Le phénotype atypique des maladies de Friedreich de début tardif et très tardif

Le phénotype atypique des maladies de Friedreich de début tardif et très tardif. C. Lecocq, K. Nguyen, J.-P. Azulay, A. Durr, M. Pandolfo, C. Tranchant, M. Anheim; Revue Neurologique, Volume 169, Supplement 2, April 2013, Pages A18-A19. http://dx.doi.org/10.1016/j.neurol.2013.01.036

Keywords: Friedreich, Lofa, vlofa, Ataxie cérébelleuse

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

The optic nerve: A “mito-window” on mitochondrial neurodegeneration. Alessandra Maresca, Chiara la Morgia, Leonardo Caporali, Maria Lucia Valentino, Valerio Carelli; Molecular and Cellular Neuroscience, Volume 55, July 2013, Pages 62-76. http://dx.doi.org/10.1016/j.mcn.2012.08.004

Keywords: Mitochondrial disease, Optic atrophy, Mitochondrial functions, LHON, DOA, Friedreich ataxia, Retinal ganglion cells.

A New Assessment Tool for Ataxia Syndromes: The "STAND" (Scale To Assess Ataxia and Neurologic Dysfunction)

A New Assessment Tool for Ataxia Syndromes: The "STAND" (Scale To Assess Ataxia and Neurologic Dysfunction). Theresa Zesiewicz, Jessica Shaw, Israt Jahan, Kelly Sullivan, Kevin Allison, Joseph Staffetti, Patricia Greenstein, Clifton Gooch, Tuan Vu; AAN poster 2013

Objective: To evaluate a new ataxia rating scale, the STAND (Scale To assess Ataxia and Neurologic Dysfunction).

Families Push for New Ways to Research Rare Diseases

Families Push for New Ways to Research Rare Diseases . A version of this article appeared February 19, 2013, on page D1 in the U.S. edition of The Wall Street Journal, with the headline: Families Push For New Ways To Research Rare Diseases.

Parents with children who have rare and debilitating diseases are pushing to change how researchers develop medicines to treat the conditions.

The idea of sharing medical data from patients with rare diseases is gaining backing from public-health officials at the National Institutes of Health and the Food and Drug Administration

Companies and academic researchers, though, are often reluctant to cede control of what they consider proprietary information.

Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study

Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study. Alonso V., Villaverde-Hueso A., Hens M.J., Morales-Piga A., Abaitua I., Posada de la Paz M.; Neuroepidemiology 2013;41:13-19 (DOI:10.1159/000346275).

Keywords: Hereditary ataxias (HA), genetically heterogeneous rare diseases, morbimortality of HA, national death index (1981-2008), Friedreich's ataxia (45.4%), non-Friedreich group(54.6%).

Discovery of a Novel Small Molecule Inhibitor Targeting the Frataxin/Ubiquitin Interaction via Structure-Based Virtual Screening and

Discovery of a Novel Small Molecule Inhibitor Targeting the Frataxin/Ubiquitin Interaction via Structure-Based Virtual Screening and. Antonio Lavecchia, Carmen Di Giovanni, Carmen Cerchia, Annapina Russo, Giulia Russo, Ettore Novellino; J. Med. Chem., Just Accepted Manuscript. DOI: 10.1021/jm3017199

Keywords: Friedreich ataxia (FRDA), frataxin, ubiquitin–proteasomal pathway, residue K147, potential ubiquitin-binding domain.

Motor manifestations and basal ganglia output activity: The paradox continues

Motor manifestations and basal ganglia output activity: The paradox continues. Jose A. Obeso, J. Guridi, A. Nambu and A.R. Crossman. Movement Disorders. Article first published online: 14 MAR 2013 | DOI: 10.1002/mds.25358

KeR-EGI, a new index of gait quantification based on electromyography

KeR-EGI, a new index of gait quantification based on electromyography. Kristell Bervet, Manon Bessette, Lucille Godet, Armel Crétual; Journal of Electromyography and Kinesiology, Available online 16 March 2013. http://dx.doi.org/10.1016/j.jelekin.2013.02.006

Keywords: Gait analysis in adults, EMG-based gait quantification, Gait Deviation Index, Edinburgh Visual Gait Score

Hopes For Personalized Regenerative Medicine After Monkeys Receive Transplanted Brain Cells

Hopes For Personalized Regenerative Medicine After Monkeys Receive Transplanted Brain Cells. University of Wisconsin-Madison. (2013, March 17). Medical News Today. Retrieved from http://www.medicalnewstoday.com/releases/257709.php.

For the first time, scientists have transplanted neural cells derived from a monkey's skin into its brain and watched the cells develop into several types of mature brain cells, After six months, the cells looked entirely normal, and were only detectable because they initially were tagged with a fluorescent protein.



Citation: Induced Pluripotent Stem Cell-Derived Neural Cells Survive and Mature in the Nonhuman Primate Brain.
Marina E. Emborg, Yan Liu, Jiajie Xi, Xiaoqing Zhang, Yingnan Yin, Jianfeng Lu, Valerie Joers, Christine Swanson, James E. Holden, Su-Chun Zhang; Cell Reports - 14 March 2013 (OPEN ACCESS)

“Six sessions is a drop in the ocean”: an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias

“Six sessions is a drop in the ocean”: an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias. Gavin Daker-White, Julie Greenfield, John Ealing; Physiotherapy, Available online 15 March 2013, http://dx.doi.org/10.1016/j.physio.2013.02.001

Keywords: exploratory study, specialist neurological physiotherapy, improvements following therapy.