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...

Company hopes to speed up payments for clinical trial patients

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(Action News) KING OF PRUSSIA, Pa. Wednesday, August 22, 2018 Clinical trials help drive medical advances. However, some patients hedge at ...
Thursday, August 23, 2018

PTC Therapeutics Successfully Completes Acquisition of Agilis Biotherapeutics

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SOUTH PLAINFIELD, N.J., Aug. 23, 2018 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT), today announced that it has successfully comple...