Sunday, January 7, 2018

Compounded medication for patients with rare diseases

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Marc Dooms and Maria Carvalho; Orphanet Journal of Rare Diseases 201813:1 doi:10.1186/s13023-017-0741-y When there is no authorized on- or...

Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: a systematic review

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Sarah C. Milne, Anna Murphy, Nellie Georgiou-Kristian’s, Eppie M. Yiu, Martin B. Delatycki, Louise A. Corben; Gait & Posture, Available ...

Pediatric Ataxia: Focus on Chronic Disordersca

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David R Lynch, Ashley McCormick, Kimberly Schadt, Elizabeth Kichula, Seminars in Pediatric Neurology, Available online 5 January 2018, ISSN ...
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:...