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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 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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3. 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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4. Full Text Cardiomyopathy of Friedreich Ataxia
by Weidemann, Frank and Störk, Stefan and Liu, Dan and Hu, Kai and Herrmann, Sebastian and Ertl, Georg and Niemann, Markus
Journal of neurochemistry, ISSN 0022-3042, 08/2013, Volume 126, Issue 1, pp. 88 - 93
hypertrophy | typical features | echocardiography | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cardiomyopathies - diagnostic imaging | Diagnosis, Differential | Friedreich Ataxia - pathology | Humans | Hypertrophy, Left Ventricular - etiology | Friedreich Ataxia - diagnosis | Hypertrophy, Left Ventricular - diagnosis | Cardiomyopathies - pathology | Cardiomyopathies - etiology | Cardiomyopathies - therapy | Magnetic Resonance Imaging | Hypertrophy, Left Ventricular - pathology | Cardiomyopathies - diagnosis | Ultrasonography | Electrocardiography | Friedreich Ataxia - complications | Hypertrophy, Left Ventricular - diagnostic imaging | Cardiomyopathy | Ataxia | Heart diseases | Cardiomyocytes | Mitochondria | Genetic disorders | Neuropathology | Index Medicus
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5. Full Text Cerebral abnormalities in Friedreich ataxia: A review
by Selvadurai, Louisa P and Harding, Ian H and Corben, Louise A and Georgiou-Karistianis, Nellie
Neuroscience and biobehavioral reviews, ISSN 0149-7634, 01/2018, Volume 84, pp. 394 - 406
Neurodegenerative disorder | Neuroimaging | Spino-cerebellar ataxia | Cerebrum | Cerebro-cerebellar connectivity | Magnetic resonance imaging (MRI) | Friedreich ataxia | Functional magnetic resonance imaging (fMRI) | Diffusion tensor imaging (DTI) | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Behavioral Sciences | Science & Technology | Neuroimaging - methods | Friedreich Ataxia - pathology | Humans | Cerebral Cortex - pathology | Cerebellum - physiopathology | Cerebellum - pathology | Cerebral Cortex - physiopathology | White Matter - pathology | Friedreich Ataxia - physiopathology | Spinal Cord - pathology | Gray Matter - physiopathology | Models, Neurological | Neural Pathways - physiopathology | Ataxia | Nervous system diseases | Index Medicus
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6. Full Text Gluten ataxia in perspective: Epidemiology, genetic susceptibility and clinical characteristics
by Hadjivassiliou, Marios and Grünewald, Richard and Sharrack, Basil and Sanders, David and Lobo, Alan and Williamson, Clare and Woodroofe, Nicola and Wood, Nicholas and Davies-Jones, Aelwyn
Brain (London, England : 1878), ISSN 0006-8950, 03/2003, Volume 126, Issue 3, pp. 685 - 691
Gluten sensitivity | Gluten ataxia | Prevalence | Coeliac disease | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Gastroenterology. Liver. Pancreas. Abdomen | Neurology | Liver. Biliary tract. Portal circulation. Exocrine pancreas | Biological and medical sciences | Nervous system as a whole | Medical sciences | Other diseases. Semiology | Nervous system (semeiology, syndromes) | Friedreich Ataxia - pathology | Humans | Middle Aged | Gait Ataxia - immunology | Male | Case-Control Studies | Cerebellar Ataxia - immunology | HLA-DQ Antigens - analysis | Celiac Disease - immunology | Gait Ataxia - complications | Antibodies - analysis | Aged, 80 and over | Celiac Disease - complications | Adult | Female | Friedreich Ataxia - complications | Ataxia - pathology | Ataxia - immunology | Genetic Predisposition to Disease | Gliadin - immunology | Cerebellar Ataxia - pathology | Cerebellum - pathology | Celiac Disease - pathology | Magnetic Resonance Imaging | Cerebellar Ataxia - complications | Friedreich Ataxia - immunology | Gait Ataxia - pathology | Adolescent | Aged | Ataxia - complications | Index Medicus | Abridged 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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