Monday, December 16, 2019

Functional characterization of frataxin isoforms and mechanisms of regulation of frataxin expression

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Autores: Mauro Agrò. Directores de la Tesis: Javier Díaz Nido (dir. tes.), Alfredo Giménez-Cassina Sendón (codir. tes.). Lectura: En la Univ...
Sunday, December 15, 2019

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich’s ataxia, and other rare iron-related diseases

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Ferreira GC, Oberstaller J, Fonseca R et al. Iron Hack; F1000Research 2019, 8:1135 [version 1; peer review: 2 approved] doi:10.12688/f1000re...
Saturday, December 14, 2019

Neurochemical profiles in hereditary ataxias: A meta-analysis of Magnetic Resonance Spectroscopy studies

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Janna Krahe, Ferdinand Binkofski, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti,; Neuroscience & Biobehavioral Reviews, 2019, doi:10....
Friday, December 13, 2019

An analysis of orphan medicine expenditure in Europe: is it sustainable?

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Jorge Mestre-Ferrandiz, Christina Palaska, Tom Kelly, Adam Hutchings & Adam Parnaby; Orphanet J Rare Dis 14, 287 (2019) doi:10.1186/s130...
Thursday, December 12, 2019

Diagnosis and management of progressive ataxia in adults

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Rajith Nilantha de Silva, Julie Vallortigara, Julie Greenfield, Barry Hunt, Paola Giunti, Marios Hadjivassiliou. Practical Neurology 2019;1...
Tuesday, December 10, 2019

NAD+ and Exercise in FA (ExRx in FA)

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ClinicalTrials.gov Identifier: NCT04192136. December 10, 2019 Children's Hospital of Philadelphia. Randomized, placebo-controlled tria...
Sunday, December 8, 2019

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

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Paule Bénit, Agathe Kahn, Dominique Chretien, Sylvie Bortoli, Laurence Huc, Manuel Schiff, Anne-Paule Gimenez-Roqueplo, Judith Favier, Pierr...
Saturday, December 7, 2019

Effects of tocotrienol supplementation in Friedreich’s ataxia: A model of oxidative stress pathology

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Alessandra Bolotta, Antonella Pini, Provvidenza M Abruzzo, Alessandro Ghezzo, Alessandra Modesti, Tania Gamberi, Carla Ferreri, Francesca Bu...
Friday, December 6, 2019

The Friedreich’s Ataxia Research Alliance Promotes Jennifer Farmer, MS to Chief Executive Officer

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PRESS RELEASE GlobeNewswire, Dec. 5, 2019 DOWNINGTOWN, Pa., Dec. 05, 2019 (GLOBE NEWSWIRE) -- The Board of Directors at The Friedreich’s A...

L’Associació Francesa de l’atàxia de Friedreich concedeix una ajuda de 25.000 € per validar el potencial terapèutic del calcitriol per tractar aquesta malaltia rara

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IRB-Lleida, Dijous, 5 de desembre de 2019 L'Associació Francesa de l'Atàxia de Friedreich ha concedit una ajuda de 25.000 € al Grup...