Wednesday, May 10, 2017

Mechanisms of iron- and copper-frataxin interactions

›
Thi Hong Lien Han, Jean-Michel Camadro, Renata Santos, Emmanuel Lesuisse, Jean Michel El Hage Chahine and Nguyêt Thanh Ha-Duong; Meta...
Tuesday, May 9, 2017

Peripheral nerve ultrasound in friedreich’s ataxia

›
Eoin Mulroy, Luciana Pelosi, Purwa Joshi, Ruth Leadbetter, Miriam Rodrigues, Stuart Mossman, Richard Roxburgh; J Neurol Neurosurg Psychiatry...
Monday, May 8, 2017

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

›
Abela L, Spiegel R, Crowther LM, Klein A, Steindl K, Papuc SM, Joset P, Zehavi Y, Rauch A, Plecko B, Simmons TL. PLoS ONE 12(5): e0176363. D...
Sunday, May 7, 2017

Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests

›
Saccà, F., Costabile, T., Abate, F., Liguori, A., Paciello, F., Pane, C., De Rosa, A., Manganelli, F., De Michele, G. and Filla, A. Journal ...
Friday, May 5, 2017

Dysphagia in Friedreich Ataxia

›
Megan J. Keage, Martin B. Delatycki, Isabelle Gupta, Louise A. Corben, Adam P. Vogel; Dysphagia (2017). doi:10.1007/s00455-017-9804-4 Orop...
Thursday, May 4, 2017

Glutathione as a Redox Biomarker in Mitochondrial Disease—Implications for Therapy

›
Gregory M. Enns and Tina M. Cowan; Journal of Clinical Medicine 2017, 6(5), 50; doi:10.3390/jcm6050050 “Do you feel any better?” is a comm...
Monday, May 1, 2017

The new top 10 most expensive drugs on the planet

›
Endpoints News. by John Carroll April 28, 2017 07:38 AM ¨5. Actimmune $572,292¨ Company: Horizon Category: Rare disease – orphan drug...
Sunday, April 30, 2017

Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells

›
Kevin Kemp Rimi Dey, Amelia Cook, Neil Scolding, Alastair Wilkins; Cerebellum (2017). doi:10.1007/s12311-017-0860-y The demonstration that...
Saturday, April 29, 2017

Frataxin Deficiency Impairs Mitochondrial Biogenesis in Cells, Mice and Humans

›
Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan L. Perlman, Gino A. Cortopassi; Hum Mol Genet 2017 ddx141. doi: 10.1093...
Friday, April 28, 2017

Dimethyl Fumarate Mediates Nrf2-dependent Mitochondrial Biogenesis in Mice and Humans

›
Genki Hayashi, Mittal Jasoliya, Francesco Saccà, Chiara Pane, Alessandro Filla, Angela Marsili, Giorgia Puorro, Roberta Lanzillo, Vincenzo B...