Results 11 to 20 of about 7,267 (177)
Communications Biology, 2023 Deficiency in human mature frataxin (hFXN-M) protein is responsible for the devastating neurodegenerative and cardiodegenerative disease of Friedreich’s ataxia (FRDA).
Teerapat Rojsajjakul +6 more
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Annals of Clinical and Translational Neurology, 2021 Background Friedreich’s ataxia is an inherited, progressive, neurodegenerative disease that typically begins in childhood. Disease severity is commonly assessed with rating scales, such as the modified Friedreich’s Ataxia Rating Scale, which are usually ...
Arne Mueller +11 more
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Nature Communications, 2022 Work in a mouse model of Friedreich’s ataxia has shown that administration of the cytokine granulocyte-colony stimulating factor (G-CSF) could have beneficial neuroprotective effects.
Kevin C. Kemp +8 more
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Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy
Annals of Noninvasive Electrocardiology, 2021 Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of ...
Sandra Mastroianno +7 more
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FDA Approves Omaveloxolone based on Successful Moxie Trial Results for Friedreich's Ataxia - Review
Journal of Education, Health and Sport, 2023 Introduction: In recent years, the medical community has witnessed a significant breakthrough in the treatment of Friedreich's Ataxia (FRDA), a rare and debilitating genetic disorder affecting the nervous system.
Krzysztof Kania +5 more
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Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. [PDF]
PLoS ONE, 2016 Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the ...
Gessica Vasco +8 more
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Frontiers in Neuroscience, 2020 The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich’s ataxia.
Marinela Vavla +17 more
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Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy [PDF]
, 2013 Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly ...
Al-Mahdawi, S, Pook, MA, Sandi, C
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The current state of biomarker research for Friedreich's ataxia: a report from the 2018 FARA biomarker meeting [PDF]
, 2019 The 2018 FARA Biomarker Meeting highlighted the current state of development of biomarkers for Friedreich's ataxia. A mass spectroscopy assay to sensitively measure mature frataxin (reduction of which is the root cause of disease) is being developed ...
Blair, Ian A. +8 more
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Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. [PDF]
, 2011 Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 ...
ACQUAVIVA, Fabio +13 more
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