Tuesday, April 19, 2016

Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia

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Subrahamanyam Dantham, Achal K. Srivastava, Sheffali Gulati, Moganty R. Rajeswari, Journal of the Neurological Sciences, Available online 14...
Monday, April 18, 2016

Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia

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Belén Mollá, Fátima Riveiro, Arantxa Bolinches-Amorós, Diana C. Muñoz-Lasso, Francesc Palau, Pilar González-Cabo. Disease Models and Mechani...
Sunday, April 17, 2016

Original Research Proposal: Creation of an Iron Sensing FXN mRNA Therapeutic Riboswitch for the Treatment of Friedreich's Ataxia

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Stephanie Mack, Das Research Group, Department of Chemistry, Carnegie Mellon University  Location: Mellon Institute Room 355

Development of an AAV9 coding for a 3XFLAG-TALEfrat#8-VP64 able to increase in vivo the human frataxin in YG8R mice

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P Chapdelaine, C Gérard, N Sanchez, K Cherif, J Rousseau, D L Ouellet, D Jauvin and J P Tremblay. Gene Ther. accepted article preview 2016 A...
Saturday, April 16, 2016

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia

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Hayashi G, Cortopassi G. PLoS ONE 11(4): e0153574. doi:10.1371/journal.pone.0153574 OPEN ACCESS This work demonstrates that the mRNA abu...
Friday, April 15, 2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency

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Julianna E. Shinnick, Kimberly Schadt, Cassandra Strawser, Nicholas Wilcox, Susan L. Perlman, George R. Wilmot, Christopher M. Gomez, Kather...
Thursday, April 14, 2016

Researchers from Mount Sinai and Sage Bionetworks Report Analysis of Nearly 600,000 Genomes for Resilience Project

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Icahn School of Medicine at Mount Sinai, New York, NY – April 11, 2016 /Press Release/ –– As part of a global collaboration, scientists...
Wednesday, April 13, 2016

Interview with Dr. Javier Diaz-Nido talking about Friedreich's Ataxia (SPA)

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Spanish   From minute 3.40 until minute 15 http://mvod.lvlt.rtve.es/resources/TE_SENTREP/mp3/7/0/1460534569907.mp3  http...

Italian program for independent research on drugs: 10 year follow-up of funded studies in the area of rare diseases

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Giuseppe Traversa, Lucia Masiero, Luciano Sagliocca and Francesco Trotta. Orphanet Journal of Rare Diseases 2016 11:36 DOI: 10.1186/s13023-0...
Tuesday, April 12, 2016

Statistical Enrichment of Epigenetic States Around Triplet Repeats that Can Undergo Expansions

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Alexandra Essebier, Patricia Vera Wolf, Minh Duc Cao, Bernard J. Carroll, Sureshkumar Balasubramanian and Mikael Bodén, Front. Neurosci., 08...