Sunday, January 13, 2019

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia

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Phillip G. D. Ward PhD, Ian H. Harding PhD, Thomas G. Close PhD, Louise A. Corben PhD, Martin B. Delatycki MBBS, FRACP, PhD, Elsdon Storey D...
Saturday, January 12, 2019

Etravirine in Friedreich's ataxia: Lessons from HIV?

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Lynch DR, Schadt K1, Kichula E. Mov Disord. 2019 Jan 10. doi: 10.1002/mds.27605. [Epub ahead of print]
Friday, January 11, 2019

Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia

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Giulia Alfedi MSc, Riccardo Luffarelli MSc, Ivano Condò PhD, Giorgia Pedini MSc, Liliana Mannucci PhD, Damiano S. Massaro PhD, Monica Benini...
Wednesday, January 2, 2019

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

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Peverill RE, Donelan L, Corben LA, Delatycki MB (2018). PLoS ONE 13(12): e0209410. doi:10.1371/journal.pone.0209410 There are generalized ...
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...