Monday, March 7, 2016

Near-infrared spectroscopy for medical applications: Current status and future perspectives

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Akikazu Sakudo, Clinica Chimica Acta, Available online 12 February 2016, ISSN 0009-8981, doi:10.1016/j.cca.2016.02.009. Chronic obstructiv...
Friday, March 4, 2016

An Overview of Direct Somatic Reprogramming: The Ins and Outs of iPSCs (Review )

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Siddharth Menon, Siny Shailendra, Andrea Renda, Michael Longaker and Natalina Quarto; Int. J. Mol. Sci. 2016, 17(1), 141; doi:10.3390/ijms17...
Wednesday, March 2, 2016

The medical experience of a patient with a rare disease and her family

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Roberta Garau. Orphanet Journal of Rare Diseases201611:19. DOI: 10.1186/s13023-016-0401-7 OPEN ACCESS This letter considers the main cha...
Sunday, February 28, 2016

Moving beyond DNA: A brief history of epigenetics

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Posted February 18, 2016 in Episona Blog by Mike Karsian The search for new therapies for Friedreich's Ataxia based on epigenetics is ...
Friday, February 26, 2016

Targeted RNA or BDNF gene transfer protects against frataxin deficiency

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Ian Fyfe, Research Highlight: Nature Reviews Neurology (2016), doi:10.1038/nrneurol.2016.19, Published online 26 February 2016 In two rece...
Thursday, February 25, 2016

Genotoxicity in Mice Following AAV Gene Delivery: A Safety Concern for Human Gene Therapy?

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Randy J Chandler, Matthew C LaFave, Gaurav K Varshney, Shawn M Burgess and Charles P Venditti; (Nature) Molecular Therapy 24, 198-201 (Febru...

MicroRNAs Form Triplexes with Double Stranded DNA at Sequence-Specific Binding Sites; a Eukaryotic Mechanism via which microRNAs Could Directly Alter Gene Expression

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Paugh SW, Coss DR, Bao J, Laudermilk LT, Grace CR, Ferreira AM, M. Brett Waddell, Granger Ridout, Deanna Naeve, Michael Leuze, Philip F. LoC...
Wednesday, February 24, 2016

Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

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Dorota Hoffman-Zacharska , Tomasz Mazurczak, Tomasz Zajkowski, Renata Tataj, Paulina Górka-Skoczylas, Katarzyna Połatyńska, Łukasz Kępczyńsk...

Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich’s Ataxia

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Laura Ludovica Gramegna, Caterina Tonon , David Neil Manners, Antonella Pini, Rita Rinaldi, Stefano Zanigni, Claudio Bianchini, Stefania Eva...
Tuesday, February 23, 2016

CNS Drug Delivery: Beyond the Spinal Cord

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Recently the intrathecal administration has been proposed as part of a hopeful therapy for FA ( Intrathecal delivery of frataxin mRNA encaps...