Wednesday, July 20, 2016

Crystal Structure of Bacillus subtilis Cysteine Desulfurase SufS and Its Dynamic Interaction with Frataxin and Scaffold Protein SufU

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Blauenburg B, Mielcarek A, Altegoer F, Fage CD, Linne U, Bange G, Mohamed A. Marahiel. PLoS ONE 11(7): e0158749. doi:10.1371/journal.pone.01...
Tuesday, July 19, 2016

Frenkel: one of the forerunners of neurorehabilitation? / Frenkel: ¿un precursor de la neurorrehabilitación?

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Cano-de-la-Cuerda R, Rev Neurol. 2016 Jul 16;63(2):79-84. [Article in Spanish] Neurorehabilitation is understood as the process intended...
Sunday, July 17, 2016

Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?

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Filip P, Bareš M, Brázdil M.; Tremor Other Hyperkinet Mov. 2016; 6. doi: 10.7916/D8KH0NBT Open-access  (article distributed under the ter...
Saturday, July 16, 2016

Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich’s Ataxia Cells

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Jeannine Gerhardt, Angela D. Bhalla, Jill Sergesketter Butler, James W. Puckett, Peter B. Dervan, Zev Rosenwaks, Marek Napierala, Cell Repor...
Thursday, July 14, 2016

Downregulation of GSTK1 Is a Common Mechanism Underlying Hypertrophic Cardiomyopathy

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Nishimura Yuhei, Sasagawa Shota, Okabe Shiko, Murakami Soichiro, Ashikawa Yoshifumi, Yuge Mizuki, Kawaguchi Koki, Kawase Reiko, Okamoto Ryuj...
Wednesday, July 13, 2016

Big Data in medical research and EU data protection law: challenges to the consent or anonymise approach

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Mostert M, Bredenoord AL, Biesaart MC, van Delden JJ., European Journal of Human Genetics (2016) 24, 956–960; doi:10.1038/ejhg.2015.239; pub...
Tuesday, July 12, 2016

The role of R-loops in the pathology of trinucleotide expansion diseases

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Matthias Groh, Natalia Gromak (Supervisor), Thesis, ORA Oxford University Research Archive Friedreich ataxia and fragile X syndrome are am...
Monday, July 11, 2016

Vestibulo-ocular reflex dynamics with head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 and Friedreich ataxia

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Luis, L., Costa, J., Muñoz, E., de Carvalho, M., Carmona, S., Schneider, E., Gordon, C.R., Valls-Solé, J.; Journal of Vestibular Research, ...
Sunday, July 10, 2016

Friedreich’s ataxia and Advanced Heart Failure: An Ethical Conundrum in Decision Making

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Peter Ivak, Alena Zumrová, Ivan Netuka, The Journal of Heart and Lung Transplantation, Available online 7 July 2016, ISSN 1053-2498, doi:10...
Friday, July 8, 2016

Deuterium switcheroo breathes life into old drugs

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Bethany Halford, Chemical & Engineering News, Volume 94 Issue 27 pp. 32-36 Issue Date: July 4, 2016 Drugmakers juggle isotopes in hope...