Monday, March 20, 2023

Ataxia Scales for the Clinical Evaluation

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Bürk, K. (2023). Ataxia Scales for the Clinical Evaluation. In: Gruol, D.L., Koibuchi, N., Manto, M., Molinari, M., Schmahmann, J.D., Shen, ...
Saturday, March 18, 2023

A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia

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Rodden, L. N., Rummey, C., Kessler, S., Wilson, R. B., & Lynch, D. R. (2023). A Novel Metric for Predicting Severity of Disease Features...
Wednesday, March 15, 2023

Vesigen Therapeutics Awarded Grant from Friedreich’s Ataxia Research Alliance (FARA) to Develop a Targeted Genome Editing Therapeutic Strategy

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March 14 2023. Vesigen Therapeutics, a biotechnology company developing targeted therapies by engineering a distinct class of human extracel...
Monday, March 6, 2023

Sensoren in der Kleidung plus KI: Erfolgversprechende Diagnosetechnologie: Bei Friedreich-Ataxie und Duchenne-Muskeldystrophie getestet

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Patzer, K.-H. (2023). Sensoren in der Kleidung plus KI: Erfolgversprechende Diagnosetechnologie: Bei Friedreich-Ataxie und Duchenne-Muskeldy...

CRISPR/Cas9-based edition of frataxin gene in Dictyostelium discoideum for Friedreich’s Ataxia disease modeling

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Gentili, H. G., Pignataro, M. F., Olmos, J., Pavan, M. F., Ibanez, L. I., Santos, J., & Velazquez, F. (2023). CRISPR/Cas9-based edition ...

Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia

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Kerestes, R., Cummins, H., Georgiou-Karistianis, N., Selvadurai, L. P., Corben, L. A., Delatycki, M. B., Egan, G. F., & Harding, I. H. (...
Saturday, March 4, 2023

Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties

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Dionisi, C., Chazalon, M., Rai, M., Keime, C., Imbault, V., Communi, D., Puccio, H., Schiffmann, S. N., & Pandolfo, M. (2023). Proprioce...
Wednesday, March 1, 2023

FDA has approved Skyclarys (omaveloxolone) as the first treatment for Friedreich’s ataxia

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  FDA approves first treatment for Friedreich’s ataxia FDA Widens Path for Rare-Disease Treatments With New Approval Reata Pharmaceuticals A...
Sunday, February 26, 2023

Strategic discussion on funding and access to therapies targeting rare diseases in Spain: an expert consensus paper

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Zozaya, N., Villaseca, J., Abdalla, F., Ancochea, A., Málaga, I., Trapero-Bertran, M., … Hidalgo-Vega, A. (2023). Strategic discussion on fu...
Thursday, February 23, 2023

Ataxia de friedreich, revisión bibliográfica

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Investigación, R. S. (2023, febrero 22). Ataxia de friedreich, revisión bibliográfica. Recuperado el 23 de febrero de 2023, de ▷ RSI - Revis...