Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

Friday, January 6, 2012

New Clinical Trial in Friedreich's Ataxia in Italy

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FARA, January 5, 2012 -- The Italian Health Ministry and the Ethics Committee of the San Luigi Hospital in Torino, Italy, have given investi...
Wednesday, January 4, 2012

Erythropoietin in friedreich ataxia: No effect on frataxin in a randomized controlled trial

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Movement Disorder, Article first published online: 4 JAN 2012 | DOI: 10.1002/mds.24066 Caterina Mariotti, Roberto Fancellu, Serena Caldaraz...
Monday, January 2, 2012

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

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Nucleic Acids Research, 2012, Vol. 40, No. 1 11–26 doi:10.1093/nar/gkr729 Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak, Marzena Wojciecho...
Thursday, December 29, 2011

Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.

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Biochim Biophys Acta. 2011 Nov 11;1822(2):212-225 Bulteau AL, Planamente S, Jornea L, Dur A, Lesuisse E, Camadro JM, Auchère F. CRICM-INS...
Wednesday, December 28, 2011

Small Molecules Mimicking Key Brain Growth Factor Identified By Study

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Stanford University Medical Center. The patents for these four compounds are held by the University of North Carolina and UCSF, where Long...
Thursday, December 22, 2011

DEFINITION OF THE LANDSCAPE OF CHROMATIN STRUCTURE AT THE FRATAXIN GENE IN FRIEDREICH’S ATAXIA

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UT GSBS Dissertations and Theses, 12/2011 Keywords: Epigenetics, Chromatin Structure, Histone Modification, Frataxin, FRDA, Neurodegenerat...
Wednesday, December 21, 2011

Orphan designation interferon gamma for the treatment of Friedreich’s ataxia.

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On 9 December 2011, orphan designation (EU/3/11/935) was granted by the European Commission to Prof. Roberto Testi, Italy, for interferon ga...

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

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Molecular Genetics and Metabolism, In Press, Corrected Proof, doi:10.1016/j.ymgme.2011.11.193 Michael J. Goldenthal a, b, Teddy Kuruvilla ...
Friday, December 16, 2011

Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach

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International Journal of Language & Communication Disorders. doi: 10.1111/j.1460-6984.2011.00078.x Folker, J. E., Murdoch, B. E., Rose...

Efficacy Study of Epoetin Alfa in Friedreich Ataxia (FRIEMAX)

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ClinicalTrials.gov Identifier: NCT01493973 Sponsor: Federico II University Collaborators: Friedreich's Ataxia Research Alliance (F...
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