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...
Saturday, November 2, 2019

The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

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YAyşe Candayan, Gulshan Yunisova, Arman Çakar, Hacer Durmuş, A. Nazlı Başak, Yeşim Parman, Esra Battaloğlu. Neurogenetics (2019). doi:10.100...
Thursday, October 31, 2019

Potential biomarker identification for Friedreich’s ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion

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Marissa Z. McMackin, Blythe Durbin-Johnson, Marek Napierala, Jill S. Napierala, Luis Ruiz, Eleonora Napoli, Susan Perlman, Cecilia Giulivi, ...
Wednesday, October 30, 2019

PTC Therapeutics Reports Third Quarter 2019 Financial Results and Provides a Corporate Update

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SOUTH PLAINFIELD, N.J., Oct. 29, 2019 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced a corporate update and reported ...

Symposium updates Friedreich’s ataxia community on advances against FA

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Written by Anne DeLotto Baier · October 29, 2019 @ 12:55 pm · Filed under Hot News, Morsani College of Medicine, Neurosciences & Brain R...
Sunday, October 27, 2019

Predictors of Left Ventricular Dysfunction in Friedreich’s Ataxia in a 16-Year Observational Study

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Lise Legrand, Abdourahmane Diallo, Marie-Lorraine Monin, Claire Ewenczyk, Perrine Charles, Richard Isnard, Eric Vicaut, Gilles Montalescot, ...