Tuesday, January 28, 2020

Europe’s drug regulator wins court backing for data transparency policy

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Clare Dyer, BMJ 2020;368:m302 The European Union’s highest court has decisively upheld the European Medicines Agency’s right to publish cl...
Monday, January 27, 2020

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

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Jean-Michel Heard, Charlotte Vrinten, Michael Schlander, Cinzia Maria Bellettato, Corine van Lingen, Maurizio Scarpa & the MetabERN coll...
Sunday, January 26, 2020

Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia

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Afsharian P, Nolan-Kenney R, Lynch AE, Balcer LJ, Lynch DR.; J Neuroophthalmol. 2020 Jan 17. doi: 10.1097/WNO.0000000000000878. Scores for...
Saturday, January 25, 2020

Modeling cardiac dysfunction of Friedreich's ataxia using ventricular sheets, tissues and chambers engineered from human pluripotent stem cells

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Andy O.-T. Wong, Deborah K. Lieu, Gabriel K. Wong, Bimal Gurung, Wan Wai Tse, Kevin D. Costa, Camie W. Chan, Joseph D. Nabhan, Ronald A. Li;...
Friday, January 24, 2020

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

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Riccardo Turchi, Flavia Tortolici, Giulio Guidobaldi, Federico Iacovelli, Mattia Falconi, Stefano Rufini, Raffaella Faraonio, Viviana Casagr...
Thursday, January 23, 2020

Frataxin Structure and Function

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Ignacio Hugo Castro, María Florencia Pignataro, Karl Ellioth Sewell, Lucía Daniela Espeche, María Georgina Herrera, Martín Ezequiel Noguera,...
Wednesday, January 22, 2020

Expresión de IRS2 en ratones afectados con ataxia de Friedreich

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Gil Carceller, B. (2019). Grau en Biotecnologia, Universitat Politècnica de València. Escola Tècnica Superior d'Enginyeria Agronòmica i ...
Tuesday, January 21, 2020

Can this San Diego startup mimic exercise and fasting with a pill? Epirium raises $85M to find out

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San Diego Union Tribune, BRITTANY MEILING, JAN. 13, 2020 A biotech startup in La Jolla has raised $85 million from notable science invest...
Monday, January 20, 2020

Education and information needs for physicians about rare diseases in Spain

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Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero & Josefa Gil-de-...
Sunday, January 19, 2020

Very-late-onset Friedreich’s ataxia: diagnosis in a kindred with late-onset cerebellar ataxia

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Conor Fearon, Roisin Lonergan, Damien Ferguson, Susan Byrne, David Bradley, Yvonne Langan, Janice Redmond; Neurology 2020;20:55-58. doi:10....