The Repeat Expansion Diseases: the dark side of DNA repair?

The Repeat Expansion Diseases: the dark side of DNA repair?, DNA Repair. Xiao-Nan Zhao, Karen Usdin, Available online 30 April 2015, ISSN 1568-7864, http://dx.doi.org/10.1016/j.dnarep.2015.04.019.

Probing disorders of the nervous system using reprogramming approaches

Probing disorders of the nervous system using reprogramming approaches. Justin K Ichida, Evangelos Kiskinis, The EMBO Journal (2015) embj.201591267 DOI 10.15252/embj.201591267

Perhaps the seemingly biggest advantage of this approach—the ability to study disease in the genetic background of the patient—has created the biggest challenge, as genetic background contributes to high variability in the properties of the patient‐derived cells. This variability is a reality that neurologists have been facing for years, as often, two patients diagnosed with the same condition might present with very different clinical profiles. The technology of cellular reprogramming has brought this reality of clinical heterogeneity seen in patients from the bedside to the lab bench.

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Cardiomyopathy in a dish: Using human inducible pluripotent stem cells to model inherited cardiomyopathies

Cardiomyopathy in a dish: Using human inducible pluripotent stem cells to model inherited cardiomyopathies. Forum Kamdar, Andre Klaassen Kamdar, Naoko Koyano-Nakagawa, Mary G. Garry, Daniel J. Garry, Journal of Cardiac Failure, Available online 28 April 2015, ISSN 1071-9164, http://dx.doi.org/10.1016/j.cardfail.2015.04.010.

Novel aberrant genetic and epigenetic events in Friedreich´s ataxia

Novel aberrant genetic and epigenetic events in Friedreich´s ataxia. Mari Paz Quesada, Jonathan Jones, F.J. Rodríguez-Lozano, Jose M. Moraleda, Salvador Martinez, Experimental Cell Research, Available online 28 April 2015, ISSN 0014-4827, http://dx.doi.org/10.1016/j.yexcr.2015.04.013.

Application de la méthodologie bayésienne a un essai clinique de petit effectif. Exemple de l’essai ACTFRIE : étude de l’effet de la pioglitazone dans l’ataxie de Friedreich

Application de la méthodologie bayésienne a un essai clinique de petit effectif. Exemple de l’essai ACTFRIE : étude de l’effet de la pioglitazone dans l’ataxie de Friedreich. B. Andriss, I. Husson, S. Guilmin Crepon, E. Jacqz-Aigrain, S. Zohar, C. Alberti; Revue d'Épidémiologie et de Santé Publique, Volume 63, Supplement 2, May 2015, Page S63, ISSN 0398-7620, http://dx.doi.org/10.1016/j.respe.2015.03.058.
(http://www.sciencedirect.com/science/article/pii/S0398762015002047)

Study of beta cells and neurons indicate incretin analogs as potential therapeutics for Friedreich’s ataxia

Study of beta cells and neurons indicate incretin analogs as potential therapeutics for Friedreich’s ataxia. Massimo Pandolfo, Mariana Igoillo-Esteve, Amélie Hu, Ewa Gurgul-Convey, Laila Romagueira Bichara Dos Santos, Jonas Jean-Christophe, Decio Eizirik, and Miriam Cnop; Neurology April 6, 2015 84:14 Supplement S32.005; 1526-632X

Magnetic Resonance is more sensitive than Echocardiography to detect Cardiomyopathy in Friedreich’s Ataxia.

Magnetic Resonance is more sensitive than Echocardiography to detect Cardiomyopathy in Friedreich’s Ataxia. Alberto Martinez, Ingrid Faber, Thiago Rezende, Cynthia Bonilha Da Silva, Thiago Venâncio, Anelyssa D'Abreu, Iscia Lopes-Cendes, Otávio Coelho-Filho, and Marcondes Franca, Jr.; Neurology April 6, 2015 84:14 Supplement P2.121; 1526-632X

Diagnosis of Friedreich’s Ataxia in Late-Onset Progressive Cerebellar Ataxia

Diagnosis of Friedreich’s Ataxia in Late-Onset Progressive Cerebellar Ataxia. Roisin Lonergan, Damien Ferguson * Joint first author with RL, Susan Byrne, David Bradley, Yvonne Langan, and Janice Redmond; Neurology April 6, 2015 84:14 Supplement P2.119; 1526-632X

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients

Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients. Agessandro Abrahao, Jose Luiz Pedroso, Patricia de Carvalho Aguiar, and Orlando Barsottini; Neurology April 6, 2015 84:14 Supplement P2.122; 1526-632X

Correlation of GAITRite Walkway System and Biodex Balance System Measures to the FARS Score in Friedreich's Ataxia Patients: A Validation Study

Correlation of GAITRite Walkway System and Biodex Balance System Measures to the FARS Score in Friedreich's Ataxia Patients: A Validation Study. Theresa Zesiewicz, Seok Kim, Clifton Gooch, Jennifer Farmer, Yangxin Huang, Jason Salemi, Israt Jahan, Kelly Sullivan, Lynn Wecker, and Jeannie Stephenson; Neurology April 6, 2015 84:14 Supplement P2.123; 1526-632X