Tuesday, June 3, 2025

Managing Aminotransferase Elevations in Patients with Friedreich Ataxia Treated with Omaveloxolone: A Review and Expert Opinion on Use Considerations

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Authors: Susan Perlman, Mathieu Anheim, Sylvia Boesch, James H. Lewis, David R. Lynch. Published in: Neurology and Therapy. doi:10.1007/s401...

EMA approved orphan medicines since the implementation of the orphan legislation

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Hahl, E., Kurko, T., Koskinen, H. et al. EMA approved orphan medicines since the implementation of the orphan legislation. Orphanet J Rare D...
Wednesday, May 28, 2025

Safety Monitoring of Omaveloxolone in Friedreich Ataxia: Results from One Year of Clinical Treatment

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Gunther, K., Profeta, V., Keita, M. et al. Safety Monitoring of Omaveloxolone in Friedreich Ataxia: Results from One Year of Clinical Treatm...
Monday, May 26, 2025

Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice

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Matuszek, Z., Arbab, M., Kesavan, M. et al. Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia re...

Impaired DNA double-strand breaks repair in Friedreich’s Ataxia fibroblasts

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Rafka Challita, Dana Tohme, Charbel Feghaly, Hanin Bou Hadir, Walaa Chebli, Elie Estephan, Rana El-Hassan, Sima Hussayni, Wassim Abou Kheir,...
Friday, May 23, 2025

Frataxin: from the sequence to the biological role

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Pignataro MF, Noguera ME, Herrera MG, Roman EA, Santos J. Frataxin: from the sequence to the biological role. Biophys Rev. 2025 Apr 3;17(2):...

Cerebellar grey matter volume predicts cerebellar tDCS efficacy in individuals with Friedreich ataxia

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Gilles Naeije, Christian Georgiev, Pierre Cabaraux, Mathieu Bourguignon; Cerebellar grey matter volume predicts cerebellar tDCS efficacy in ...

Predictive machine learning and multimodal data to develop highly sensitive, composite biomarkers of disease progression in Friedreich ataxia

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Saha, S., Corben, L.A., Selvadurai, L.P. et al. Predictive machine learning and multimodal data to develop highly sensitive, composite bioma...

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats

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Park, Joohyun, Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Lara G. Stühn, Caspar Gross, Marc Sturm, Stephan Oss...

Inhibition of Rho-associated kinases ROCK1 and ROCK2 as a Therapeutic Strategy to Reactivate the Repressed FXN Gene in Friedreich Ataxia

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Inhibition of Rho-associated kinases ROCK1 and ROCK2 as a Therapeutic Strategy to Reactivate the Repressed FXN Gene in Friedreich Ataxia. Mi...