Thursday, November 21, 2019

Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures

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Mohammadmersad Ghorbani, Françoise Pousset, Allan Tucker, Stephen Swift, Paola Giunti, Michael Parkinson, David Gilbert, XiaoHui Liu, Annett...
Wednesday, November 20, 2019

Metformin-dependent Exacerbation of Pathologies in Friedreich’s Ataxia

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Free Radical Biology and Medicine, Volume 145, Supplement 1, 2019, Page S81, doi:10.1016/j.freeradbiomed.2019.10.216. One case report desc...
Tuesday, November 19, 2019

Left ventricular structural and functional changes in Friedreich ataxia – Relationship with body size, sex, age and genetic severity

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Peverill RE, Romanelli G, Donelan L, Hassam R, Corben LA, Delatycki MB (2019); PLoS ONE 14(11): e0225147. doi:10.1371/journal.pone.0225147 ...
Tuesday, November 12, 2019

Minoryx Therapeutics receives Orphan Drug Designation from the European Commission for leriglitazone in the treatment of Friedreich’s Ataxia

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Mataró, Barcelona, Spain and Charleroi, Belgium, November 12, 2019 – Minoryx Therapeutics, a company that specializes in the development of ...
Monday, November 11, 2019

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

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Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendij...
Sunday, November 10, 2019

Temporal but not spatial dysmetria relates to disease severity in FA

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Manuela Corti, Agostina Casamento Moran, Stefan Delmas, Samantha Bracksieck, Jessica Bowman, Blake Meyer, Samantha Norman, Sub Subramony, an...
Saturday, November 9, 2019

Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy

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ommaso Schirinzi, Andrea Sancesario, Enrico Bertini, Enrico Castelli, Gessica Vasco. Cerebellum (2019). Doi:10.1007/s12311-019-01084-8 FRD...
Friday, November 8, 2019

Induced pluripotent stem cell-derived primary proprioceptive neurons as Friedreich ataxia cell model

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Chiara Dionisi, Myriam Rai, Marine Chazalon, Serge Schiffmann, Massimo Pandolfo, bioRxiv 829358 doi:10.1101/829358 We modified the dual-SM...
Wednesday, November 6, 2019

Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich’s Ataxia (FRDA) Patients

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Pathak D , Srivastava AK , Padma MV , Gulati S, Rajeswari MR; Front. Neurosci., 14 October 2019 doi:10.3389/fnins.2019.01054 In this study...
Sunday, November 3, 2019

Evaluation of antibodies for western blot analysis of frataxin protein isoforms

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Liwei Weng, Qingqing Wang, Sixiang Yu, Xiaolu Yang, David R. Lynch, Clementina Mesaros, Ian A. Blair, Journal of Immunological Methods, Volu...