Thursday, December 16, 2021

Characterizing cardiac phenotype in Friedreich's ataxia: The CARFA study

›
Lise Legrand, Jonathan W. Weinsaft, Francoise Pousset, Claire Ewenczyk, Perrine Charles, Stéphane Hatem, Anna Heinzmann, Marie Biet, Alexand...
Wednesday, December 15, 2021

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

›
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

›
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

›
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

›
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

›
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

›
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

›
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

›
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

›
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...