Sunday, July 9, 2017

Drosophila melanogaster Models of Metal-Related Human Diseases and Metal Toxicity

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Pablo Calap-Quintana, Javier González-Fernández, Noelia Sebastiá-Ortega, José Vicente Llorens, Orcid and María Dolores Moltó; Int. J. Mol. S...
Wednesday, July 5, 2017

Selected missense mutations impair frataxin processing in Friedreich ataxia

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Elisia Clark, Jill S. Butler, Charles J. Isaacs, Marek Napierela and David R. Lynch; Annals of Clinical and Translational Neurology. doi: 10...
Thursday, June 29, 2017

Friedreich’s ataxia associated with marfanoid features & alopecia areata-rare disease manifestations or chance association?

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Chandramohan Sharma, Banshilal Kumawat, Maulik Panchal, Kaushik Rana, Indian Journal of Medical Specialities, Available online 19 June 2017,...
Wednesday, June 28, 2017

Cerebellar ataxia and intrathecal baclofen therapy: Focus on patients´ experiences

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Berntsson SG, Landtblom A-M, Flensner G; PLoS ONE 12(6): e0180054. https://doi.org/10.1371/journal.pone.0180054 Elucidating patients´ expe...
Thursday, June 22, 2017

Reata Pharmaceuticals, Inc. Receives Orphan Drug Designation For Omaveloxolone For The Treatment Of Friedreich’s Ataxia

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RVING, Texas, June 22, 2017 (GLOBE NEWSWIRE) -- Reata Pharmaceuticals, Inc. (Nasdaq:RETA) (“Reata” or “the Company”), a clinical-stage bioph...
Tuesday, June 20, 2017

Muscle ultrasound comparison between patients with early and delayed onset Friedreich's ataxia – Preliminary data

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R.J. Verbeek, A.J.E. Waalkens, M.J. Kuiper, C.C. Verschuuren-Bemelmans, J.H. van der Hoeven, J.J. de Vries, J. van Gaalen, M.A.A.P. Willemse...
Monday, June 19, 2017

Genotype-phenotype correlation in Friedreich's ataxia

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G. Kovacevic, S. Todorovic, I. Novakovic, D. Pavicevic Savic, V. Milic Rasic, M. Svetel, V. Dobricic; European Journal of Paediatric Neurolo...
Saturday, June 17, 2017

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later

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Mario Mascalchi, Andrea Bianchi, Stefano Ciulli, Andrea Ginestroni, Marco Aiello, Maria Teresa Dotti, Fabrizio Salvi, Emanuele Nicolai, Andr...
Friday, June 16, 2017

DNA trinucleotide (GAA) repeats in human genome: hint for disease pathogenesis?

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Himanshu Narayan Singh, Barbara Scheiber-Mojdehkar, and Moganty R. Rajeswari, Journal of Biomolecular Structure and Dynamics Vol. 0 , Iss. j...
Wednesday, June 7, 2017

Neurodegenerative disease mechanism and potential drug identified: Offers hope for patients with Friedreich's Ataxia and related diseases

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University of California - Davis. ScienceDaily, 6 June 2017. Two new studies of neurodegenerative diseases linked to mitochondrial defects...