Rasband, Hugo J Bellen; eLife Tue, 29 Nov 2016 DOI:10.7554/eLife.20732 Here...
Friday, December 2, 2016

Negotiating prices of drugs for rare diseases

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Séverine Henrard & Francis Arickx, Bulletin of the World Health Organization 2016;94:779-781. doi:10.2471/BLT.15.163519 Due to the in...

A Cost of Illness Study Evaluating The Healthcare And Societal Burden of Friedreich’s Ataxia In The United Kingdom

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K Hanman, A Griffiths, A Bobrowska, J Vallortigara, J Greenfield, RS Thompson, Value in Health, Volume 19, Issue 7, November 2016, Pages A58...
Thursday, December 1, 2016

Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase

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Cinzia Cinesi, Lorène Aeschbach, Bin Yang & Vincent Dion. Nature Communications 7, Article number: 13272 (2016) doi:10.1038/ncomms13272 ...
Wednesday, November 30, 2016

Launches of First Therapies Approved for Spinal Muscular Atrophy and Friedreich's Ataxia Will Revolutionize Treatment and Drive Growth of These Rare Disease Markets

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BURLINGTON, Mass., Oct. 25, 2016 /PRNewswire/ -- Decision Resources Group finds that the anticipated launches of the first therapies for the...

Disruption of Higher Order DNA Structures in Friedreich’s Ataxia (GAA)n Repeats by PNA or LNA Targeting

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Helen Bergquist, Cristina S. J. Rocha, Rubén Álvarez-Asencio, Chi-Hung Nguyen, Mark. W. Rutland, C. I. Edvard Smith, Liam Good, Peter E. Nie...
Tuesday, November 29, 2016

Long term clinical and neurophysiological effects of cerebellar transcranial direct current stimulation in patients with neurodegenerative ataxia

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A. Benussi, V. Dell’Era, M.S. Cotelli, M. Turla, C. Casali, A. Padovani, B. Borroni, Brain Stimulation, Available online 3 November 2016, IS...
Monday, November 28, 2016

Doubts About Therapy for Neurological Diseases With Antisense Oligonucleotides

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Satyakam Bhagavati, MD, JAMA Neurol. Published online October 31, 2016. doi:10.1001/jamaneurol.2016.4332 The review by Corey1 and the acc...
Sunday, November 27, 2016

Challenges ahead for trials in Friedreich’s ataxia

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David R Lynch, Elizabeth Kichula, The Lancet Neurology, Volume 15, Issue 13, December 2016, Pages 1300-1301, ISSN 1474-4422, doi:10.1016/S14...

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

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Kathrin Reetz, Imis Dogan, Ralf-Dieter Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Durr, Sylvia Boesch, Thomas Klopstock, Francisco ...