Friedreich Ataxia Scientific News

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

Wednesday, June 15, 2016

Obstructive Form of Hypertrophic Cardiomyopathy-Left Ventricular Outflow Tract Gradient: Novel Methods of Provocation, Monitoring of Biomarkers, and Recent Advances in the Treatment.

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Pawel Petkow Dimitrow and Renata Rajtar-Salwa. Biomed Res Int. 2016; 2016: 1575130. Published online 2016 May 10. doi: 10.1155/2016/1575130...
Tuesday, June 14, 2016

STEADFAST Long-Term Safety Extension

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ClinicalTrials.gov. First received: June 2, 2016. ClinicalTrials.gov Identifier: NCT02797080. Sponsor: Horizon Pharma Ireland, Ltd., Dublin ...
Monday, June 13, 2016

Oxidative Stress and altered lipid metabolism in Friedreich ataxia

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Jordi Tamarit, Èlia Obis, Joaquim Ros, Free Radical Biology and Medicine, Available online 11 June 2016, ISSN 0891-5849, doi: 10.1016/j.free...
Saturday, June 11, 2016

Classifications of neurogenetic diseases: An increasingly complex problem

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J.-M. Vallat, C. Goizet, M. Tazir, P. Couratier, L. Magy, S. Mathis. Revue Neurologique, Available online 27 May 2016, ISSN 0035-3787, doi:o...
Friday, June 10, 2016

NRF2 activators: how do they work and how advanced is their clinical use?

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Antonio Cuadrado, Free Radical Biology and Medicine, Volume 96, Supplement 1, July 2016, Pages S6-S7, ISSN 0891-5849, doi:10.1016/j.freeradb...
Thursday, June 9, 2016

Responsible implementation of expanded carrier screening

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Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra ...
Wednesday, June 8, 2016

Histone deacetylase inhibitors modulating non-epigenetic players: The novel molecular targets for therapeutic intervention

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Shabir Ahmad Ganai. Current Drug Targets, Volume 17 DOI: 10.2174/1389450117666160527143257 Emerging evidences suggest that acetylation of ...
Tuesday, June 7, 2016

Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers

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T. Morel, S. Aymé, D. Cassiman, S. Simoens, M. Morgan and M. Vandebroek. Orphanet Journal of Rare Diseases 2016 DOI: 10.1186/s13023-016-044...
Monday, June 6, 2016

The hereditary ataxias: Where are we now? Four decades of local research

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D C Smith, L J Greenberg, A Bryer. South African Medical Journal 2016;106(6):S38. DOI:10.7196/SAMJ.2016.v106i6.10989 The hereditary ataxia...
Sunday, June 5, 2016

The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy

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Arnulf H. Koeppen, Alyssa B. Becker, Paul J. Feustel, Benjamin B. Gelman, Joseph E. Mazurkiewicz. Journal of the Neurological Sciences, Avai...
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