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.

Bilateral cochlear implantation in Friedreich's ataxia: A case study.

Bilateral cochlear implantation in Friedreich's ataxia: A case study.. Frewin B, Chung M, Donnelly N., Cochlear Implants Int. 2013 Mar 9. [Epub ahead of print]

Keywords: Friedreich's ataxia (FRDA), sound detection thresholds, auditory pathways, Electrophysiological testing, cochlear nerve, pre-neural cochlear function, temporal processing, frequency discrimination, speech perception, ANSD, hearing loss.

A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots

A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots. Devin Oglesbee, Karen Sanders, Charles Kroll, Ramanath Majumdar, Amber McDonald, Grazia Isaya, Dimitar Gavrilov, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo, Fred Lorey, Dietrich Matern. 2013 ACMG Annual Clinical Genetics meeting, Poster Presentations Phoenix Convention Center North Building.

Keywords: Friedreich ataxia, newborn screening pilot study, multiplex immunoassay, FXN levels, dried blood spots (DBS)

Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report

Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report; Lindsay Zetzsche, Ralitza Gavrilova, Devin Oglesbee; 2013 ACMG Annual Clinical Genetics meeting, Poster Presentations, Phoenix Convention Center North Building

Keywords: Friedreich ataxia, expansion allele in FXN, carrier for FRDA, blood protein frataxin level.

Complexes between two GAA Repeats within DNA introduced into Cos-1 cells.

Complexes between two GAA Repeats within DNA introduced into Cos-1 cells.. Krasilnikova MM.; Mob Genet Elements. 2012 Nov 1;2(6):267-271.

Keywords: Friedreich ataxia, GAA repeat, chromatin, genome instability, replication.