Tuesday, February 11, 2020

Loss of mitochondrial localization of human FANCG causes defective FANCJ helicase

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Sudit S Mukhopadhyay, Jagadeesh Chandra Bose K, Bishwajit Singh Kapoor, Kamal Mandal, Subhrima Ghosh, Raveendra B Mokhamatam, Sunil K Manna;...
Monday, February 10, 2020

NAD+ therapy in age-related degenerative disorders: A benefit/risk analysis

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Nady Braidy, Yue Liu; Experimental Gerontology, 2020, 110831, doi:10.1016/j.exger.2020.110831. While these compounds presented with a limi...
Sunday, February 9, 2020

The Potential of the Novel NAD+ Supplementing Agent, SNH6, as a Therapeutic Strategy for the Treatment of Friedreich’s Ataxia

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Shannon Chiang, Danuta S. Kalinowski, Mahendiran Dharmasivam, Nady Braidy, Des R. Richardson, Michael L.-H. Huang, Pharmacological Research,...
Friday, February 7, 2020

A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

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ClinicalTrials.gov Identifier: NCT04255680, February 5, 2020 Intervention: Diagnostic Test: Buccal Swabs and Blood Draws Sponsors: Cho...
Monday, February 3, 2020

DDIEM: Drug Database for Inborn Errors of Metabolism

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Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield, Robert Hoehndorf, bioRxiv 2020.01.08....

NfL and pNfH are increased in Friedreich’s ataxia

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Stefanie Nicole Hayer, Inga Liepelt, Christian Barro, Carlo Wilke, Jens Kuhle, Peter Martus, Ludger Schöls, the EFACTS study group; J Neurol...
Sunday, February 2, 2020

Ocular Involvement in Friedreich Ataxia Patients and its Relationship with Neurological Disability, a Follow-up Study

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Rojas, P.; Ramírez, A.I.; Hoz, R.; Cadena, M.; Ferreras, A.; Monsalve, B.; Salobrar-García, E.; Muñoz-Blanco, J.L.; Urcelay-Segura, J.L.; Sa...
Saturday, February 1, 2020

Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich's ataxia

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Giuseppe Arcuria, Christian Marcotulli, Raffaele Amuso, Giuliano Dattilo, Claudio Galasso, Francesco Pierelli, Carlo Casali; Neurol Sci (202...
Friday, January 31, 2020

The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich’s Ataxia

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Rosa, P.L.; Bertini, E.S.; Piemonte, F.; Int. J. Mol. Sci. 2020, 21, 916. doi:10.3390/ijms21030916 Frataxin depletion impairs iron–sulfur ...
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...