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International Journal of Clinical and Health Psychology, ISSN 1697-2600, 01/2018, Volume 18, Issue 1, pp. 18 - 26
Background/Objective: Almost no attention has been paid to depression in Friedreich ataxia (FRDA), a highly disabling cerebellar degenerative disease. Our aim... 
Cerebellum | Descriptive observational study | Cognitive slowing | Depression | Friedreich ataxia
Journal Article
International Journal of Clinical and Health Psychology, ISSN 1697-2600, 01/2018, Volume 18, Issue 1, pp. 18 - 26
Journal Article
Revista Colombiana de Cardiologia, ISSN 0120-5633, 2012, Volume 19, Issue 2, pp. 100 - 104
Infiltrative heart diseases are characterized by deposit of substances in the myocardium that cause a negative impact on the architecture of the ventricular... 
Friedreich's ataxia | Dilated cardiomyopathy | Idebenone | Infiltrative heart disease
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2017, Volume 95, Issue S259, p. n/a
Seven FA patients and 19 age-matched controls were prospectively selected. All participants underwent a neurological evaluation, a comprehensive... 
Diabetic retinopathy | Ataxia | Care and treatment | Patient outcomes | Eye | Retinal ganglion cells | Friedreich's ataxia | Optical Coherence Tomography | Retina | Visual acuity | Eye (anatomy) | Ganglion cells | Patients | Age | Acuity
Journal Article
Revista Colombiana de Cardiología, ISSN 0120-5633, 04/2012, Volume 19, Issue 2, pp. 100 - 104
Las cardiopatías infiltrativas se caracterizan por el depósito de sustancias en el miocardio que causan un impacto negativo en la arquitectura de la pared... 
cardiopatías infiltrativas | Friedreich's ataxia | ataxia de Friedreich | infiltrative heart disease | cardiomiopatía dilatada | idebenona | dilated cardiomyopathy | idebenone
Journal Article
Fisioterapia, ISSN 0211-5638, 04/2010, Volume 32, Issue 4, pp. 190 - 194
Objective: The objective of this study has been to evaluate diversity of the clinical phenotype of Friedreich's Ataxia and the interference that disease has in... 
Friedreich's ataxia | Phenotypic variability | Quality of life
Journal Article
PLOS ONE, ISSN 1932-6203, 01/2018, Volume 13, Issue 1, pp. e0190495 - e0190495
Synchrotron radiation based nanoscopic X-ray fluorescence (SR nano-XRF) analysis can visualize trace level elemental distribution in a fully quantitative... 
OXIDATIVE STRESS | PROTEIN | REDISTRIBUTION | MULTIDISCIPLINARY SCIENCES | CARDIOMYOPATHY | LIBRARY | IRON | COPPER | YEAST FRATAXIN | ZINC | DEFICIENCY | Friedreich Ataxia - metabolism | Limit of Detection | Reference Standards | Spectrometry, X-Ray Emission - methods | Cryopreservation | Friedreich Ataxia - pathology | Humans | Nanotechnology | Fibroblasts - metabolism | Index Medicus
Journal Article
Neurología (English Edition), ISSN 2173-5808, 05/2019, Volume 34, Issue 4, pp. 248 - 258
Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve... 
Ataxia-telangiectasia | Wilson disease | Recessive ataxia | Ataxia de Friedreich | Ataxia telangiectasia | Friedreich ataxia | Ataxias recesivas | Enfermedad de Wilson | Enfermedad de Niemann-Pick-tipo C | Niemann-Pick disease type C | Refsum disease | Enfermedad de Refsum
Journal Article
Pathologie Biologie, ISSN 0369-8114, 02/2014, Volume 62, Issue 1, pp. 41 - 48
Journal Article
Canadian Journal of Physiology and Pharmacology, ISSN 0008-4212, 3/2010, Volume 88, Issue 3, pp. 187 - 196
Defective iron utilization leading to either systemic or regional misdistribution of the metal has been identified as a critical feature of several different... 
Friedreich's ataxia | fer | anémie | ataxie de Friedreich | mitochondria | neurodegeneration | iron | oxidative damage | dommage oxydatif | anemia | mitochondries | neurodégénérescence
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 08/2019, Volume 130, Issue 8, pp. 1299 - 1310
To study using magnetoencephalography (MEG) the spatio-temporal dynamics of neocortical responses involved in sensory processing and early change detection in... 
Cerebellum | Friedreich ataxia | Mismatch negativity | Magnetoencephalography | Secondary somatosensory cortex | FIELDS | EEG | BRAIN-STEM | OFF-RESPONSE | NEUROSCIENCES | MEG | CLINICAL NEUROLOGY | CORTICAL NETWORK | MEDIAN NERVE-STIMULATION | CONDUCTION | SOMATOSENSORY-EVOKED POTENTIALS | Brain | Ataxia | Neurosciences | Cognition | Analysis
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 12/2009, Volume 67, Issue 4, pp. 1143 - 1156
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics.... 
ataxia de Friedreich | cerebellar ataxia | cerebelo | ataxias autossômicas recessivas | Friedreich ataxia | autosomal recessive ataxias | ataxia cerebelar | cerebellum
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 03/1999, Volume 57, Issue 1, pp. 1 - 5
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in 94% of cases by homozygous expansions of an unstable GAA repeat localised in... 
expansão instável de trinucleotídeos | ataxia de Friedreich | cerebellar ataxia | Friedreich ataxia | ataxia cerebelar | expansion of unstable repeats
Journal Article
NATURE REVIEWS NEUROLOGY, ISSN 1759-4758, 04/2015, Volume 11, Issue 4, pp. 188 - 189
Journal Article
REVISTA DE NEUROLOGIA, ISSN 0210-0010, 01/2005, Volume 40, Issue 2, pp. 78 - 80
Journal Article
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