Wednesday, April 7, 2021

Biochemical alterations precede neurobehavioral deficits in a novel mouse model of Friedreich ataxia

›
Marta Medina-Carbonero, Arabela Sanz-Alcazar, Elena Britti, Fabien Delaspre, Elisa Cabiscol, Joaquim Ros, Jordi Tamarit; bioRxiv 2021.04.05....
Thursday, April 1, 2021

Synthesis of 5‐[(1H‐indol‐3‐yl)methyl]‐1,3,4‐oxadiazole‐2(3H)‐thiones and their protective activity against oxidative stress

›
škauskienė, M., Kadlecová, A., Voller, J., Janovská, L., Malinauskienė, V., Žukauskaitė, A., Šačkus, A., Arch. Pharm. 2021, e2100001. doi:10...
Wednesday, March 31, 2021

Lessons for clinical trial design in Friedreich's ataxia

›
Masha G Savelieff Eva L Feldman The Lancet Neurology; Published:March 23, 2021DOI:https://doi.org/10.1016/S1474-4422(21)00064-8 Friedreic...
Tuesday, March 30, 2021

Rare-disease researchers face unique obstacles: Minoryx

›
29-Mar-2021 By Jenni Spinner A representative of the rare-disease specialist firm outlines the unique obstacles of orphan CNS disease resea...

Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en EspañaEpidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

›
G. Ortega Suero, M.J. Abenza Abildúa, C. Serrano Munuera, I. Rouco Axpe, F.J. Arpa Gutiérrez, A.D. Adarmes Gómez, F.J. Rodríguez de Rivera, ...
Monday, March 29, 2021

Pre-clinical left ventricular myocardial remodeling in patients with Friedreich's ataxia: A cardiac MRI study

›
Takazaki KAG, Quinaglia T, Venancio TD, Martinez ARM, Shah RV, Neilan TG, Jerosch-Herold M, Coelho-Filho OR, França MC Jr.; PLoS One. 2021 M...
Saturday, March 27, 2021

Quantitative assessment of Friedreich Ataxia via self-drinking activity

›
Ragil Krishna, Pubudu N Pathirana, Malcolm Horne, Louise Corben, David Szmulewicz; IEEE J Biomed Health Inform. 2021 Mar 25;PP. doi: 10.1109...
Friday, March 26, 2021

NAD+ Precursor Supplementation in Friedreich's Ataxia

›
ClinicalTrials.gov Identifier: NCT04817111. A Phase 2a Study of NAD+ Precursor Supplementation in Friedreich's Ataxia  Sponsor: Metro In...
Thursday, March 25, 2021

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

›
Yoko Takahashi, Masaya Kubota, Rika Kosaki, Kenjiro Kosaki, Akira Ishiguro; Brain and Development, Volume 43, Issue 3, 2021, Pages 464-469, ...

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

›
Prof Kathrin Reetz, MD, Imis Dogan, PhD, Prof Ralf-Dieter Hilgers, PhD, Prof Paola Giunti, MD, Michael H Parkinson, MBBS, Caterina Mariotti,...