Friday, May 17, 2019

Peripapillary retinal nerve fibre layer thickness in Friedreich’s ataxia: a biomarker for trials?

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Gilbert J Thomas-Black Micheal H Parkinson Fion Bremner Paola Giunti; Brain, awz117, doi:10.1093/brain/awz117 The results from this stu...
Tuesday, May 14, 2019

Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia

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Gilles Naeije, Vincent Wens, Mathieu Bourguignon, Serge Goldman, Massimo Pandolfo, Xavier De Tiège, Clinical Neurophysiology, 2019, ISSN 138...
Saturday, May 11, 2019

Characterization of human frataxin missense variants in cancer tissues

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Maria Petrosino Alessandra Pasquo Leonore Novak Angelo Toto Stefano Gianni Elide Mantuano Liana Veneziano Velia Minicozzi Annalisa Pa...
Friday, May 10, 2019

Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients

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Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch...
Wednesday, May 8, 2019

Orphan designation was granted by the European Commission to Takeda Pharma for TAK-831for the treatment of Friedreich’s ataxia

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On 1 April 2019, orphan designation (EU/3/19/2148) was granted by the European Commission to Takeda Pharma A/S, Denmark, for 4-hydroxy-6-{2-...
Monday, May 6, 2019

Delivering cellular and gene therapies to patients: solutions for realizing the potential of the next generation of medicine

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Kris Elverum & Maria Whitman; Gene Therapy (2019) Doi:10.1038/s41434-019-0074-7 This paper reviews the existing system to deliver cell...
Friday, May 3, 2019

Probing the multifactorial source of hand dysfunction in Friedreich ataxia

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Louise A. Corben, Eppie M. Yiu, Geneieve Tai, Sarah C. Milne, Brigitte Lynch, Martin B. Delatycki, J Clin Neurosci. 2019 Apr 22. pii: S0967-...
Thursday, May 2, 2019

Micronised Resveratrol as a Treatment for Friedreich Ataxia

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ClinicalTrials.gov Identifier: NCT03933163. May 1, 2019 Phase 2. 40 participants, Double-blind, randomised, placebo-controlled 2-period c...
Friday, April 26, 2019

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis

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Tslil Ast, Joshua D. Meisel, Shachin Patra, Gary Ruvkun, David P. Barondeau, Vamsi K. Mootha; Cell , Volume 0 , Issue 0, Published: April 25...
Thursday, April 25, 2019

Brain signals translated into speech using artificial intelligence

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Nature news, 24 APRIL 2019 . Giorgia Guglielmi. "Technology could one day be used to help people who can’t talk to communicate". ...