Friday, February 15, 2019

Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich’s Ataxia Mouse Model

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Belén Mollá, Diana C. Muñoz-Lasso, Pablo Calap, Angel Fernandez-Vilata, María de la Iglesia-Vaya, Federico V. Pallardó, Maria Dolores Moltó,...
Wednesday, February 13, 2019

Fly screens for FA

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Ellen P. Neff. Dis. Model Mech.11, dmm033811 (2018) doi:10.1038/s41684-018-0143-3 Friedreich’s ataxia (FA) is a degenerative disorder caus...
Monday, February 11, 2019

Global Implications of Local Unfolding Phenomena, Probed by Cysteine Reactivity in Human Frataxin

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Santiago E. Faraj, Martín E. Noguera, José María Delfino & Javier Santos; Scientific Reportsvolume 9, Article number: 1731 (2019) doi:10...
Saturday, February 9, 2019

The patient’s view on rare disease trial design – a qualitative study

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C. M. W. Gaasterland, M. C. Jansen – van der Weide, M. J. du Prie – Olthof, M. Donk, M. M. Kaatee, R. Kaczmarek, C. Lavery, K. Leeson-Beever...

Structural and functional characterization of a frataxin from a thermophilic organism

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Rasheed, M. , Jamshidiha, M. , Puglisi, R. , Yan, R. , Cota, E. and Pastore, A. (2019), FEBS J, 286: 495-506. doi:10.1111/febs.14750 Frata...
Friday, February 1, 2019

Cardiomiòcits de rata com a model d'Atàxia de Friedreich: alteracions cel·lulars i aproximacions terapèutiques

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Purroy Lledós, Rosa. Universitat de Lleida. Departament de Ciències Mèdiques Bàsiques, (03-12-2018) Tesis, Director/a: Tamarit Sumalla, Jor...
Wednesday, January 30, 2019

n $1.9B Alliance, Neurocrine to Develop Voyager Gene Therapies for Parkinson’s, Friedreich’s Ataxia

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29 ene. 2019. Several sources: Neurocrine Biosciences will partner with Voyager Therapeutics to develop and commercialize its gene therapy p...
Tuesday, January 29, 2019

Correction to Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia

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Guo L, Wang Q, Weng L, Hauser LA, Strawser CJ, Rocha AG, Dancis A, Mesaros C, Lynch DR, Blair IA. Anal Chem. 2019 Jan 24. doi:10.1021/acs.an...
Sunday, January 27, 2019

Patient involvement in medical research: what patients and physicians learn from each other

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Kalen Young, Dana Kaminstein, Ana Olivos, Cristina Burroughs, Celeste Castillo-Lee, Joyce Kullman, Carol McAlear, Dianne G. Shaw, Antoine Sr...
Wednesday, January 23, 2019

Rare Diseases Inform Myocardial Phenotypes for Precision Medicine

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Macrae, Calum A., Journal of Cardiac Failure , Volume 24 , Issue 10 , 680 - 681 Friedreich's ataxia (FA) is an autosomal recessive “tr...