Saturday, July 2, 2022

Safety and pharmacokinetics of a highly bioavailable resveratrol preparation (JOTROL TM)

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Kemper, Christopher; Benham, Dariush; Brothers, Shaun; Wahlestedt, Claes; Volmar, Claude-Henry; Bennett, Daniel; et al. (2022). figshare. Co...
Wednesday, June 29, 2022

Friedreich ataxia: clinical features and new developments

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Medina Keita, Kellie McIntyre, Layne N Rodden, Kim Schadt, and David R Lynch; Neurodegenerative Disease Management 0 0:0. Published Online:2...
Wednesday, June 22, 2022

What role can decentralized trial designs play to improve rare disease studies?

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Moore, J., Goodson, N., Wicks, P. et al.; Orphanet J Rare Dis 17, 240 (2022). doi:10.1186/s13023-022-02388-5 DCT approaches have been shown ...
Monday, June 20, 2022

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review

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Lew, S.Y.; Phang, M.W.L.; Chong, P.S.; Roy, J.; Poon, C.H.; Yu, W.S.; Lim, L.W.; Wong, K.H.; Pharmaceuticals 2022, 15, 764. doi:10.3390/ph15...
Sunday, June 19, 2022

Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich’s Ataxia

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Sivakumar A and Cherqui S (2022); Front. Genome Ed. 4:903139. doi: 10.3389/fgeed.2022.903139 Recent research on in vivo and ex vivo gene the...
Saturday, June 18, 2022

Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta

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F.J. Arpa Gutiérrez, M.J. Abenza Abildúa, I. Rouco Axpeb, A.D. Adarmes Gómez, C. Serrano Munuera; Neurología, doi:10.1016/j.nrl.2022.02.004 ...
Friday, June 17, 2022

Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich’s ataxia

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Yanjie Li, Jixue Li, Jun Wang, Siyuan Zhang, Keith Giles, Thazha P Prakash, Frank Rigo, Jill S Napierala, Marek Napieral; Human Molecular G...
Tuesday, June 14, 2022

Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia

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Thomas M. O'Connell, David L. Logsdon, R. Mark Payne; Molecular Genetics and Metabolism, 2022, ISSN 1096-7192, doi:10.1016/j.ymgme.2022....

W131 Detection of compound heterozygotes for GAA expansion & a frataxin gene (FXN) point mutation in patients with friedreich’s ataxia

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A. Pagdhune, A. Dalal, M. M; Clinica Chimica Acta, Volume 530, Supplement 1, 2022, Page S341, ISSN 0009-8981, doi:10.1016/j.cca.2022.04.886....

Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach

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Muñoz-Lasso DC, Mollá B, Sáenz-Gamboa JJ, Insuasty E, de la Iglesia-Vaya M, Pook MA, Pallardó FV, Palau F and Gonzalez-Cabo P (2022). Front....