Friedreich Ataxia Scientific News

Friedreich Ataxia and close related scientific news. Topics related to rare diseases.

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...
Thursday, August 30, 2018

Child Neurology: Friedreich ataxia with upper motor neuron findings

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Elizabeth A. Harvey, Kimberly S. Jones; Neurology Aug 2018, 91 (9) 426-428; DOI: 10.1212/WNL.0000000000006086 A 16-year-old boy with hyper...
Wednesday, August 29, 2018

DNA repair in trinucleotide repeat ataxias

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Yau, W. Y., O'Connor, E. , Sullivan, R. , Akijian, L. and Wood, N. W. (2018), FEBS J. Accepted Author Manuscript. doi:10.1111/febs.14644...
Friday, August 24, 2018

Novel Epigenetic Techniques Provided by the CRISPR/Cas9 System.

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Nina Xie, Yafang Zhou, Qiying Sun, and Beisha Tang, Stem Cells International, vol. 2018, Article ID 7834175, 12 pages, 2018. doi:10.1155/201...
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