Monday, February 26, 2018

GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLĪ³ and depends upon the endonuclease domain in MLH3 isoform one

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Anasheh Halabi Kayla T B Fuselier Ed Grabczyk. Nucleic Acids Research, gky143, doi:10.1093/nar/gky143 DNA repeat expansion underlies doz...
Friday, February 23, 2018

BMN 290 for Friedreich's Ataxia

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News provided by BioMarin Pharmaceutical Inc.; SAN RAFAEL, Calif., Feb. 22, 2018 /PRNewswire/ In the fourth quarter of 2017, BioMarin anno...
Thursday, February 22, 2018

Mapping the Structural Determinants Required for AAVrh.10 Transport across the Blood-Brain Barrier

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Blake H. Albright, Claire M. Storey, Giridhar Murlidharan, Ruth M. Castellanos Rivera, Garrett E. Berry, Victoria J. Madigan, Aravind Asokan...

Hepcidin, an emerging and important player in brain iron homeostasis

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Driton Vela. Journal of Translational Medicine 201816:25 doi:10.1186/s12967-018-1399-5 Iron dysregulation has been observed consistently i...
Wednesday, February 21, 2018

Perceived Fatigue and Energy are Independent Unipolar States: Supporting Evidence

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Bryan D. Loy, Michelle H. Cameron, Patrick J. O'Connor, Medical Hypotheses, Available online 19 February 2018, ISSN 0306-9877, doi:10.10...

Progress in the treatment of Friedreich ataxia

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Geneieve Tai, Louise A. Corben, Eppie M. Yiu, Sarah C. Milne, Martin B. Delatycki, Neurologia i Neurochirurgia Polska, Available online 19 F...
Tuesday, February 20, 2018

Meet Our Scientists. Ernest Giralt: "There are many diseases caused by failures in the protein-protein interactions”

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IRB Barcelona, Institutional news. 14 Feb 2018 The Meet Our Scientists series presents Ernest Giralt, doctor of chemical sciences, who is ...

Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation

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Mahsa Shabani & Pascal Borry; European Journal of Human Geneticsvolume 26, pages149–156 (2018) doi:10.1038/s41431-017-0045-7 Genetic d...
Friday, February 16, 2018

Low apolipoprotein A-I levels in Friedreich’s ataxia and in frataxin-deficient cells: Implications for therapy.

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QingQing Wang, Lili Guo, Cassandra J. Strawser, Lauren A. Hauser, Wei-Ting Hwang, Nathaniel W. Snyder, David R. Lynch, Clementina Mesaros, I...
Thursday, February 15, 2018

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology

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Theresa A. Zesiewicz, George Wilmot, Sheng-Han Kuo, Susan Perlman, Patricia E. Greenstein, Sarah H. Ying, Tetsuo Ashizawa, S.H. Subramony, J...