Sunday, December 31, 2017

A case-control spectral analysis of sleep in Friedreich's Ataxia

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R. Forbes, S.S. Smith, A. Ritchie, J.D. O'Sullivan, S. Mantovani, Sleep Medicine, Volume 40, Supplement 1, December 2017, Page e209, ISS...

Emerging therapeutics for the treatment of Friedreich’s ataxia

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Elisabetta Indelicato & Sylvia Bösch; Expert Opinion on Orphan Drugs Vol. 6 , Iss. 1,2018 doi:10.1080/21678707.2018.1409109 Despite th...

Why should neuroscientists worry about iron? The emerging role of ferroptosis in the pathophysiology of neuroprogressive diseases

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Gerwyn Morris, Michael Berk, André F. Carvalho, Michael Maes, Adam J. Walker, Basant K. Puri, Behavioural Brain Research, Available online 2...
Saturday, December 30, 2017

Association between iron related gene polymorphisms and Friedreich’s ataxia (FRDA) disease and peripheral neuropathy in Indian cohort

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I. Singh, S. Shakya, R.K. Singh, A. Istaq, V. Goyal, S. Garima, A.K. Srivastava; Journal of the Neurological Sciences Volume 381, Supplement...

Transcriptional regulators of redox balance and other homeostatic processes with the potential to alter neurodegenerative disease trajectory.

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Scott W. Burnside, Giles E. Hardingham; Biochemical Society Transactions Nov 17, 2017, 45 (6) 1295-1303; DOI: 10.1042/BST20170013 Diverse ...

NAD+ Intermediates: The Biology and Therapeutic Potential of NMN and NR

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Jun Yoshino, Joseph A. Baur, Shin-ichiro Imai,  Cell Metabolism, Available online 14 December 2017, ISSN 1550-4131, doi:10.1016/j.cmet.2017....
Friday, December 29, 2017

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

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Tanguy Melac A, Mariotti C, Filipovic Pierucci A on behalf of the EFACTS group, et al; J Neurol Neurosurg Psychiatry Published Online First:...
Thursday, December 28, 2017

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

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Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam, Anneliene H Jonker, Lilian PL Lau, Gareth Baynam, Petra Kaufmann, Hugh JS Dawkins, P...
Wednesday, December 27, 2017

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

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Andrea Young, Devidas Menon, Jackie Street, Walla Al-Hertani and Tania Stafinski; Orphanet Journal of Rare Diseases 201712:188 doi:10.1186/s...
Tuesday, December 26, 2017

Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia

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Hong Lin, Jordi Magrane, Elisia M. Clark, Sarah M. Halawani, Nathan Warren, Amy Rattelle, David R. Lynch; Disease Models & Mechanisms 20...