Thursday, September 22, 2022

Diagnostic Delay and Clinical Features in Friedreich’s Ataxia

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Mehmet Fatih Yetkin, Murat Gültekin, Merve Akcakoyunlu, Recep Baydemir, Ayse Çağlar Sarılar, Mehmet Canpolat, Hüseyin Per; Turk Noroloji Der...
Wednesday, September 21, 2022

FRIEDREICH'S ATAXIA AND ITS CARDIOVASCULAR MANIFESTATIONS

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Bryam Esteban Coello Garcia, Karina Noemi Contreras Garcia, Priscila Jazmin Sarango Lapo, Tatiana Carolina Espinoza Coyago, Johanna Belen Il...
Monday, September 19, 2022

Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia

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M. Baile, D. Schecter, A. Miller, T. Galas, N. Scherer, R. Chen, N. Ruiz, D. Bettoun.; Mov Disord. 2022; 37 (suppl 1). Meeting: 2022 Interna...

Tissue Frataxin Increases After Administration of CTI-1601, a Frataxin Replacement Therapy in Development for the Treatment of Friedreich’s Ataxia

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D. Bettoun, T. Galas, D. Schecter, N. Ruiz, R. Clayton, J. Farmer.; Mov Disord. 2022; 37 (suppl 1).Meeting: 2022 International Congress  (S...
Saturday, September 17, 2022

Activation of a type I interferon response associated with acute frataxin knockdown in iPSC-derived cardiomyocytes

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Cotticelli MG, Xia S, Truitt R, Doliba NM, Rozo AV, Tobias JW, Lee T, Chen J, Napierala JS, Napierala M, Yang W, Wilson RB.; Dis Model Mech....
Thursday, September 15, 2022

The power and the promise of CRISPR/Cas9 genome editing for clinical application with gene therapy

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Ning Guo, Ji-Bin Liu, Wen Li, Yu-Shui Ma, Da Fu; Journal of Advanced Research, Volume 40, 2022, Pages 135-152, doi:10.1016/j.jare.2021.11.01...

A Study to Assess the Safety and Efficacy of Vatiquinone in Participants With Friedreich Ataxia

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ClinicalTrials.gov Identifier: NCT05515536 The primary objective of this study is to assess the long-term safety of vatiquinone in participa...

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method

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Friedlander, L., Vincent, M., Berdal, A. et al.; Orphanet J Rare Dis 17, 317 (2022). doi:10.1186/s13023-022-02467-7  Five networks we studie...

Resveratrol from Dietary Supplement to a Drug Candidate: An Assessment of Potential

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Khattar, Shivani, Sauban Ahmed Khan, Syed Amir Azam Zaidi, Mahdi Darvishikolour, Uzma Farooq, Punnoth Poonkuzhi Naseef, Mohamed Saheer Kurun...

Perspectives on current models of Friedreich's ataxia

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Kelekçi S, Yıldız AB, Sevinç K, Çimen DU, Önder T. Perspectives on current models of Friedreich's ataxia. Frontiers in Cell and Developm...