Tuesday, March 20, 2012

High Resolution Melting: improvements in the genetic diagnosis of Hypertrophic Cardiomyopathy in a Portuguese cohort

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BMC Medical Genetics 2012, 13:17 doi:10.1186/1471-2350-13-17 Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira ...
Thursday, March 15, 2012

Repligen Initiates Phase 1 Clinical Trial of RG2833 in Patients with Friedreich's Ataxia

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WALTHAM, MA - March 15, 2012 - Repligen Corporation (NASDAQ:RGEN) announced today that it has enrolled its first patient in a Phase 1 clinic...

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

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European Journal of Human Genetics (2012) 20, 368–375; doi:10.1038/ejhg.2011.202. Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, ...

Do we always prioritize balance when walking? Towards an integrated model of task prioritization

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Mov. Disord.. doi: 10.1002/mds.24963 Yogev- Seligmann, G., Hausdorff, J. M. and Giladi, N. (2012), . Keywords: dual task, postural contr...
Wednesday, March 14, 2012

Expression of axonal protein degradation machinery in sympathetic neurons is regulated by nerve growth factor

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J. Neurosci. Res.. (2012) doi: 10.1002/jnr.23041 Frampton, J. P., Guo, C. and Pierchala, B. A. Keywords: proteasome, lysosome, NGF, tran...

Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.

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J Child Neurol. 2012 Mar 8. [Epub ahead of print] Snyder M, Seyer L, Lynch DR, Resnick A, Zesiewicz TA. Keywords: Friedreich ataxia, gai...
Tuesday, March 13, 2012

Exonic Deletions of FXN and Early-Onset Friedreich Ataxia

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Arch Neurol. Published online March 12, 2012. doi:10.1001/archneurol.2011.834 Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick C...

The effect of lipoic acid and vitamin E therapies in individuals with the metabolic syndrome

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Although there are large differences between FA and the metabolic syndrome, mitochondrial function is significantly impaired in both. Many ...
Friday, March 9, 2012

Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 Diabetes Mellitus.

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Horm Metab Res. 2012 Mar 7. [Epub ahead of print] Del Guerra S, D'Aleo V, Gualtierotti G, Pandolfi R, Boggi U, Vistoli F, Barnini S, F...
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