Monday, October 19, 2015

Compassionate use of orphan drugs

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Hanna I. Hyry, Jeremy Manuel, Timothy M. Cox and Jonathan C. P. Roos; Orphanet Journal of Rare Diseases 2015, 10:100 doi:10.1186/s13023-015...
Sunday, October 18, 2015

Patient-Funded Trials: Opportunity or Liability?

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Danielle Marie Wenner, Jonathan Kimmelman, Alex John London, Patient-Funded Trials: Opportunity or Liability?, Cell Stem Cell, Volume 17, Is...
Thursday, October 15, 2015

Next generation partnerships in translational science and medicine

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Hans‐Gustaf Ljunggren, Kenneth R Chien, EMBO reports (2015) 16, 1246-1249 DOI 10.15252/embr.201541065 Partnerships between academics, big ...
Monday, October 12, 2015

María Dolores Moltó: “La investigación en ataxia de Friedreich se dirige hacia la obtención de tratamientos efectivos”

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Por GENÉTICA MÉDICA · 11 de octubre de 2015 ¿Estamos más cerca de un tratamiento efectivo? Si pensamos que cuando se identificó el gen n...

A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency

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Alexandra Seguin, Véronique Monnier, Amandine Palandri, Frédéric Bihel, Michael Rera, Martine Schmitt, Jean-Michel Camadro, Hervé Tricoire, ...
Saturday, October 10, 2015

Acoustic Analyses of Prolonged Vowels in Young Adults With Friedreich Ataxia

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Cecyle Carson, Jack Ryalls, Kaylea Hardin-Hollingsworth, Marie-Therese Le Normand, Bari Ruddy, Journal of Voice, Available online 9 October ...
Tuesday, October 6, 2015

Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular polyneuropathy: questionnaire assessment

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Marek Napiontek , Krzysztof Pietrzak; European Journal of Orthopaedic Surgery & Traumatology February 2015, Volume 25, Issue 2, pp 391-3...
Monday, October 5, 2015

Pathology of Intercalated Discs in Friedreich Cardiomyopathy

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R. Liane Ramirez, MS; Alyssa B. Becker, BA; Joseph E. Mazurkiewicz, PhD; Paul J. Feustel, PhD; Benjamin B. Gelman, MD, PhD; Arnulf H. Koeppe...
Friday, October 2, 2015

Cold Denaturation Unveiled: the Molecular Mechanism of Asymmetric Unfolding of Yeast Frataxin

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Domenico Sanfelice, Edoardo Morandi, Annalisa Pastore, Neri Niccolai andPiero Andrea Temussi; ChemPhysChem 1439-7641 (2015), DOI 10.1002/cp...
Monday, September 28, 2015

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

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Francoise Pousset, MD; Lise Legrand, MD; Marie-Lorraine Monin, MD; Claire Ewenczyk, MD; Perrine Charles, MD, PhD; Michel Komajda, MD; Alexis...