Saturday, July 16, 2011

Long Range Regulation of Human FXN Gene Expression

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PLoS ONE 6(7): e22001. doi:10.1371/journal.pone.0022001 Puspasari N, Rowley SM, Gordon L, Lockhart PJ, Ioannou PA, Delatycki MB, Sarsero J...
Friday, July 15, 2011

Neurodegeneration with brain iron accumulation - Clinical Syndromes And Neuroimaging -

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Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease Article in Press, doi:10.1016/j.bbadis.2011.06.016 Hyman M. Schipper, ...
Wednesday, July 13, 2011

Disabilità e terapia occupazionale nei pazienti con atassia di Friedreich

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G Ital Med Lav Erg 2011; 33:2, 201-204 Irene Ciancarelli1,2, Vincenza Cofini1, Antonio Carolei3 1 Dipartimento di Medicina Interna e Sani...
Tuesday, July 12, 2011

Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental Levels

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PLoS ONE 6(7): e21017. doi:10.1371/journal.pone.0021017 OPEN ACCESS Juan A. Navarro1#, José V. Llorens2,3#*, Sirena Soriano2, José A. Bo...
Monday, July 11, 2011

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

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Nucl. Acids Res. (2011) doi: 10.1093/nar/gkr542 First published online: July 10, 2011 Eunah Kim1,2, Marek Napierala1,2,* and Sharon Y. R. ...
Friday, July 8, 2011

Update on degenerative ataxias.

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Curr Opin Neurol. 2011 Aug;24(4):339-45. Klockgether T. Department of Neurology, University Hospital Bonn and German Center for Neurodege...

The Frataxin Homologue Fra Plays a Key Role in Intracellular Iron Channeling in Bacillus subtilis

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ChemBioChem, 12: n/a. doi: 10.1002/cbic.201100190 Albrecht, A. G., Landmann, H., Nette, D., Burghaus, O., Peuckert, F., Seubert, A., Miethk...

The Potential Investment Impact of Improved Access to Accelerated Approval on the Development of Treatments for Low Prevalence Rare Diseases

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Orphanet Journal of Rare Diseases 2011, 6:49 (6 July 2011) Miyamoto BE, Kakkis ED OPEN ACCESS FULL TEXT PDF
Tuesday, July 5, 2011

Accelerating access to treatments for rare diseases

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Nature Reviews Drug Discovery 10, 475-476 (July 2011) | doi:10.1038/nrd3493 Marc Dunoyer Changes in regulatory policy and legislative inc...
Friday, July 1, 2011

Gait Pattern in Inherited Cerebellar Ataxias.

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Cerebellum. 2011 Jun 30. [Epub ahead of print] Serrao M, Pierelli F, Ranavolo A, Draicchio F, Conte C, Don R, Di Fabio R, Lerose M, Padua ...