Friedreich Ataxia

Friedreich\'s ataxia presenting as cardiac disease

Pediatric Cardiology / Echocardiography / Humans / Child / Hemodynamics / Male / Differential Diagnosis / Left ventricular hypertrophy / Hypertrophic Cardiomyopathy / Chest Pain / Cardiac Disease / Friedreich Ataxia / Male / Differential Diagnosis / Left ventricular hypertrophy / Hypertrophic Cardiomyopathy / Chest Pain / Cardiac Disease / Friedreich Ataxia

Echocardiographic Features of Genetic Diseases: Part 6. Complex Cardiovascular Defects

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

Echocardiographic features of genetic diseases: Part 1. Cardiomyopathy

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

Echocardiographic Features of Genetic Diseases: Part 4. Connective Tissue

Genetics / Adolescent / Williams Syndrome / Down Syndrome / Echocardiography / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases / Spleen / Congenital Heart Defects / Humans / Child / Female / Inborn errors of metabolism / Connective tissue / Marfan syndrome / Differential Diagnosis / Pheochromocytoma / Hemochromatosis / Fabry Disease / Aged / L-carnitine / Adult / Tuberous sclerosis / Genetic Disorder / Neoplasms / Ehlers-Danlos Syndrome / Reproducibility of Results / Noonan syndrome / Cardiomyopathies / Pericardium / Hypertrophic Cardiomyopathy / Aorta / Turner Syndrome / Gaucher Disease / Friedreich Ataxia / Myxoma / Heart Diseases

Friedreich ataxia: the oxidative stress paradox

RNA / Oxidative Stress / Mitochondria / Manganese / Biological Sciences / Mice / Animals / Cell Death / Human Molecular Genetics / Iron / Neurons / Superoxide Dismutase / Iron Overload / Microarray Analysis / Oxidative Damage / Neurodegenerative Disease / Cardiomyopathies / Oxidation-Reduction / Friedreich Ataxia / Gene expression profiling / Mice / Animals / Cell Death / Human Molecular Genetics / Iron / Neurons / Superoxide Dismutase / Iron Overload / Microarray Analysis / Oxidative Damage / Neurodegenerative Disease / Cardiomyopathies / Oxidation-Reduction / Friedreich Ataxia / Gene expression profiling

Frataxin is essential for extramitochondrial Fe S cluster proteins in mammalian tissues

Mitochondria / Biological Sciences / Mutation / Mice / Animals / Human Molecular Genetics / Iron / Subcellular Localization / Sulfur / Friedreich Ataxia / Iron binding proteins / Human Molecular Genetics / Iron / Subcellular Localization / Sulfur / Friedreich Ataxia / Iron binding proteins

Friedreich\'s Ataxia: a review from a cardiology perspective

Cardiology / Quality of life / Heart Failure / Sudden Death / Humans / Cardiac Arrhythmias / Literature Search / Hypertrophic Cardiomyopathy / Chest Pain / General Population / Friedreich Ataxia / Cardiac Arrhythmias / Literature Search / Hypertrophic Cardiomyopathy / Chest Pain / General Population / Friedreich Ataxia

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