Genetics of mitochondrial respiratory chain deficiencies

Genetics of mitochondrial respiratory chain deficiencies, A. Rötig, Revue Neurologique, Available online 3 May 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2013.11.006.

Keywords: Genetic diseases; Mitochondria; Respiratory chain; Mitochondrie; Chaîne respiratoire; Maladies génétiques

The brain is hypothermic in patients with mitochondrial diseases

The brain is hypothermic in patients with mitochondrial diseases. Mario Rango, Andrea Arighi, Cristiana Bonifati, Roberto Del Bo, Giacomo Comi and Nereo Bresolin; Journal of Cerebral Blood Flow & Metabolism (2014) 34, 915–920; doi:10.1038/jcbfm.2014.38; published online 12 March 2014

Keywords: activation; brain metabolism; brain temperature; mitochondrial diseases; recovery; visual stimulation

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome . Groh M, Lufino MMP, Wade-Martins R, Gromak N; PLoS Genet 10(5): e1004318. doi:10.1371/journal.pgen.1004318

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Nicotinamide in Friedreich's ataxia: useful or not?

Nicotinamide in Friedreich's ataxia: useful or not?. The Lancet, Available online 30 April 2014, ISSN 0140-6736, http://dx.doi.org/10.1016/S0140-6736(14)60573-0.

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Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment

Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment Ataxia-UK Press release: 1st May 2014

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