Friday, November 18, 2022

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

›
Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz & Verónica Alonso-Ferreira; Orphanet J Rare Dis 1...
Monday, November 14, 2022

Criterios de derivación a genética clínica desde Atención Primaria. Documento de consenso, Atención Primaria

›
Ismael Ejarque Doménech, Purificación Marín Reina, Sixto García-Miñaur Rica, Isabel Chirivella González, María Teresa Martínez Martínez, Ana...

Glucagon-like Peptide-1 (GLP-1) Receptor Agonists and Neuroinflammation: Implications for Neurodegenerative Disease Treatment

›
Katherine O. Kopp, Elliot J. Glotfelty, Yazhou Li, Nigel H. Greig; Pharmacological Research, 2022, 106550, DOI:10.1016/j.phrs.2022.106550. ...

Decreased mitochondrial respiration in cardiac fibers isolated from a mouse model of Friedreich’s ataxia

›
Peter Vitiello, Paul Pierce, Shirley/Xiu Wang, Alec Cooper, Aristides Rivera, Jared Ailts, Holly Van Remmen, Jacob Brown; Free Radical Biolo...

Characterization of human mitochondrial aconitase and its interaction with frataxin

›
Santiago Mansilla, Verónica Tórtora, Florencia Pignataro, Santiago Sastre, Ignacio Castro, María Laura Chiribao, Carlos Robello, Ari Zeida, ...

RNA as a Major-Groove Ligand: RNA-RNA and RNA-DNA Triplexes Formed by GAA and UUC or TTC Sequences

›
Zhang J, Fakharzadeh A, Roland C, Sagui C.; ACS Omega. 2022 Nov;7(43):38728-38743. DOI: 10.1021/acsomega.2c04358. PMID: 36340174; PMCID: PM...
Sunday, November 13, 2022

Phenotype and management of neurologic intronic repeat disorders (NIRDs)

›
Finsterer J.; Rev Neurol (Paris). 2022 Nov 9:S0035-3787(22)00793-7. doi: 10.1016/j.neurol.2022.09.004. Epub ahead of print. PMID: 36371266. ...

Blood Transcript Biomarkers Selected by Machine Learning Algorithm Classify Neurodegenerative Diseases including Alzheimer’s Disease

›
Huseby, C.J.; Delvaux, E.; Brokaw, D.L.; Coleman, P.D.; Biomolecules 2022, 12, 1592. doi:10.3390/biom12111592  A blood-based screen to disti...

Prediction of the disease course in Friedreich ataxia

›
Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Mario Fichera, Al...

C-Path and EFACTS Announce Data Sharing Agreement Making RDCA-DAP the Largest Worldwide Database for Friedreich’s Ataxia

›
TUCSON, Ariz., Nov. 10, 2022 — Critical Path Institute (C-Path) and the European Friedreich’s Ataxia Consortium for Translational Studies (E...