Friedreich Ataxia Scientific News
Friedreich Ataxia and close related scientific news. Topics related to rare diseases.
Tuesday, June 4, 2024
Microfluidic Formulation of Diazoxide-Loaded Solid Lipid Nanoparticles as a Novel Approach for Friedreich's Ataxia Treatment
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Ilaria Arduino, Antonella Santoro, Silvia De Santis, Rosa Maria Iacobazzi, Angela Assunta Lopedota, Eleonora Paradies, Giuseppe Merla, Sara ...
Monday, June 3, 2024
The Mechanism of Folding of Human Frataxin in Comparison to the Yeast Homologue - Broad Energy Barriers and the General Properties of the Transition State
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Pietrangeli P, Marcocci L, Pennacchietti V, Diop A, Di Felice M, Pagano L, Malagrinò F, Toto A, Brunori M, Gianni S. The Mechanism of Foldin...
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
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Mahdieh N, Heidari M, Rezaei Z, et al. The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heter...
Mitochondrial calcium regulation of cardiac metabolism in health and disease
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Balderas E, Lee SH, Rai NK, et al. Mitochondrial calcium regulation of cardiac metabolism in health and disease. Physiology (Bethesda, Md.)....
Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics
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Mahale R, Purushottam M, Singh R, Yelamanchi R, Kamble N, Holla V, Pal PK, Jain S, Yadav R. Revisiting Friedreich's Ataxia: Phenotypic a...
Mapping Novel Frataxin Mitochondrial Networks Through Protein- Protein Interactions
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Etienne Gnimpieba, D M Diing, Jared Ailts et al. Mapping Novel Frataxin Mitochondrial Networks Through Protein- Protein Interactions, 26 Apr...
Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview
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Mantle D, Hargreaves IP. Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview. Antioxidants (B...
Sunday, June 2, 2024
CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs in the Management of the Ataxias
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Perlman SL. CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs i...
Requirements for the biogenesis of [2Fe-2S] proteins in the human and yeast cytosol
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Braymer JJ, Stehling O, Stümpfig M, et al. Requirements for the biogenesis of [2Fe-2S] proteins in the human and yeast cytosol. Proceedings ...
Friday, May 31, 2024
Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement
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Peverill RE, Lin KY, Fogel MA, Cheung MMH, Moir WS, Corben LA, et al. (2024) Insights into the effects of Friedreich ataxia on the left vent...
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