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1. Full Text Ataxia
by Burke, Georgina|Hammans, Simon
Medicine, ISSN 1357-3039, 2012, Volume 40, Issue 8, pp. 435 - 439
Abstract Ataxia is derived from a Greek word meaning ‘lack of order’ and can be defined as impairment of coordination in the absence of significant muscle... 
Internal Medicine | ataxia | multiple sclerosis | paraneoplastic | proprioception | spinocerebellar ataxia | cerebellum | Creutzfeldt–Jakob disease | Friedreich's | Creutzfeldt-Jakob disease
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2. Full Text Mortality in Friedreich Ataxia
by Tsou, Amy Y.|Paulsen, Erin K.|Lagedrost, Sarah J.|Perlman, Susan L.|Mathews, Katherine D.|Wilmot, George R.|Ravina, Bernard|Koeppen, Arnulf H.|Lynch, David R
Journal of the Neurological Sciences, ISSN 0022-510X, 2011, Volume 307, Issue 1, pp. 46 - 49
Abstract Background Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have... 
Neurology | Cerebellum | Echocardiogram | Neurodegenerative disease | Arrhythmia | Cardiomyopathy | Sensory | SURVIVAL | DISEASE | NEUROSCIENCES | ONSET | CLINICAL NEUROLOGY | FEATURES | 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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3. Full Text Ataxia de Friedreich
National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison
2000, NIH publication, Volume no. 00-97.
Friedreich's ataxia | Spinal cord | United States | Diseases
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4. Friedreich's ataxia fact sheet
National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, issuing body
2011, Last updated August 16, 2011., NIH publication, Volume no. 10-87
Friedreich's ataxia
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5. 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
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
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6. Full Text Ataxias
by Klockgether, Thomas
Parkinsonism and Related Disorders, ISSN 1353-8020, 2007, Volume 13, Issue 3, pp. S391 - S394
Abstract The ataxias are a group of progressive neurodegenerative disorders with ataxia as the leading symptom. Current classifications distinguish between... 
Neurology | Friedreich's ataxia (FRDA) | Spinocerebellar ataxia (SCA) | Alcoholic cerebellar degeneration | Paraneoplastic cerebellar degeneration (PCD) | paraneoplastic cerebellar degeneration (PCD) | spinocerebellar ataxia (SCA) | alcoholic cerebellar degeneration | GENE | FRIEDREICHS-ATAXIA | DISEASE | FOLLOW-UP | MUTATIONS | CLINICAL NEUROLOGY
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7. 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, ISSN 0006-8950, 03/2003, Volume 126, Issue 3, pp. 685 - 691
We previously have described a group of patients with gluten sensitivity presenting with ataxia (gluten ataxia) and suggested that this disease entity may... 
Gluten sensitivity | Gluten ataxia | Prevalence | Coeliac disease | gluten ataxia | PATHOGENESIS | prevalence | coeliac disease | DIAGNOSIS | gluten sensitivity | SENSITIVITY | IDIOPATHIC CEREBELLAR-ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | CELIAC-DISEASE | 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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8. Full Text Delayed‐onset Friedreich's ataxia revisited
by Lecocq, Claire and Charles, Perrine and Azulay, Jean‐Philippe and Meissner, Wassilios and Rai, Myriam and N'Guyen, Karine and Péréon, Yann and Fabre, Nelly and Robin, Elsa and Courtois, Sylvie and Guyant‐Maréchal, Lucie and Zagnoli, Fabien and Rudolf, Gabrielle and Renaud, Mathilde and Sévin‐Allouet, Mathieu and Lesne, Fabien and Alaerts, Nick and Goizet, Cyril and Calvas, Patrick and Eusebio, Alexandre and Guissart, Claire and Derkinderen, Pascal and Tison, Francois and Brice, Alexis and Koenig, Michel and Pandolfo, Massimo and Tranchant, Christine and Dürr, Alexandra and Anheim, Mathieu
Movement Disorders, ISSN 0885-3185, 01/2016, Volume 31, Issue 1, pp. 62 - 69
BackgroundFriedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and... 
