Friday, May 1, 2020

A Phase 1 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Effects on Biomarkers of MIN-102 (Leriglitazone)

›
Uwe Meya, Guillem Pina, Silvia Pascual, Marc Cerrada-Gimenez, Pilar Pizcueta, Marc Martinell, David Eckland, Jeroen v.d. Wetering de Rooij ...
Thursday, April 30, 2020

MIN102 (Leriglitazone), a Brain Penetrant PPAR Gamma Agonist for the Treatment of Friedreich’s Ataxia (4147)

›
Sonia Poli, Laura Rodríguez-Pascau, Elena Britti, Joaquim Ros, Pilar González-Cab, David Lynch, Marc Martinell, Pilar Pizcueta; Neurology Ap...
Monday, April 27, 2020

Neurologic outcomes in Friedreich ataxia

›
Massimo Pandolfo, Neurol Genet Jun 2020, 6 (3) e415; DOI: 10.1212/NXG.0000000000000415 The SARA is a sensitive outcome measure in ambulato...
Thursday, April 23, 2020

Making iron-sulfur cluster: structure, regulation and evolution of the bacterial ISC system

›
Corentin Baussier, Soufyan Fakroun, Corinne Aubert, Sarah Dubrac, Pierre Mandin, Béatrice Py, Frédéric Barras, Advances in Microbial Physiol...
Monday, April 20, 2020

Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia (INTREP-AF)

›
ClinicalTrials.gov Identifier: NCT04346238 Posted : April 15, 2020 To date, only the partial correlation between the size of the expansion...
Sunday, April 19, 2020

A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich’s Ataxia Patients

›
Julia O. Misiorek, Anna M. Schreiber, Martyna O. Urbanek-Trzeciak, Magdalena Jazurek-Ciesiołka, Lauren A. Hauser, David R. Lynch, Jill S. Na...
Friday, April 17, 2020

A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals With Friedreich Ataxia (TRACK-FA) ((TRACK-FA))

›
ClinicalTrials.gov Identifier: NCT04349514. Estimated Study Start Date :June 2020 The aim of TRACK-FA is to develop an FA neuroimaging dat...
Thursday, April 16, 2020

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

›
Espinós, C.; Galindo, M.I.; García-Gimeno, M.A.; Ibáñez-Cabellos, J.S.; Martínez-Rubio, D.; Millán, J.M.; Rodrigo, R.; Sanz, P.; Seco-Cerver...
Tuesday, April 14, 2020

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

›
Wai Yan Yau, Mafalda Raposo, Conceição Bettencourt, Robyn Labrum, João Vasconcelos, Michael H Parkinson, Paola Giunti, Nicholas W Wood, Manu...
Monday, April 13, 2020

Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase

›
Rosa Purroy, Marta Medina-Carbonero, Joaquim Ros, Jordi Tamarit; Redox Biology, Volume 32, 2020, 101520, doi:10.1016/j.redox.2020.101520. ...