Wednesday, September 7, 2022

The C-Terminal Cross-linked Telopeptide of Type I Collagen (CTX-I) as a Potential Cardiomyopathy Biomarker in Friedreich Ataxia Patients

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Chiara Pane, Assunta Trinchillo, Andrea Salzano, Angela Marsili, Giorgia Puorro, Antonio Cittadini, Francesco Saccà & Cinzia Valeria Rus...
Tuesday, September 6, 2022

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

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Rodden LN, Rummey C, Dong YN, Lagedrost S, Regner S, Brocht A, Bushara K, Delatycki MB, Gomez CM, Mathews K, Murray S, Perlman S, Ravina B, ...
Wednesday, August 31, 2022

Hyperactivation of mTOR and AKT in a cardiac hypertrophy animal model of Friedreich ataxia

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Wing-Hang Tong, Hayden Ollivierre, Audrey Noguchi, Manik C. Ghosh, Danielle A. Springer, Tracey A. Rouault; Heliyon, Volume 8, Issue 8, 2022...
Tuesday, August 30, 2022

Respiratory Function in Friedreich’s Ataxia

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Vinante, E.; Colombo, E.; Paparella, G.; Martinuzzi, M.; Martinuzzi, A. Children 2022, 9, 1319. https://doi.org/10.3390/children9091319 Res...
Saturday, August 27, 2022

Preservation of bioenergetics and inhibition of ferroptosis with the novel compound SBT-588 in Friedreich’s ataxia cell models

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Laura E. Kropp, Hatim Zariwala, Yunmi Park, Martin Redmon, David A. Brown, Alyssa Handler; Biochimica et Biophysica Acta (BBA) - Bioenergeti...
Tuesday, August 23, 2022

Frataxin deficiency disrupts mitochondrial respiration and pulmonary endothelial cell function

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Miranda K Culley, Monica Mehta, Jingsi Zhao, Dror Perk, Yi Yin Tai, Ying Tang, Sruti Shiva, Marlene Rabinovitch, Mingxia Gu, Thomas Bertero,...
Saturday, August 20, 2022

A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich’s Ataxia

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Katherine Buesch & Rongrong Zhang (2022) , Current Medical Research and Opinion, DOI: 10.1080/03007995.2022.2112870  Findings from this ...
Wednesday, August 17, 2022

Direct utility of natural history data in analysis of clinical trials: Propensity match-based analysis of Omaveloxolone in Friedreich ataxia using the FA-COMS dataset

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David Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, martin delatycki, Paola Giunti, j chad Hoyle, Caterina Mari...
Thursday, August 11, 2022

Replication dependent and independent mechanisms of GAA repeat instability

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Chiara Masnovo, Ayesha F. Lobo, Sergei M. Mirkin; DNA Repair, Volume 118, 2022, 103385, doi:10.1016/j.dnarep.2022.103385.  Here, we provide ...
Wednesday, August 10, 2022

An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich’s ataxia

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Kevin C. Kemp, Anastasia Georgievskaya, Kelly Hares, Juliana Redondo, Steven Bailey, Claire M. Rice, Neil J. Scolding, Chris Metcalfe & ...