Thursday, August 30, 2012

Friedreich’s ataxia in patients with FXN p.R165P point mutation

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Friedreich’s ataxia in patients with FXN p.R165P point mutation . E. Ygland, F. Taroni, C. Gellera, M. Duno, P. Johnels, M. Soller, A. Pusch...

Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population.

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Friedreich’s ataxia with GAA expansion and ataxia with vitamin E deficiency with 744 DelA mutation in a Moroccan population. F. Imounan, N....

T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia

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T.P.15 An open label clinical pilot study of resveratrol as a treatment for Friedreich ataxia . E.M. Yiu, R. Peverill, G. Tai, C. Stockley, ...
Tuesday, August 28, 2012

"SILEC: A new tool to study mitochondrial and metabolic disease"

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"SILEC: A new tool to study mitochondrial and metabolic disease" . Sankha S Basu, University of Pennsylvania (January 1, 2012). Di...

A Review of Friedreich Ataxia Clinical Trial Results

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A Review of Friedreich Ataxia Clinical Trial Results ; Susan L. Perlman, MD; J Child Neurol September 2012 vol. 27 no. 9 1217-1222, doi: 10....
Saturday, August 25, 2012

Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich

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Resonancia Magnética Nuclear de cráneo en primeras familias cubanas diagnosticadas con ataxia de Friedreich ; Tania Cruz Mariño, José Albert...
Friday, August 24, 2012

DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion

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DNA Mismatch Repair Complex MutSβ Promotes GAA·TTC Repeat Expansion ; Anasheh Halabi, Scott Ditch, Jeffrey Wang, and Ed Grabczyk; J. Biol. C...
Thursday, August 23, 2012

Hypertrophic Cardiomyopathy–What Is New?

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Hypertrophic Cardiomyopathy–What Is New? ; P. Gregor, K. Curila; Cor et Vasa, Available online 22 August 2012, ISSN 0010-8650, 10.1016/j.crv...
Tuesday, August 21, 2012

MDA Commits $10.7 Million to Neuromuscular Disease Research

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QUEST, MDA'S Research & Health Magazine; July-September 2012 Issue, Tuesday August 21, 2012 Friedreich's Ataxia-specific grant...

Fellowship: Transcriptional control of the frataxin gene

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Fellowship posted by Italian Ministry of Education, University and Research (21/08/2012 02.19). European Research Council funded fellowship ...