Wednesday, May 17, 2017

Human Mitochondrial Ferredoxin 1 (FDX1) and Ferredoxin 2 (FDX2) Both Bind Cysteine Desulfurase and Donate Electrons for Iron–Sulfur Cluster Biosynthesis

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Cai K, Tonelli M, Frederick RO, Markley JL. Biochemistry. 2017;56(3):487-499. doi:10.1021/acs.biochem.6b00447.
Monday, May 15, 2017

Physical Therapy for Cerebellar Ataxia

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Akiyoshi Matsugi (2017). Physical Therapy for Cerebellar Ataxia, Neurological Physical Therapy, Prof. Toshiaki Suzuki (Ed.), InTech, ISBN 97...
Sunday, May 14, 2017

Inducible And Reversible Phenotypes In A Novel Mouse Model Of Friedreich's Ataxia

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Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C. Jordan, Daniel H. Geschwind; bioRxiv 137265 This articl...
Saturday, May 13, 2017

Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo

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James L. Miller, Myriam Rai, Normand L. Frigon, Massimo Pandolfo, Juha Punnonen, Jeffrey R. Spencer; Neuropharmacology, Available online 1...
Friday, May 12, 2017

Building the patient community

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F Raffai and O Timmis; Gene Therapy (3 May 2017) doi:10.1038/gt.2017. There are many challenges in conducting rare disease research. The c...
Thursday, May 11, 2017

Improve Compassionate Use Programmes to ensure patients’ early access to medicines

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EURORDIS-Rare Diseases Europe has published a new position on compassionate use, calling for the adoption of measures to revolutionise patie...
Wednesday, May 10, 2017

Mechanisms of iron- and copper-frataxin interactions

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Thi Hong Lien Han, Jean-Michel Camadro, Renata Santos, Emmanuel Lesuisse, Jean Michel El Hage Chahine and Nguyêt Thanh Ha-Duong; Meta...
Tuesday, May 9, 2017

Peripheral nerve ultrasound in friedreich’s ataxia

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Eoin Mulroy, Luciana Pelosi, Purwa Joshi, Ruth Leadbetter, Miriam Rodrigues, Stuart Mossman, Richard Roxburgh; J Neurol Neurosurg Psychiatry...
Monday, May 8, 2017

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

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Abela L, Spiegel R, Crowther LM, Klein A, Steindl K, Papuc SM, Joset P, Zehavi Y, Rauch A, Plecko B, Simmons TL. PLoS ONE 12(5): e0176363. D...
Sunday, May 7, 2017

Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests

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Saccà, F., Costabile, T., Abate, F., Liguori, A., Paciello, F., Pane, C., De Rosa, A., Manganelli, F., De Michele, G. and Filla, A. Journal ...