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1. Full Text Friedreich Ataxia: Neuropathology Revised
by Koeppen, Arnulf H and Mazurkiewicz, Joseph E
Journal of neuropathology and experimental neurology, ISSN 0022-3069, 02/2013, Volume 72, Issue 2, pp. 78 - 90
Spinal cord | Frataxin | Friedreich ataxia | Iron | Dorsal root ganglion | Dentate nucleus | Sural nerve | Pathology | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Friedreich Ataxia - pathology | Humans | Atrophy - pathology | Ganglia, Spinal - pathology | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | GABAergic Neurons - pathology | Atrophy - etiology | Cerebellar Nuclei - pathology | Iron-Binding Proteins - metabolism | Pyramidal Tracts - pathology | Friedreich Ataxia - genetics | Proteins | Heart | Genotype & phenotype | Pathogenesis | Ataxia | Mutation | Alliances | Genetic testing | Gene expression | Patients | Deoxyribonucleic acid--DNA | Index Medicus
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2. Full Text The Autosomal Recessive Cerebellar Ataxias
by Anheim, Mathieu and Tranchant, Christine and Koenig, Michel
The New England journal of medicine, ISSN 0028-4793, 02/2012, Volume 366, Issue 7, pp. 636 - 646
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Ataxia Telangiectasia - diagnosis | Ataxia Telangiectasia - therapy | Cerebellar Ataxia - genetics | Cerebellar Ataxia - therapy | Humans | Friedreich Ataxia - diagnosis | Friedreich Ataxia - therapy | Ataxia Telangiectasia - genetics | Biomarkers - blood | Cerebellar Ataxia - diagnosis | Genes, Recessive | Friedreich Ataxia - genetics | Usage | Care and treatment | Cerebellar ataxia | Causes of | Nervous system | Genetic aspects | Neurologic examination | Degeneration | Diagnosis | Genetic screening | Methods | Cerebellum | Nuclear magnetic resonance--NMR | Gait | Disease | Neurodegenerative diseases | Cardiomyopathy | Metabolism | Patients | Atrophy | Proteins | Signs | Ataxia | Age | Index Medicus | Abridged Index Medicus
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3. Full Text Mortality in Friedreich Ataxia
by Tsou, Amy Y and Paulsen, Erin K and Lagedrost, Sarah J and Perlman, Susan L and Mathews, Katherine D and Wilmot, George R and Ravina, Bernard and Koeppen, Arnulf H and Lynch, David R
Journal of the neurological sciences, ISSN 0022-510X, 2011, Volume 307, Issue 1, pp. 46 - 49
Neurology | Cerebellum | Echocardiogram | Neurodegenerative disease | Arrhythmia | Cardiomyopathy | Sensory | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Arrhythmias, Cardiac - mortality | Humans | Middle Aged | Male | Case-Control Studies | Friedreich Ataxia - genetics | Young Adult | Aged, 80 and over | Adult | Cardiomyopathy, Dilated - diagnosis | Female | Friedreich Ataxia - mortality | Heart Failure - diagnosis | Retrospective Studies | Arrhythmias, Cardiac - genetics | Cardiomyopathy, Dilated - mortality | Heart Failure - mortality | Cardiomyopathy, Dilated - genetics | Comorbidity | Heart Failure - genetics | Heart Diseases - diagnosis | Heart Diseases - mortality | Adolescent | Aged | Arrhythmias, Cardiac - diagnosis | Heart Diseases - genetics | Cohort Studies | Ataxia | Health aspects | Mortality | Index Medicus
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4. Full Text Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study
by Reetz, Kathrin, MD and Dogan, Imis, PhD and Hilgers, Ralf-Dieter, Prof and Giunti, Paola, MD and Mariotti, Caterina, MD and Durr, Alexandra, MD and Boesch, Sylvia, MD and Klopstock, Thomas, MD and de Rivera, Francisco Javier Rodriguez, MD and Schöls, Ludger, Prof and Klockgether, Thomas, Prof and Bürk, Katrin, MD and Rai, Myriam, PhD and Pandolfo, Massimo, Prof and Schulz, Jörg B, Prof and EFACTS Study Group and EFACTS Study Grp
Lancet neurology, ISSN 1474-4422, 2016, Volume 15, Issue 13, pp. 1346 - 1354
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | Prognosis | Outcome Assessment (Health Care) | Europe | Humans | Middle Aged | Friedreich Ataxia - diagnosis | Male | Disease Progression | Friedreich Ataxia - genetics | Activities of Daily Living | Friedreich Ataxia - physiopathology | Age of Onset | Adult | Female | Registries | Cohort Studies | Ataxia | Development and progression | Nervous system diseases | Neurosciences | Analysis | Studies | Consortia | Activities of daily living | Cardiomyopathy | Clinical trials | Inventory | Quality of life | Index Medicus
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5. Full Text Idebenone in Friedreich ataxia cardiomyopathy—results from a 6-month phase III study (IONIA)
by Lagedrost, Sarah J., BA and Sutton, Martin St. John, MBBS and Cohen, Meryl S., MD and Satou, Gary M., MD and Kaufman, Beth D., MD and Perlman, Susan L., MD and Rummey, Christian, PhD and Meier, Thomas, PhD and Lynch, David R., MD, PhD
The American heart journal, ISSN 0002-8703, 2011, Volume 161, Issue 3, pp. 639 - 645.e1
