Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study. Vincenzo Libri MD,Cihangir Yandim PhD,Stavros Athanasopoulos MD,Naomi Loyse PhD,Theona Natisvili MSc,Pui Pik Law MSc,Ping Kei Chan PhD,Tariq Mohammad MBBS,Marta Mauri MSc,Kin Tung Tam BSc,James Leiper PhD,Sophie Piper MSc,Aravind Ramesh BM BCh,Michael H Parkinson MBBS,Les Huson PhD,Paola Giunti MD,Prof Richard Festenstein FRCP. The Lancet - 1 May 2014; DOI: 10.1016/S0140-6736(14)60382-2

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia. C. Bonilha da Silva, F. P. G. Bergo, A. D'Abreu, F. Cendes, I. Lopes-Cendes and M. C. França Jr, European Journal of Neurology. Article first published online: 30 APR 2014 | DOI: 10.1111/ene.12448

Keywords: dentate nuclei; Friedreich's ataxia; MRI ; T2 relaxometry

Pathophysiogical and therapeutic progress in Friedreich ataxia

Pathophysiogical and therapeutic progress in Friedreich ataxia. H. Puccio, M. Anheim, C. Tranchant, Revue Neurologique, Available online 29 April 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2014.03.008.

Keywords: Friedreich ataxia; Mitochondria; Frataxine; Physiopathology; Therapeutic; Ataxie de Friedreich; Mitochondries; Frataxine; Physiopathologie; Approches thérapeutiques

REGENX Biosciences Enters Into License Agreement With AAVLife for Development of Treatments for Friedreich's Ataxia Using NAV® Vectors

REGENX Biosciences Enters Into License Agreement With AAVLife for Development of Treatments for Friedreich's Ataxia Using NAV® Vectors .

WASHINGTON, DC and PARIS, FRANCE--(Marketwired - Apr 29, 2014) - REGENX Biosciences, LLC announces that the company has entered into an agreement with AAVLife for the development and commercialization of products to treat Friedreich's ataxia (FA) using NAV technology.

"REGENX has been engaged with the team at AAVLife, including its stakeholders like the Friedreich's Ataxia Research Alliance (FARA), since first becoming aware of their gene therapy research results and during the company's process of formation. We are pleased to formally continue our collaboration with a team who has the leadership, expertise, resources, and commitment to patients that is required in order to develop innovative treatments for patients with FA through the application of NAV technology,"

Anaesthesia for correction of scoliosis in pediatric patient with Friedreich‘s ataxia

Anaesthesia for correction of scoliosis in pediatric patient with Friedreich‘s ataxia. G.L. Agámez Medina, E.J. Pantin, J. Lorthé Jr., P.J. Therrien, Revista Española de Anestesiología y Reanimación, Available online 26 April 2014, ISSN 0034-9356, http://dx.doi.org/10.1016/j.redar.2014.03.001.

Anestesia para corrección de escoliosis en paciente pediátrico con ataxia de Friedreich. Caso clínico

Keywords: Ataxia de Friedreich; Anestesia; Anestesia total intravenosa; Miocardiopatía hipertrófica; Diabetes; Escoliosis; Friedreich's ataxia; Anesthesia; Total intravenous anesthesia; Hypertrophic cardiomyopathy; Diabetes; Scoliosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschmann, Parkinsonism & Related Disorders, Available online 26 April 2014, ISSN 1353-8020, http://dx.doi.org/10.1016/j.parkreldis.2014.04.018.

Keywords: Friedreich Ataxia; Point Mutation; Disease Progression; Hemochromatosis; Genetic Counseling

Cross-sectional analysis of glucose metabolism in Friedreich Ataxia

Cross-sectional analysis of glucose metabolism in Friedreich Ataxia. Nathaniel R. Greeley, Sean Regner, Steve Willi, David R. Lynch, Journal of the Neurological Sciences, Available online 24 April 2014, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2014.04.015.

Keywords: Metabolism; diabetes; mitochondria; triplet repeat

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism. Bolinches-Amorós A, Mollá B, Pla-Martín D, Palau F and Gonzalez-Cabo P; Front. Cell. Neurosci. 8:124. doi: 10.3389/fncel.2014.00124

Keywords: Friedreich Ataxia, frataxin, Mitochondrial dysfunction, cellular senescence, Autophagy, calcium metabolism, ER-stress

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Cell and gene therapy for Friedreich ataxia - progress to date.

Cell and gene therapy for Friedreich ataxia - progress to date. Evans-Galea MV, Pebay A, Dottori M, Corben LA, Ong SH, Lockhart PJ, Delatycki MB.; Hum Gene Ther. 2014 Apr 21.

Epigenetic Therapy for Friedreich’s Ataxia: A Phase I Clinical Trial

Epigenetic Therapy for Friedreich’s Ataxia: A Phase I Clinical Trial. David Jacoby, James Rusche, Marco Iudicello, Stefania De Mercanti, Marinella Clerico, Marco Gibbin, Filomena Longo, Wenyan Miao, Myriam Rai, Antonio Piga, Massimo Pandolfo, and Luca Durelli; April 30, 2014 - Plenary - Contemporary Clinical Issues Plenary Session, Neurology April 8, 2014 vol. 82 no. 10 Supplement PL1.003