Monday, October 12, 2015

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

›
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

›
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

›
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

›
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

›
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

›
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

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

Monitoring Cardiac Function During Idebenone Therapy in Friedreich's Ataxia

›
Di Salvo Giovanni, Pergola Valeria, Fadel Bahaa and Al Fayyadh Majid, Current Pharmaceutical Design 21-4, Page: [479 - 483] DOI: 10.2174/138...
Saturday, September 26, 2015

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

›
Yanjie Li, Yue Lu, Urszula Polak, Kevin Lin, Jianjun Shen, Jennifer Farmer, Lauren Seyer, Angela D. Bhalla, Natalia Rozwadowska, David R. Ly...
Thursday, September 24, 2015

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia

›
Chutake YK, Costello WN, Lam CC, Parikh AC, Hughes TT, Michalopulos MG, Mark A. Pook, Sanjay I. Bidichandani. (2015) FXN Promoter Silencing...