Friday, December 28, 2018

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models

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Yi Na Dong Emily McMillian Elisia M Clark Hong Lin David R Lynch, Human Molecular Genetics, ddy448, doi:10.1093/hmg/ddy448 Published: 26 Dec...
Monday, December 17, 2018

Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures

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Jiun-I Lai, Daniel Nachun, Lina Petrosyan, Benjamin Throesch, Erica Campau, Fuying Gao, Kristin K Baldwin, Giovanni Coppola, Joel M. Gottesf...
Saturday, December 15, 2018

Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms

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Brahim Belbellaa, Laurence Reutenauer, Laurent Monassier, Hélène Puccio; Human Molecular Genetics, , ddy427, doi:10.1093/hmg/ddy427 Correl...
Thursday, December 13, 2018

Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom

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Gabrielle Norrish Ella Field Karen Mcleod Maria Ilina Graham Stuart Vinay Bhole Orhan Uzun Elspeth Brown Piers E F Daubeney Amrit Lota Katie...
Wednesday, December 12, 2018

Be open about drug failures to speed up research

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Enrica Alteri and Lorenzo Guizzaro. Nature 563, 317-319 (2018) doi: 10.1038/d41586-018-07352-7 COMMENT 13 NOVEMBER 2018 Access to evide...
Monday, December 10, 2018

From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research

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Petra Kaufmann, Anne R. Pariser and Christopher Austin. Orphanet Journal of Rare Diseases 2018 13:196 doi:10.1186/s13023-018-0936-x We now...
Saturday, December 8, 2018

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

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Al-Mahdawi Sahar, Ging Heather, Bayot Aurelien, Cavalcanti Francesca, La Cognata Valentina, Cavallaro Sebastiano, Giunti Paola, Pook Mark A....
Friday, December 7, 2018

Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich’s ataxia

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Hammans SR, Kennedy CR. Journal of Neurology, Neurosurgery & Psychiatry 1998;64:368-370. doi:10.1136/jnnp.64.3.368 Ataxia with vitamin...
Thursday, December 6, 2018

Trends in robot-assisted and virtual reality-assisted neuromuscular therapy: a systematic review of health-related multiplayer games

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Kilian Baur, Alexandra Schättin, Eling D. de Bruin, Robert Riener, Jaime E. Duarte and Peter Wolf. Journal of NeuroEngineering and Rehabilit...
Wednesday, December 5, 2018

Federating patients identities: the case of rare diseases

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Meriem Maaroufi, Paul Landais, Claude Messiaen, Marie-Christine Jaulent and Rémy Choquet; Orphanet Journal of Rare Diseases 2018 13:199 doi:...