Sunday, March 22, 2015

A longitudinal study of the Friedreich Ataxia Impact Scale

A longitudinal study of the Friedreich Ataxia Impact Scale; Geneieve Tai, Eppie M. Yiu, Louise A. Corben, Martin B. Delatycki, Journal of the Neurological Sciences, Available online 21 March 2015, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2015.03.024.

Tuesday, March 17, 2015

The promise of futility trials in neurological diseases

The promise of futility trials in neurological diseases. Marcus W. Koch, Lawrence Korngut, David G. Patry, Yahya Agha-Khani, Christopher White, Justyna R. Sarna, Michael Yeung, V. Wee Yong, Daniel Y. C. Heng, Gary Cutter, Luanne Metz; Nature Reviews Neurology (2015) doi:10.1038/nrneurol.2015.34

Basic research into neurological diseases continues to identify candidate therapies faster than they can be tested for their clinical utility, leading to a 'translational gap'.

Thursday, March 12, 2015

Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich’s ataxia

Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich’s ataxia. Li Y, Polak U, Bhalla A, Rozwadowska N, Butler JS, Lynch D, Dent SY, Napierala M; Mol Ther. 2015 Mar 11. doi: 10.1038/mt.2015.41.

Movement disorders: Friedreich ataxia today-preparing for the final battle

Movement disorders: Friedreich ataxia today-preparing for the final battle. De Michele G, Filla A; Nature Reviews Neurology (2015) doi:10.1038/nrneurol.2015.33 Published online 10 March 2015

Diffusion Tensor Imaging and Tract-Based Spatial Statistics Analysis in Friedreich’s Ataxia Patients

Diffusion Tensor Imaging and Tract-Based Spatial Statistics Analysis in Friedreich’s Ataxia Patients. Simone Carreiro Vieira Karuta, MD., Salmo Raskin, MD, PhD, Arnolfo de Carvalho Neto, MD, PhD, Emerson Leandro Gasparetto, MD, PhD, Thomas Doringe, (Physicist), Helio Afonso Ghizoni Teive, MD, PhD; Parkinsonism & Related Disorders, Available online 11 March 2015 doi:10.1016/j.parkreldis.2015.02.021

Wednesday, March 11, 2015

Las ambulancias para el cerebro reciben el impulso del RecerCaixa

Las ambulancias para el cerebro reciben el impulso del RecerCaixa.Institute for Research in Biomedicine (IRB Barcelona), 11 Mar 2015

El proyecto “Gate2Brain, lanzaderas peptídicas para la terapia de reemplazo proteico en la ataxia de Friedreich”, dirigido por Ernest Giralt, jefe del Laboratorio de Péptidos y Proteínas del Instituto de Investigación Biomédica (IRB Barcelona) y catedrático de la Universidad de Barcelona, y Javier Díaz Nido, del Centro de Biología Molecular Severo Ochoa (CBMSO), ha sido galardonado por el programa RecerCaixa, organizado por la Obra Social “la Caixa” con la colaboración de la Associació Catalana d’Universitats Públiques (ACUP).

Este proyecto tiene por objetivo establecer una nueva opción terapéutica para la ataxia de Friedreich, basada en el reemplazo de la proteína frataxina que falta en los pacientes, pero que se podría aplicar a otras enfermedades neurodegenerativas.


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Ambulances for the brain supported by the RecerCaixa Programme

Ambulances for the brain supported by the RecerCaixa Programme. Institute for Research in Biomedicine (IRB Barcelona), 11 Mar 2015

The project “Gate2Brain, peptide shuttles for protein replacement therapy in Friedreich’s ataxia”, led by Ernest Giralt, head of the Peptides and Proteins Lab at the Institute for Research in Biomedicine (IRB Barcelona) and full professor of the University of Barcelona, and by Javier Díaz Nido, at the Centro de Biología Molecular Severo Ochoa (CBMSO), has been awarded funding from the RecerCaixa Programme—an initiative of the Obra Social “la Caixa” with the collaboration of the Associació Catalana d’Universitats Públiques (ACUP).

This project seeks to establish a new therapeutic approach to Friedreich’s ataxia based on the replacement of the frataxin protein that patients lack. However, this approach could be used for other neurodegenerative diseases.


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Les ambulàncies per al cervell reben l’impuls del RecerCaixa (CAT)

Les ambulàncies per al cervell reben l’impuls del RecerCaixa. Institute for Research in Biomedicine (IRB Barcelona), 11 Mar 2015

El projecte “Gate2Brain, llançadores peptídiques per a la teràpia de reemplaçament proteic en l’atàxia de Friedreich”, dirigit per Ernest Giralt, cap del Laboratori de Pèptids i Proteïnes de l’Institut de Recerca Biomèdica (IRB Barcelona) i catedràtic de la Universitat de Barcelona, i Javier Díaz Nido, del Centre de Biologia Molecular Severo Ochoa (CBMSO), ha estat guardonat pel programa RecerCaixa, organitzat per l’Obra Social “la Caixa” amb la col·laboració de l’Associació Catalana d’Universitats Públiques (ACUP).

Aquest projecte té per objectiu establir una nova opció terapèutica per a l’atàxia de Friedreich, basada en el reemplaçament de la proteïna frataxina que manca en els pacients, però que es podria aplicar a altres malalties neurodegeneratives.


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Tuesday, March 10, 2015

Experiences of Someone with a Neuromuscular Disease in Operating a PC (and Ways to Successfully Overcome Challenges)

Experiences of Someone with a Neuromuscular Disease in Operating a PC (and Ways to Successfully Overcome Challenges). ACM Transactions on Accessible Computing (TACCESS) Volume 6 Issue 2, March 2015 ISSN: 1936-7228 EISSN: 1936-7236 doi 10.1145/2700436

This article describes the experiences of the first author, who was diagnosed with the neuromuscular disease Friedreich's Ataxia more than 25 years ago

Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle

Sensorimotor skills in Fxn KO/Mck mutants deficient for frataxin in muscle Mohammed Filali, Robert Lalonde, Catherine Gérard, Zoé Coulombe, Jacques P. Tremblay, Brain Research, Available online 10 March 2015, ISSN 0006-8993, http://dx.doi.org/10.1016/j.brainres.2015.03.001.