Monday, December 11, 2017

Health-related quality of life among adults with diverse rare disorders

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Kathleen R. Bogart and Veronica L. Irvin; Orphanet Journal of Rare Diseases 201712:177 doi:10.1186/s13023-017-0730-1 Twenty-five to 30 mil...
Sunday, December 10, 2017

Biochemical Analyses of Human Iron–Sulfur Protein Biogenesis and of Related Diseases

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Oliver Stehling, Viktoria D. Paul, Janina Bergmann, Somsuvro Basu, Roland Lill, Methods in Enzymology, Academic Press, ISSN 0076-6879, doi:1...
Saturday, December 9, 2017

Computational drug repositioning for rare diseases in the era of precision medicine

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Brian Delavan, Ruth Roberts, Ruili Huang, Wenjun Bao, Weida Tong, Zhichao Liu, Drug Discovery Today, 2017, , ISSN 1359-6446, doi:10.1016/j.d...
Friday, December 8, 2017

Depressive symptoms in Friedreich ataxia

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Antonieta Nieto, Atteneri Hernández-Torres, Javier Pérez-Flores, Fernando Montón, International Journal of Clinical and Health Psychology, A...
Thursday, December 7, 2017

Mitochondrial pore opening and loss of Ca2 + exchanger NCLX levels occur after frataxin depletion

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R. Purroy, E. Britti, F. Delaspre, J. Tamarit, J. Ros, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Available online 6 ...
Wednesday, December 6, 2017

Friedreich ataxia: Clinical feature and electrophysiological symptoms

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Oguri M. ; J Neurosci Rural Pract [serial online] 2017 [cited 2017 Dec 6];8:691-2. DOI: 10.4103/jnrp.jnrp_248_17 The ataxia is slowly prog...
Tuesday, December 5, 2017

Iron-induced oligomerization of human FXN 81-210 and bacterial CyaY frataxin and the effect of iron chelators

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Eva-Christina Ahlgren, Mostafa Fekry, Mathias Wiemann, Christopher A. Söderberg, Katja Bernfur, Olex Gakh, Morten Rasmussen, Peter Højrup, C...
Monday, December 4, 2017

C-Path And FARA Announce Collaborative Data Aggregation Project For Friedreich’s Ataxia

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Tucson, AZ, and Downingtown, PA — Dec. 4, 2017 — Critical Path Institute's (C-Path) Data Collaboration Center (DCC) and the Friedreich...
Sunday, December 3, 2017

The role of oxidative stress in Friedreich's ataxia

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Federica Lupoli, Tommaso Vannocci, Giovanni Longo, Neri Niccolai and Annalisa Pastore. FEBS Letters, DOI: 10.1002/1873-3468.12928 Friedrei...
Saturday, December 2, 2017

Peripheral nerve ultrasound in Friedreich ataxia

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Mulroy, E., Pelosi, L., Leadbetter, R., Joshi, P., Rodrigues, M., Mossman, S., Kilfoyle, D. and Roxburgh, R. (2017). Muscle Nerve. doi: 10.1...