Friedreich Ataxia Scientific News

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

Friday, December 13, 2024

Ignition of Small Molecule Inhibitors in Friedreich's Ataxia with Explainable Artificial Intelligence

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Kübra Kirboğa, K., Küçüksille, E., & Kose, U. (2023). Ignition of Small Molecule Inhibitors in Friedreich's Ataxia with Explainable ...
Thursday, December 12, 2024

Altered calcium responses and antioxidant properties in Friedreich's ataxia-like cerebellar astrocytes

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Marullo, Chiara & Croci, Laura & Giupponi, Iris & Rivoletti, Claudia & Zuffetti, Sofia & Bettegazzi, Barbara & Cremo...
Tuesday, December 10, 2024

Sexual dimorphism in a mouse model of Friedreich's ataxia with severe cardiomyopathy

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Salinas L, Montgomery CB, Figueroa F, Thai PN, Chiamvimonvat N, Cortopassi G, Dedkova EN. Sexual dimorphism in a mouse model of Friedreich...

Lack of Concentration-QTc Relationship and Cardiac Risk With Vatiquinone Therapeutic and Supratherapeutic Doses

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Lee L, Flach S, Xue H, Arivelu L, Golden L, Kong R, Darpo B. Lack of Concentration-QTc Relationship and Cardiac Risk With Vatiquinone Therap...

Friedreich Ataxia

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Bidichandani SI, Delatycki MB, Napierala M, Duquette A. Friedreich Ataxia. 1998 Dec 18 [updated 2024 Oct 31]. In: Adam MP, Feldman J, Mirzaa...

Efficacy of Stabilometric Platform to Improve Standing Balance in Patients with Friedreich's Ataxia

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ClinicalTrials.gov ID NCT06692296. Sponsor IRCCS Eugenio Medea. Last Update Posted 2024-11-21 The primary objective is to evaluate the poten...

Omaveloxolone for the Treatment of Friedreich Ataxia: Efficacy, Safety, and Future Perspectives

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Naghipour S, Corben LA, Hulme AJ, Dottori M, Delatycki MB, Lees JG, Lim SY. Omaveloxolone for the Treatment of Friedreich Ataxia: Efficacy, ...

Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN

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Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala ...

Recurrent DNA nicks drive massive expansions of (GAA)n repeats

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Li L, Scott WS, Khristich AN, Armenia JF, Mirkin SM. Recurrent DNA nicks drive massive expansions of (GAA)n repeats. Proc Natl Acad Sci U S ...

Two-stage binding of mitochondrial ferredoxin-2 to the core iron-sulfur cluster assembly complex

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Steinhilper R, Boß L, Freibert SA, Schulz V, Krapoth N, Kaltwasser S, Lill R, Murphy BJ. Two-stage binding of mitochondrial ferredoxin-2 to ...
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