Thursday, September 21, 2017

Friedreich Ataxia: Treatment with Genetic Approach

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Martin L. Nelwan, Journal of Advances in Biology & Biotechnology, 2394-1081,Vol.: 14, Issue.: 4 Adequate treatments are unavailable fo...
Wednesday, September 20, 2017

Molecular Alterations in a Mouse Cardiac Model of Friedreich’s Ataxia: An Impaired Nrf2 Response Mediated via Up-Regulation of Keap1 and Activation of the Gsk3β Axis

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Amy Anzovino, Shannon Chiang, Bronwyn E. Brown, Clare L. Hawkins, Des R. Richardson, Michael L.-H. Huang, The American Journal of Pathology,...
Tuesday, September 19, 2017

Movement disorders hidden in the neuromuscular clinic

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J. Reimann, S. Paus, Neuromuscular Disorders, Volume 27, Supplement 2, October 2017, Page S243, ISSN 0960-8966, doi:10.1016/j.nmd.2017.06.53...
Monday, September 18, 2017

Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia

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ClinicalTrials.gov Identifier: NCT03285204, First received: March 8, 2017 Principal Investigator: Jose L Urcelay, PhD HGU Gregorio Marañón...
Saturday, September 16, 2017

Alternative mitochondrial electron transfer for the treatment of neurodegenerative diseases and cancers: Methylene blue connects the dots

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Shao-Hua Yang, Wenjun Li, Nathalie Sumien, Michael Forster, James W. Simpkins, Ran Liu, In Progress in Neurobiology, Volume 157, 2017, Pages...
Sunday, September 10, 2017

Market access of Spinraza (Nusinersen) for spinal muscular atrophy: intellectual property rights, pricing, value and coverage considerations

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S Simoens and I Huys; Gene Therapy , (7 September 2017) | doi:10.1038/gt.2017.79 In December 2016, Spinraza (Nusinersen), Biogen (Durham, ...

Detection of long repeat expansions from PCR-free whole-genome sequence data

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Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay,...
Saturday, September 9, 2017

Nitric oxide prevents Aft1 activation and metabolic remodeling in Frataxin-deficient yeast

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David Alsina, Joaquim Ros, Jordi Tamarit, Redox Biology, Available online 6 September 2017, ISSN 2213-2317, doi:10.1016/j.redox.2017.09.001....
Thursday, September 7, 2017

RNA biology of disease-associated microsatellite repeat expansions

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Kushal J. Rohilla and Keith T. Gagnon, Acta Neuropathologica 20175:63, doi:10.1186/s40478-017-0468-y This review focuses on the potential ...
Wednesday, September 6, 2017

A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich’s Ataxia

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Ryan J. McGinty, Franco Puleo, Anna Y. Aksenova, Julia A. Hisey, Alexander A. Shishkin, Erika L. Pearson, Eric T. Wang, David E. Housman, Cl...