Wednesday, December 15, 2021

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

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Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio...
Tuesday, December 14, 2021

Friedreich cardiomyopathy is a secondary desminopathy

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Koeppen, A., Rafique, R., Mazurkiewicz, J., Pelech, S., Sutter, C., Lin, Q., & Qian, J. (2021). Free Neuropathology, 2, 34. doi:10.17879...
Saturday, December 11, 2021

Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation

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Rodden LN, Gilliam KM, Lam C, Lynch DR and Bidichandani SI (2021); Front. Neurosci. 15:752921. doi: 10.3389/fnins.2021.752921  Treatment of ...

Indefinite suspension of further development of the Company’s XCUR-FXN program for the treatment of Friedreich’s ataxia

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CHICAGO & CAMBRIDGE, Mass., December 10, 2021--(BUSINESS WIRE)--Exicure, Inc.® (NASDAQ: XCUR) announced the results of its previously di...
Thursday, December 9, 2021

Rad9-mediated checkpoint activation is responsible for elevated expansions of GAA repeats in CST-deficient yeast

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Spivakovsky-Gonzalez E, Polleys EJ, Masnovo C, Cebrian J, Molina-Vargas AM, Freudenreich CH, Mirkin SM.; Genetics. 2021 Oct 2;219(2):iyab125...

Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia

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Bogdanova-Mihaylova, P.; Plapp, H.M.; Chen, H.; Early, A.; Cassidy, L.; Walsh, R.A.; Murphy, S.M.; Tomography 2021, 7, 915-931. doi:10.3390/...
Friday, December 3, 2021

The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia

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Sarah C. Milne, Seok Hun Kim, Anna Murphy, Jane Larkindale, Jennifer Farmer, Ritchie Malapira, Mary Danoudis, Jessica Shaw, Tyagi Ramakrishn...
Wednesday, December 1, 2021

Nuclear Factor Erythroid-Related Factor 2 Signaling in the Neuropathophysiology of Inherited Metabolic Disorders

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Bianca Seminotti1, Mateus Grings, Paolo Tucci, Guilhian Leipnitz1, Luciano Saso; Front. Cell. Neurosci., 26 November 2021 doi:10.3389/fncel....
Monday, November 29, 2021

Source of medical information and behavioral seeking patterns in patients affected with Friedreich's ataxia and their caregivers: a survey study

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Miele G, Lavorgna L, De Mercanti SF, Iudicello M, Abbadessa G, Matta M, Bonavita S, Clerico M.; Neurol Sci. 2021 Nov 28. doi: 10.1007/s10072...
Tuesday, November 23, 2021

Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

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Emanuele Monda, Michele Lioncino, Marta Rubino, Silvia Passantino, Federica Verrillo, Martina Caiazza, Annapaola Cirillo, Adelaide Fusco, Fr...