Tuesday, November 22, 2022

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol

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Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz ...
Monday, November 21, 2022

Determinant of the Cerebellar cognitive affective syndrome in Friedreich Ataxia

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destrebecq, comet, deveylder, alaerts, naeije.; Research Square; 2022. DOI: 10.21203/rs.3.rs-2279266/v1.  CCAS is highly prevalent in adult ...

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

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Rummey C, Harding IH, Delatycki MB, Tai G, Rezende T, Corben LA.; Ann Clin Transl Neurol. 2022 Nov 16. doi: 10.1002/acn3.51686. Epub ahead o...
Sunday, November 20, 2022

Cerebellar impulsivity–compulsivity assessment scale

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Lin, C.-Y.R., Amokrane, N., Chen, S., Chen, T.X., Lai, R.-Y., Trinh, P., Minyetty, M.J., Emmerich, H., Pan, M.-K., Claassen, D.O. and Kuo, S...

Safety and pharmacokinetics of a highly bioavailable resveratrol preparation (JOTROL TM)

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Kemper C, Benham D, Brothers S, Wahlestedt C, Volmar CH, Bennett D, Hayward M.; AAPS Open. 2022;8(1):11. doi: 10.1186/s41120-022-00058-1. Ep...
Friday, November 18, 2022

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

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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

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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

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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

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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

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