Friedreich Ataxia Scientific News
Friedreich Ataxia and close related scientific news. Topics related to rare diseases.
Thursday, May 8, 2014
Shining a light in the black box of orphan drug pricing
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Shining a light in the black box of orphan drug pricing . Eline Picavet, Thomas Morel, David Cassiman and Steven Simoens; Orphanet Journal ...
Wednesday, May 7, 2014
Mitochondrial dysfunction affecting visual pathways
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Mitochondrial dysfunction affecting visual pathways . S. Leruez, P. Amati-Bonneau, C. Verny, P. Reynier, V. Procaccio, D. Bonneau, D. Milea,...
Monday, May 5, 2014
Perspectives of drug-based neuroprotection targeting mitochondria
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Perspectives of drug-based neuroprotection targeting mitochondria , V. Procaccio, C. Bris, J.M. Chao de la Barca, F. Oca, A. Chevrollier, P....
Genetics of mitochondrial respiratory chain deficiencies
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Genetics of mitochondrial respiratory chain deficiencies , A. Rötig, Revue Neurologique, Available online 3 May 2014, ISSN 0035-3787, http:/...
The brain is hypothermic in patients with mitochondrial diseases
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The brain is hypothermic in patients with mitochondrial diseases . Mario Rango, Andrea Arighi, Cristiana Bonifati, Roberto Del Bo, Giacomo C...
Friday, May 2, 2014
R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome
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R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome . Groh M, Lufino MMP, ...
Thursday, May 1, 2014
Nicotinamide in Friedreich's ataxia: useful or not?
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Nicotinamide in Friedreich's ataxia: useful or not? . The Lancet, Available online 30 April 2014, ISSN 0140-6736, http://dx.doi.org/10.1...
Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment
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Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment Ataxia-UK Press release: 1st May 2014
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study
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Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-labe...
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia
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Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia . C. Bonilha da Silva, F. P. G. Bergo, A. D'A...
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