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...

Friedreich’s Ataxia: Case series and the Additive Value of Cardiovascular Magnetic Resonance

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Mavrogeni Sophie, Giannakopoulou Aikaterini, Katsalouli Marinab, Pons Roser Maria, Papavasiliou Antigoni, Kolovou Genovefa, Noutsias Michel,...
Tuesday, December 3, 2019

A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies

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White, W.; Gene Ther (2019) doi:10.1038/s41434-019-0110-7 Gene-based therapies are changing the landscape of medicine for patients with ra...
Monday, December 2, 2019

Pediatric Neuromuscular Disorders

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Christopher Michel, Christopher Collins, Pediatric Clinics of North America, 67(1), 45–57. doi:10.1016/j.pcl.2019.09.002 Neuromuscular dis...