Cardiovascular | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Neurology | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Myocarditis. Cardiomyopathies | Medical sciences | Nervous system (semeiology, syndromes) | Humans | Male | Cardiomyopathy, Hypertrophic - complications | Cardiomyopathy, Hypertrophic - drug therapy | Ubiquinone - pharmacology | Friedreich Ataxia - physiopathology | Clinical Trials, Phase III as Topic | Echocardiography, Doppler | Electrocardiography | Ubiquinone - therapeutic use | Female | Friedreich Ataxia - complications | Hypertrophy, Left Ventricular - drug therapy | Cardiomyopathy, Hypertrophic - diagnostic imaging | Child | Ventricular Function - drug effects | Ubiquinone - administration & dosage | Friedreich Ataxia - drug therapy | Double-Blind Method | Ubiquinone - analogs & derivatives | Antioxidants - pharmacology | Antioxidants - therapeutic use | Cardiomyopathy, Hypertrophic - physiopathology | Adolescent | Antioxidants - administration & dosage | Cardiomyopathy | Ataxia | Heart diseases | Pediatrics | Colleges & universities | Patients | Age | Index Medicus | Abridged Index Medicus
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6. Full Text Friedreich ataxia: The clinical picture
by Pandolfo, Massimo
Journal of neurology, ISSN 0340-5354, 3/2009, Volume 256, Issue S1, pp. 3 - 8
Neurosciences | inherited ataxia | muscle weakness | gene silencing | sensory loss | Neuroradiology | dysarthria | Neurology | Medicine & Public Health | frataxin gene mutation | hypertrophic cardiomyopathy | gait instability | pyramidal tract degeneration | Gene silencing | Muscle weakness | Inherited ataxia | Hypertrophic cardiomyopathy | Frataxin gene mutation | Sensory loss | Dysarthria | Pyramidal tract degeneration | Gait instability | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Friedreich Ataxia - epidemiology | Animals | Humans | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | Friedreich Ataxia - complications | Mutation | Friedreich Ataxia - genetics | Cellular proteins | Friedreich's ataxia | Gene mutations | Genetic aspects | Research | Diagnosis | Health aspects | Risk factors | Index Medicus
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7. Full Text Epigenetic therapy for Friedreich ataxia
by Soragni, Elisabetta and Miao, Wenyan and Iudicello, Marco and Jacoby, David and De Mercanti, Stefania and Clerico, Marinella and Longo, Filomena and Piga, Antonio and Ku, Sherman and Campau, Erica and Du, Jintang and Penalver, Pablo and Rai, Myriam and Madara, Joseph C and Nazor, Kristopher and O'Connor, Melinda and Maximov, Anton and Loring, Jeanne F and Pandolfo, Massimo and Durelli, Luca and Gottesfeld, Joel M and Rusche, James R
Annals of neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 489 - 508
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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
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8. Full Text Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
by Koeppen, Arnulf H
Journal of the neurological sciences, ISSN 0022-510X, 2011, Volume 303, Issue 1, pp. 1 - 12
Neurology | Friedreich's ataxia | Frataxin | Transcription | Cardiomyopathy | GAA trinucleotide repeats | Iron | Dorsal root ganglion | Dentate nucleus | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Spinal Cord - metabolism | History, 21st Century | Friedreich Ataxia - pathology | Humans | Middle Aged | Child, Preschool | Infant | Male | Friedreich Ataxia - genetics | Young Adult | Spinal Cord - pathology | Adult | Female | Friedreich Ataxia - etiology | Child | Disease Models, Animal | History, 20th Century | Animals | Friedreich Ataxia - history | Adolescent | Age of Onset | History, 19th Century | Iron-Binding Proteins - genetics | Aged | Mice | Index Medicus | Friedreich’s ataxia
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9. Full Text Diabetes in Friedreich Ataxia
by Cnop, Miriam and Mulder, Hindrik and Igoillo‐Esteve, Mariana
Journal of neurochemistry, ISSN 0022-3042, 08/2013, Volume 126, Issue 1, pp. 94 - 102
apoptosis | pancreatic beta cell | Friedreich ataxia | insulin | diabetes | insulin resistance | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Diabetes Mellitus - pathology | Insulin - physiology | Friedreich Ataxia - pathology | Humans | Pancreas - pathology | Risk | Mitochondria - metabolism | Iron-Binding Proteins - metabolism | Neurodegenerative Diseases - complications | Insulin-Secreting Cells - metabolism | Animals | Diabetes Mellitus - etiology | Friedreich Ataxia - complications | Insulin-Secreting Cells - pathology | Cell Survival - physiology | Disease Models, Animal | Cytochrome c | Insulin resistance | Ataxia | Pancreatic beta cells | Mitochondrial DNA | Diabetes | Mitochondria | Apoptosis | Index Medicus | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Neurovetenskaper
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