Friedreich Ataxia Scientific News

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

Friday, November 23, 2018

Mitochondrial calcium signalling and neurodegenerative diseases

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Elena Britti, Fabien Delaspre, Jordi Tamarit, Joaquim Ros; Neuronal Signaling Dec 2018, 2 (4) NS20180061; DOI: 10.1042/NS20180061 Mitochon...
Thursday, November 22, 2018

FAST-1 antisense RNA epigenetically alters FXN expression

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Hajar Mikaeili, Madhavi Sandi, Aurélien Bayot, Sahar Al-Mahdawi & Mark A. Pook; Scientific Reports, volume 8, Article number: 17217 (201...
Wednesday, November 21, 2018

NMR as a Tool to Investigate the Processes of Mitochondrial and Cytosolic Iron-Sulfur Cluster Biosynthesis

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Cai, K.; Markley, J.L.; Molecules 2018, 23, 2213. doi:10.3390/molecules23092213 Defects in protein components of the mitochondrial ISC mac...
Tuesday, November 20, 2018

Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes

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Lili Guo, Qingqing Wang, Liwei Weng, Lauren A. Hauser, Cassandra J. Strawser, Clementina Mesaros, David R. Lynch & Ian A. Blair; Scienti...
Sunday, November 18, 2018

Emerging and Dynamic Biomedical Uses of Ferritin

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Brian Chiou and James R. Connor; Pharmaceuticals 2018, 11(4), 124; doi:10.3390/ph11040124 Review One interesting new development has bee...
Friday, November 16, 2018

Evidence supporting regulatory-decision making on orphan medicinal products authorisation in Europe: methodological uncertainties

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Caridad Pontes, Juan Manuel Fontanet, Roser Vives, Aranzazu Sancho, Mònica Gómez-Valent, José Ríos, Rosa Morros, Jorge Martinalbo, Martin Po...

Plasma Markers of Neurodegeneration Are Raised in Friedreich’s Ataxia

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Zeitlberger Anna M., Thomas-Black Gilbert, Garcia-Moreno Hector, Foiani Martha, Heslegrave Amanda J., Zetterberg Henrik, Giunti Paola; Front...
Thursday, November 15, 2018

Neuromuscular diseases with hypertrophic cardiomyopathy

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Cesar S.; Global Cardiology Science and Practice 2018:27 doi:10.21542/gcsp.2018.27 Patient with FA and HCM have an early onset within the ...
Wednesday, November 14, 2018

Longitudinal dentate nuclei iron concentration and atrophy in Friedreich ataxia: IMAGE-FRDA

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Phillip Ward, Ian H Harding, Thomas G Close, Louise A Corben, Martin B Delatycki, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F. Egan. ...

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia

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Lynch, D. R., Farmer, J. , Hauser, L. , Blair, I. A., Wang, Q. Q., Mesaros, C. , Snyder, N. , Boesch, S. , Chin, M. , Delatycki, M. B., Giun...
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Juan Carlos Baiges
Tortosa, Catalunya, Spain
BSc, MSc (Pharmacy), MSc (Computer science)
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