Monday, December 3, 2018

The POWER-tool: Recommendations for involving patient representatives in choosing relevant outcome measures during rare disease clinical trial design

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C.M.W. Gaasterland, M.C. Jansen-van der Weide, E. Vroom, K. Leeson-Beevers, M. Kaatee, R. Kaczmarek, B. Bartels, W.L. van der Pol, K.C.B. Ro...
Sunday, December 2, 2018

Impact of biobanks on research outcomes in rare diseases: a systematic review

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Monique Garcia, Jenny Downs, Alyce Russell and Wei Wang; Orphanet Journal of Rare Diseases 2018 13:202 doi:10.1186/s13023-018-0942-z Allev...
Saturday, December 1, 2018

OGTT is recommended for glucose homeostasis assessments in Friedreich ataxia

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Azzi, A. , Cosentino, C. , Kibanda, J. , Féry, F. and Cnop, M. (2018). Ann Clin Transl Neurol. doi:10.1002/acn3.686 Diabetes is a common c...
Friday, November 30, 2018

Mining Facebook Data of People with Rare Diseases: A Content-Based and Temporal Analysis

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Subirats L, Reguera N, Bañón AM, Gómez-Zúñiga B, Minguillón J, Armayones M.; Int J Environ Res Public Health. 2018;15(9):1877. Published 201...
Thursday, November 29, 2018

Real‐time use of audio‐biofeedback can improve postural sway in patients with degenerative ataxia

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Zofia Fleszar, Sabato Mellone, Martin Giese, Carlo Tacconi, Clemens Becker, Ludger Schöls, Matthis Synofzik, Winfried Ilg; Annals of Clinica...
Wednesday, November 28, 2018

Mitochondria, Nrf2 and mTOR

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Gino Cortopassi. Free Radical Biology and Medicine, Volume 128, Supplement 1, 2018, Page S7, doi:10.1016/j.freeradbiomed.2018.10.382. Abst...
Tuesday, November 27, 2018

Heme oxygenase-1 is required for iron homeostasis and mitochondrial respiration

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Jennifer Carr, Ping La, Phyllis Dennery. Free Radical Biology and Medicine, Volume 128, Supplement 1, 2018, Page S81, doi.org/10.1016/j.free...
Monday, November 26, 2018

Corporate Social Responsibility (CSR) of Innovative Pharmaceutical Corporations. The Case of BIOGEN

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Janina Witkowska. Comparative Economic Research, Volume 21: Issue 3 45–62, First Online: 19 Sep 2018 DOI:10.2478/cer-2018-0018 The aim of ...
Sunday, November 25, 2018

Depression disorder in patients with cerebellar damage: Awareness of the mood state

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ilvia Clausi, Michela Lupo, Giusy Olivito, Libera Siciliano, Maria Pia Contento, Fabio Aloise, Luigi Pizzamiglio, Marco Molinari, Maria Legg...
Saturday, November 24, 2018

Paradoxical disruption of Nrf2 signaling despite mitochondrial iron driven oxidative stress in Friedreich’s ataxia cardiomyopathy

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Michael Huang, Amy Anzovino, Shannon Chiang, Bronwyn Brown, Clare Hawkins, Des Richardson. Free Radical Biology and Medicine, Volume 128, Su...