HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

M Rai, E Soragni, K Jenssen, R Burnett, D Herman… - PloS one, 2008 - journals.plos.org
Background Friedreich ataxia, an autosomal recessive neurodegenerative and cardiac
disease, is caused by abnormally low levels of frataxin, an essential mitochondrial protein …

PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia

D Marmolino, M Manto, F Acquaviva, P Vergara… - Plos one, 2010 - journals.plos.org
Background Cells from individuals with Friedreich's ataxia (FRDA) show reduced activities of
antioxidant enzymes and cannot up-regulate their expression when exposed to oxidative …

Drug Insight: antioxidant therapy in inherited ataxias

M Pandolfo - Nature Clinical Practice Neurology, 2008 - nature.com
The inherited ataxias are a large, heterogeneous group of neurodegenerative disorders
caused by a variety of gene mutations, the effects of which are exerted through different …

Multicellular models of Friedreich ataxia

H Puccio - Journal of neurology, 2009 - Springer
Patients with Friedreich ataxia (FRDA) have severely reduced levels of the mitochondrial
protein frataxin, which results from a large GAA triplet-repeat expansion within the frataxin …

Ion mobility-mass spectrometry reveals details of formation and structure for GAA· TCC DNA and RNA triplexes

J Li, A Begbie, BJ Boehm, A Button… - Journal of The …, 2018 - ACS Publications
DNA and RNA triplexes are thought to play key roles in a range of cellular processes such
as gene regulation and epigenetic remodeling and have been implicated in human disease …

PhysioVinci–A first approach on a physical rehabilitation game

T Martins, M Araújo, V Carvalho, F Soares… - … Games Development and …, 2014 - Springer
Several studies have shown very positive results regarding the use of serious games as
rehabilitation tools for individuals with physical disabilities, mainly because the game …

Application for physiotherapy and tracking of patients with neurological diseases-preliminary studies

T Martins, V Carvalho, F Soares - 2013 IEEE 2nd International …, 2013 - ieeexplore.ieee.org
As a significant number of individuals has severe motor disabilities, due to neurological
diseases, it is important to provide appropriate rehabilitation programs to improve their …

Monitoring of patients with neurological diseases: development of a motion tracking application using image processing techniques

TRSM Pereira, V Carvalho, F Soares - International Journal of …, 2013 - igi-global.com
The number of people with severe physical disabilities is considerable and, therefore, it is
essential to provide a correct physical therapy program to enhance their life quality. Some …

Development of a system for monitoring and tracking of physiotherapeutic movements in patients with neurological diseases

T Martins, V Carvalho, F Soares - 2013 IEEE 3rd Portuguese …, 2013 - ieeexplore.ieee.org
Recent research studies has shown the great contribution that serious games offer in the
area of biomedical rehabilitation of injured persons. Following this trend, we intend to …

Mutations causing Friedreich ataxia

M Pandolfo - Future Neurology, 2007 - Taylor & Francis
Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease primarily affecting
the nervous system and the heart. The identification of the FRDA gene (FXN) encoding the …