Thursday, September 27, 2018

Young couples from Paphos advised to get checked for rare disease before having kids

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CyprusMail online, September 26th, 2018 Evie Andreou: Young couples, especially from Paphos, ought to get tested before deciding to have chi...
Thursday, September 20, 2018

Chemical synthesis of lipophilic methylene blue analogues which increase mitochondrial biogenesis and frataxin levels.

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Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P. Visavadiya, Sidney M. Hecht, Omar M. Khdour, Data in Brief, Volume 20, 2018, Pag...
Wednesday, September 19, 2018

Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

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Alsina, D.; Purroy, R.; Ros, J.; Tamarit, J.; Pharmaceuticals 2018, 11, 89. doi:10.3390/ph11030089 Friedreich ataxia is a neurodegenerativ...
Monday, September 17, 2018

Single rod instrumentation in patients with scoliosis and co-morbidities: Indications and outcomes

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Athanasios I Tsirikos, Peter R Loughenbury; World J Orthop. Sep 18, 2018; 9(9): 138-148 doi: 10.5312/wjo.v9.i9.138 Patients with complex d...

Abnormalities of Mitochondrial Dynamics in the Failing Heart: Normalization Following Long-Term Therapy with Elamipretide

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Sabbah, H.N., Gupta, R.C., Singh-Gupta, V. et al. Cardiovasc Drugs Ther (2018) 32: 319. doi:10.1007/s10557-018-6805-y Treatment with ELAM ...
Friday, August 31, 2018

Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia

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Karen A.G. Takazaki, Thiago Junqueira R. Rezende, Alberto R.M. Martinez, Carelis González, Anamarli Nucci, Iscia Lopes-Cendes, Marcondes C. ...

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

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Vamshi K. Rao, Christine J. DiDonato and Paul D. Larsen; Case Reports in Neurological Medicine Volume 2018, Article ID 8587203, 5 pages doi:...

Magnetic susceptibility of the dentate in a longitudinal study of Friedreich ataxia

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Phillip G D Ward, Ian H Harding, Parnesh Raniga, Tom G Close, Louise A Corben, Martin B Delatycki, Monique R Stagnitti, Elsdon Storey, Nelli...

Regional cortical folding morphometry in Friedreich ataxia using Laplace Beltrami based gyrification index

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Rosita Shishegar, Imis Dogan, Martin B. Delatycki, Gary F. Egan, Elsdon Storey, Louise A. Corben, and Nellie Georgiou-Karistianis; Internati...

BRAIN FUNCTIONAL CHANGES CORRELATE WITH COGNITIVE DYSFUNCTION IN FRIEDREICH'S ATAXIA: AN RS-fMRI STUDY

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Sirio Cocozza, Teresa Costabile, Enrico Tedeschi, Filomena Abate, Camilla Russo, Agnese Liguori, Walter Del Vecchio, Francesca Paciello, Mar...