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Journal of the neurological sciences, ISSN 0022-510X, 4/2011, Volume 303, Issue 1-2, pp. 1 - 12
The pathogenic mutation in Friedreich’s ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that... 
Friedreich’s ataxia | Frataxin | Transcription | Cardiomyopathy | GAA trinucleotide repeats | Iron | Dorsal root ganglion | Dentate nucleus
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 489 - 508
Objective: To investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the neurodegenerative disease Friedreich... 
PLURIPOTENT STEM-CELLS | THERAPEUTICS | TRIPLET-REPEAT EXPANSION | FRATAXIN | GENE | CONTRACTION | NICOTINAMIDE | TRANSCRIPTION | DIFFERENTIATION | HISTONE DEACETYLASE INHIBITORS | NEUROSCIENCES | CLINICAL NEUROLOGY | Leukocytes, Mononuclear - metabolism | Area Under Curve | Friedreich Ataxia - pathology | Humans | Middle Aged | Male | Friedreich Ataxia - genetics | Dose-Response Relationship, Drug | Young Adult | Cell Differentiation - genetics | Benzamides - therapeutic use | Pluripotent Stem Cells | Chromatin Immunoprecipitation | Adult | Female | Benzamides - pharmacology | Aminocaproates - therapeutic use | Neurons - drug effects | Membrane Potentials - drug effects | Friedreich Ataxia - drug therapy | Leukocytes, Mononuclear - drug effects | Cross-Sectional Studies | Double-Blind Method | Administration, Oral | Gene Expression Regulation - genetics | Aminocaproates - pharmacology | DNA Methylation - genetics | Membrane Potentials - physiology | Nerve Tissue Proteins - genetics | Gene Expression Regulation - drug effects | Nerve Tissue Proteins - metabolism | Cell Differentiation - drug effects | Adolescent | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | Histone Deacetylase Inhibitors - therapeutic use | DNA Methylation - drug effects | Cell Line, Transformed | Cohort Studies | Epigenetics | Ataxia | Chromatin | Gene expression | Index Medicus
Journal Article
Nature medicine, ISSN 1078-8956, 2014, Volume 20, Issue 5, pp. 542 - 547
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Journal of Neuropathology and Experimental Neurology, ISSN 0022-3069, 2017, Volume 76, Issue 2, pp. 101 - 108
After Friedreich's description in 1877, depletion of myelinated fibers in the dorsal columns, dorsal spinocerebellar and lateral corticospinal tracts, and... 
Atrophy | Hypoplasia | Spinal cord | Friedreich ataxia | Dorsal root ganglion | Dorsal roots | COLUMN | NEURONS | PATHOLOGY | NEURAL CREST | NEUROSCIENCES | CLINICAL NEUROLOGY | Friedreich Ataxia - pathology | Humans | Middle Aged | Male | Young Adult | Spinal Cord - pathology | Adolescent | Ganglia, Spinal - pathology | Aged, 80 and over | Adult | Female | Aged | Child | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, pp. e0116396 - e0116396
Friedreich ataxia (FA) is an autosomal recessive disease with a complex neurological phenotype, but the most common cause of death is heart failure. This study... 
HYPERTROPHY | HEARTS | MITOCHONDRIAL FERRITIN | INFLAMMATION | MULTIDISCIPLINARY SCIENCES | DISEASE | LIVER | HEPCIDIN | IRON | ATHEROSCLEROTIC PLAQUE | LIFE | Hepcidins - metabolism | Friedreich Ataxia - metabolism | Mitochondria, Heart - metabolism | Friedreich Ataxia - pathology | Humans | Middle Aged | Male | Iron - metabolism | Case-Control Studies | Young Adult | Ferritins - metabolism | Myocardium - metabolism | Adolescent | Myocarditis - metabolism | Adult | Female | Aged | Heart Ventricles - pathology | Care and treatment | Usage | Cardiomyopathy | Patient outcomes | Ataxia | Genetic aspects | Research | Diagnosis | X-ray spectroscopy | Heart diseases | Immunohistochemistry | Heart | Health sciences | Neurosciences | Transcription | Veterans | Personal health | Pathogenesis | X ray fluorescence | Ferritin | Fluorescence | Iron | Macrophages | Tissues | Accumulation | Spectrometry | Mitochondria | Frataxin | Autopsy | Polyethylene glycol | Failure analysis | Bioindicators | Localization | Deoxyribonucleic acid--DNA | Polyethylene | Autopsies | Antiinflammatory agents | Environmental health | Septum | Cardiomyocytes | Inflammation | Patients | Zinc | Myocarditis | Pathology | Friedreich's ataxia | Inductively coupled plasma | X-ray fluorescence | Fibrosis | Weight reduction | Ventricle | Immunofluorescence | Hepcidin | Histochemistry | Hypertrophy | Index Medicus | Deoxyribonucleic acid | DNA
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