Friday, March 23, 2012

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model

›
Hum. Mol. Genet. (2012) doi: 10.1093/hmg/dds110 First published online: March 23, 2012 Barbara Tomassini1, Gaetano Arcuri1, Silvia Fortuni...
Thursday, March 22, 2012

Mitochondrial quality control: a matter of life and death for neurons

›
The EMBO Journal (2012) 31, 1336 - 1349, doi:10.1038/emboj.2012.38 Elena I Rugarli 1,2 and Thomas Langer 2,3,4 1 Institute for Zoology, U...

Monogenic Mitochondrial Disorders

›
N Engl J Med 2012; 366:1132-1141March 22, 2012 Werner J.H. Koopman, Ph.D., Peter H.G.M. Willems, Ph.D., and Jan A.M. Smeitink, Ph.D. From...

The many faces of insulin-like peptide signalling in the brain

›
Nature Reviews Neuroscience 13, 225-239 (April 2012) | doi:10.1038/nrn3209 Ana M. Fernandez & Ignacio Torres-Alemán Keywords: insuli...
Tuesday, March 20, 2012

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

›
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

›
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

›
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

›
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

›
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.

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