Wednesday, March 7, 2012

Small biotechs raring to cash in on the orphan disease market

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Nature Medicine 18, 330–331 (2012), doi:10.1038/nm0312-330
Tuesday, March 6, 2012

Friedreich’s Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase

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Hum. Mol. Genet. (2012) doi: 10.1093/hmg/dds095 First published online: March 6, 2012 Gregory R. Wagner 1, P. Melanie Pride 2, Clifford M....
Sunday, March 4, 2012

Confused by genetic tests? NIH’s new online tool may help

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An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic...
Friday, March 2, 2012

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

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Dis. Model. Mech. March 2012, doi: 10.1242/dmm.009019 vol. 5 no. 2 155-164 Tracey A. Rouault National Institute of Child Health and Human...

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

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Dis. Model. Mech. March 2012, doi: 10.1242/dmm.008706 vol. 5 no. 2 165-176 Alain Martelli 1,2,3,4,5, Marek Napierala 6 and Hélène Puccio 1...
Thursday, March 1, 2012

Cardiomyopathy in Friedreich's Ataxia: Exemplifying the Challenges Faced by the Cardiologists in the Management of Rare Diseases

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CIRCULATIONAHA.112.095364 Published online before print February 29, 2012, doi: 10.1161/​CIRCULATIONAHA.112.095364 Morten Kvistholm Jensen...

Cardiomyopathy of Friedreich's Ataxia (FRDA).

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Ir J Med Sci. 2012 Feb 29. [Epub ahead of print] Payne RM, Peverill RE. Indiana University School of Medicine, 1044 W Walnut, R4-302, Ind...

Selecting and isolating colonies of human induced pluripotent stem cells reprogrammed from adult fibroblasts.

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J Vis Exp. 2012 Feb 20;(60). pii: 3416. doi: 10.3791/3416. Polak U, Hirsch C, Ku S, Gottesfeld J, Dent SY, Napierala M. Department of Mol...

The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation with Neurological Symptoms

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CIRCULATIONAHA.111.059477, Published online before print February 29, 2012, doi: 10.1161/​CIRCULATIONAHA.111.059477 Original Research ...
Wednesday, February 29, 2012

Modelling Friedreich's Ataxia Using Human Induced Pluripotent Stem Cells

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The Scripps Research Institute Graduate Program. Thesis for the degree of Doctor of Philosophy in the subject of Biology.La Jolla,California...