Friedreich Ataxia Scientific News

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

Wednesday, November 14, 2018

Longitudinal dentate nuclei iron concentration and atrophy in Friedreich ataxia: IMAGE-FRDA

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Phillip Ward, Ian H Harding, Thomas G Close, Louise A Corben, Martin B Delatycki, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F. Egan. ...

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia

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Lynch, D. R., Farmer, J. , Hauser, L. , Blair, I. A., Wang, Q. Q., Mesaros, C. , Snyder, N. , Boesch, S. , Chin, M. , Delatycki, M. B., Giun...
Wednesday, October 31, 2018

Transcriptional profiling of isogenic Friedreich ataxia induced pluripotent stem cell-derived neurons

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Jiun-I Lai, Daniel Nachun, Lina Petrosyan, Benjamin Throesch, Erica Campau, Fuying Gao, Kristin K Baldwin, Giovanni Coppola, Joel M Gottesfe...

Emerging Regulatory Role of Nrf2 in Iron, Heme, and Hemoglobin Metabolism in Physiology and Disease.

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Kasai Shuya, Mimura Junsei, Ozaki Taku, Itoh Ken. Frontiers in Veterinary Science 5,242 2018 DOI=10.3389/fvets.2018.00242 In this review a...
Tuesday, October 30, 2018

Patients in research: still many roadblocks

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Roos Eric C. BMJ 2018; 363 :k4387 doi:10.1136/bmj.k4387 Patient involvement is receiving increasing support as it can improve speed and qu...

Full partnership with patients is essential to any modern research enterprise

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Wicks Paul, Richards Tessa, Denegri Simon, Godlee Fiona. Patients’ roles and rights in research BMJ 2018; 362 :k3193  doi:10.1136/bmj.k3193 ...

Patients’ roles and rights in research- Patients in research: one step in a long path

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Wicks P, Richards T, Denegri S, Godlee F. BMJ 2018;362:k3193. 10.1136/bmj.k3193 30045909 We need to engage patients with mobility, or othe...

Unraveling the Role of Heme in Neurodegeneration

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Chiabrando Deborah, Fiorito Veronica, Petrillo Sara, Tolosano Emanuela. Frontiers in Neuroscience 12 (2018) 712 DOI=10.3389/fnins.2018.00712...
Monday, October 29, 2018

The impact of histone post-translational modifications in neurodegenerative diseases

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Samantha N. Cobos, Seth A. Bennett, Mariana P. Torrente, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2018, ISSN 0925-4...

Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia

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Schirinzi, T., Romano, A., Favetta, M., Sancesario, A., Burattini, R., Summa, S., Della Bella, G., Castelli, E., Bertini, E., Petrarca, M., ...
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