Results 11 to 20 of about 7,170 (177)

Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy

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, Juliette J. Hordeaux, Gourav R. Choudhury, Christian J. Hinderer, Clementina Mesaros, James M. Wilson, Ian A. Blair   +6 more
doaj   +1 more source

Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia

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, Elaine Paterson, Avery McIntosh, Jens Praestgaard, Mary Bylo, Holger Hoefling, McKenzie Wells, David R. Lynch, Christian Rummey, Michelle L. Krishnan, Meredith Schultz, C. J. Malanga   +11 more
doaj   +1 more source

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

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, Anastasia Georgievskaya, Kelly Hares, Juliana Redondo, Steven Bailey, Claire M. Rice, Neil J. Scolding, Chris Metcalfe, Alastair Wilkins   +8 more
doaj   +1 more source

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, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Giuseppe Di Stolfo   +7 more
doaj   +1 more source

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, Simone Gazzellini, Maurizio Petrarca, Maria Luisa Lispi, Alessandra Pisano, Marco Zazza, Gessica Della Bella, Enrico Castelli, Enrico Bertini   +8 more
doaj   +1 more source

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, Joanna Kania, Karolina Niekurzak, Maciej Jędrak, Maciej Józefiak, Piotr Sobkiewicz   +5 more
doaj   +1 more source

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., Farmer, Jennifer, Hersch, Steven, Larkindale, Jane, Lynch, David R., Napierala, Jill, Napierala, Marek, Payne, R. Mark, Subramony, Sub H.   +8 more
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Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia

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, Marinela Vavla, Filippo Arrigoni, Nicola Toschi, Nicola Toschi, Denis Peruzzo, Maria Grazia D’Angelo, Sandra Gandossini, Annamaria Russo, Eleonora Diella, Stefania Tirelli, Roberto Salati, Alessandra Rufini, Alessandra Rufini, Ivano Condo, Roberto Testi, Roberto Testi, Andrea Martinuzzi   +17 more
doaj   +1 more source

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study [PDF]

, 2015
Background: Friedreich’s ataxia (FRDA) is the most common hereditary autosomal recessive form of ataxia. In this disease there is early manifestation of gait ataxia, and dysmetria of the arms and legs which causes impairment in daily activities that ...
Bertini, Enrico, Cappa, Paolo, Carniel, Sacha, Castelli, Enrico, Germanotta, Marco, Petrarca, Maurizio, Rossi, Stefano, Vasco, Gessica   +7 more
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Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Al-Mahdawi, Al-Mahdawi, Al-Mahdawi, Albano, Bidichandani, Brandon Brown, Brian D. Scott, Bridwell-Rabb, Campuzano, Catterall, Chantrel-Groussard, Chorley, Chutake, Condò, Cossée, Cox, De Biase, Deutsch, Drechsel, Dürr, Fahey, Filla, Florestano, Frank, Friedman, Gino A. Cortopassi, Greene, Hashemy, Heike Wulff, Huang, Kalinin, Kensler, Kim, Kim, Koeppen, Koeppen, Kosower, Kosower, Kruger, Lai, Larkin, Liu, Lopert, Lu, Lu, Marissa Z. McMackin, Mark A. Pook, Miranda, Mittal Jasoliya, Montermini, Osburn, Paredes-Gonzalez, Paupe, Riah, Sandi, Sangster, Saveliev, Schmitz-Hübsch, Selak, Shan, Shan, Shan, Shelmire, Sinha, Streck, Subramaniam, Sunil Sahdeo, Susan L. Perlman, Tan, Tan, Tella, Verdon, Wang, Wang, Weaver, Willis, Yang, Yu, Zhang   +78 more
core   +1 more source