A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools. Geneieve Tai, Louise A Corben, Lyle Gurrin, Eppie M Yiu, Andrew Churchyard, Michael Fahey, Brian Hoare, Sharon Downie, Martin B Delatycki; J Neurol Neurosurg Psychiatry jnnp-2014-308022Published Online First: 11 August 2014 doi:10.1136/jnnp-2014-308022

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Yogesh K. Chutake, Christina Lam, Whitney N. Costello, Michael Anderson and Sanjay I. Bidichandani; Ann Neurol. http://dx.doi.org/10.1002/ana.24249; 2014

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's Ataxia. Sunil Sahdeo, Brian Scott, Marissa McMackin, Mittal Jasoliya, Brandon Brown2, Heike Wulff, Sue Perlman, Mark Pook and Gino Cortopassi; Hum. Mol. Genet. (2014) doi: 10.1093/hmg/ddu408 First published online: August 11, 2014

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Monitoring mood states in everyday life: A new device for patients with cerebellar ataxia

Monitoring mood states in everyday life: A new device for patients with cerebellar ataxia, Silvia Clausi, Fabio Aloise, Maria P. Contento, Luigi Pizzamiglio, Marco Molinari, Maria Leggio; Psychiatry Research, Available online 1 August 2014, ISSN 0165-1781, http://dx.doi.org/10.1016/j.psychres.2014.07.051.


The preliminary data underscore the necessity to implement specific instruments to examine mood disorders in neurological patients. The MoMo device may be extremely valuable in clinical practice, allowing physicians to evaluate daily and weekly mood fluctuations during rehabilitation, pharmacological therapy, and psychotherapy, particularly in neurological patients.

AmorChem, Université Laval and CHU de Québec to collaborate on Friedreich’s Ataxia project

AmorChem, Université Laval and CHU de Québec to collaborate on Friedreich’s Ataxia project. by Biotechnology Focus • August 5, 2014 • Orphan drugs, Science Focus

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia

Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. Genki Hayashi, Yan Shen, Theresa L. Pedersen, John W. Newman, Mark Pook and Gino Cortopassi; Hum. Mol. Genet. (2014) doi: 10.1093/hmg/ddu407 First published online: August 7, 2014

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Medical management of hereditary optic neuropathies

Medical management of hereditary optic neuropathies. La Morgia C, Carbonelli M, Barboni P, Sadun AA and Carelli V; Front. Neurol. 5:141. doi: 10.3389/fneur.2014.00141

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Hypertrophic cardiomyopathy: a heart in need of an energy bar?

Hypertrophic cardiomyopathy: a heart in need of an energy bar?. Styliani Vakrou and M Roselle Abraham; Front. Physiol. 5:309. doi: 10.3389/fphys.2014.00309

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Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice

Mesenchymal Stem Cells Improve Motor Functions and Decrease Neurodegeneration in Ataxic Mice. Jonathan Jones, Alicia Estirado, Carolina Redondo, Jesus Pacheco-Torres, Maria-Salomé Sirerol-Piquer, José Manuel Garcia-Verdugo and Salvador Martinez; Molecular Therapy accepted article preview 29 July 2014; doi: 10.1038/mt.2014.143

Bone marrow mesenchymal stem cell transplantation, both autologous and allogeneic, is a feasible therapeutic option to consider in delaying the neurodegeneration observed in the dorsal root ganglia of Friedreich´s ataxia patients.

Hierarchical Virtual Screening Approaches in Small Molecule Drug Discovery

Hierarchical Virtual Screening Approaches in Small Molecule Drug Discovery. Ashutosh Kumar, Kam Y.J. Zhang,Methods, Available online 27 July 2014, ISSN 1046-2023, http://dx.doi.org/10.1016/j.ymeth.2014.07.007.

Several virtual screening studies are discussed to demonstrate the successful application of hierarchical virtual screening in small molecule drug discovery. Scaffold searches identified a series of compounds able to disrupt frataxin/ubiquitin PPI, resulted in the identification of one compound that prevented frataxin ubiquitination and degradation.