Friedreich's ataxia | genetics | peripheral neuropathy | imaging | corticospinal tract | Genetics | Corticospinal tract | Peripheral neuropathy | Imaging | TENDON REFLEXES | MOLECULAR-GENETICS | GAA TRIPLET REPEAT | CLINICAL-FEATURES | CLINICAL NEUROLOGY | POINT MUTATIONS | SPASTIC ATAXIA | CEREBELLAR-ATAXIA | EXPANSION | DISEASE | AGE | Glycated Hemoglobin A - metabolism | Humans | Middle Aged | Male | Trinucleotide Repeats - genetics | Cardiomyopathies - etiology | Friedreich Ataxia - genetics | Young Adult | Friedreich Ataxia - physiopathology | Cardiomyopathies - diagnosis | Statistics, Nonparametric | Electrocardiography | Adult | Female | Retrospective Studies | Child | Severity of Illness Index | Friedreich Ataxia - diagnosis | Kaplan-Meier Estimate | Genotype | International Cooperation | Magnetic Resonance Imaging | Phenotype | Image Processing, Computer-Assisted | Adolescent | Age of Onset | Friedreich Ataxia - blood | Aged | Ataxia | Development and progression | Rodents | Age | Index Medicus | Life Sciences | Human health and pathology | Neurons and Cognition
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9. Full Text Idebenone in Friedreich ataxia cardiomyopathy—results from a 6-month phase III study (IONIA)
by Lagedrost, Sarah J., BA|Sutton, Martin St. John, MBBS|Cohen, Meryl S., MD|Satou, Gary M., MD|Kaufman, Beth D., MD|Perlman, Susan L., MD|Rummey, Christian, PhD|Meier, Thomas, PhD|Lynch, David R., MD, PhD
American Heart Journal, ISSN 0002-8703, 2011, Volume 161, Issue 3, pp. 639 - 645.e1
Background Friedreich ataxia (FRDA) is commonly associated with hypertrophic cardiomyopathy, but little is known about its frequency, severity, or treatment.... 
Cardiovascular | HYPERTROPHY | FRATAXIN | CARDIAC & CARDIOVASCULAR SYSTEMS | QUANTIFICATION | ADULTS | IRON | PLACEBO-CONTROLLED TRIAL | LEFT-VENTRICULAR MASS | ECHOCARDIOGRAPHY | CHILDREN | 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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10. Handbook of ataxia disorders
by Klockgether, Thomas
2000, Neurological disease and therapy, ISBN 9780824703813, Volume 50., xv, 689
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11. Ataxia de Friedreich
and National Institutes of Health (U.S.)National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison
2009, Rev. Dec. 18, 2009., Publicación de NIH, Volume 7-87s
Friedreich's ataxia | Spinal cord | Diseases
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12. Ataxia de Friedreich
and National Institutes of Health (U.S.)National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison
2009, Rev. Dec. 18, 2009., Publicación de NIH, Volume 7-87s
Friedreich's ataxia | Spinal cord | Diseases
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13. The inherited ataxias
by Giunti, Paola
2014, The genetic basis of neurological disorders
Genetic disorders | genetics | Epigenesis, Genetic | Spinocerebellar Ataxias | Ataxia | Genetic aspects | Cerebellar Ataxia | Friedreich Ataxia
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14. Full Text Cerebellar ataxia and intrathecal baclofen therapy: Focus on patients' experiences
by Berntsson, Shala Ghaderi and Landtblom, Anne-Marie and Flensner, Gullvi and Avdelningen för neuro- och inflammationsvetenskap and Medicinska fakulteten and Region Östergötland and Närsjukvården i centrala Östergötland and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Neurologiska kliniken
PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0180054 - e0180054
Elucidating patients A experiences of living with chronic progressive hereditary ataxia and the symptomatic treatment with intrathecal baclofen (ITB) is the... 
INDIVIDUALS | DEPRESSION | DISEASES | MULTIPLE-SCLEROSIS | MULTIDISCIPLINARY SCIENCES | DISABILITY | CLINICAL-FEATURES | HEALTH | CEREBRAL-PALSY | FRIEDREICH ATAXIA | RESOURCE | Injections, Spinal | Muscle Relaxants, Central - administration & dosage | Baclofen - administration & dosage | Humans | Middle Aged | Male | Activities of Daily Living | Quality of Life | Female | Aged | Cerebellar Ataxia - drug therapy | Qualitative Research | Muscle Relaxants, Central - therapeutic use | Baclofen - therapeutic use | Treatment outcome | Cerebellar ataxia | Analysis | Baclofen | Dosage and administration | Patient satisfaction | Drug therapy | Cerebellum | Therapy | Neurosciences | Uncertainty | Multiple sclerosis | Epilepsy | Mental depression | Pain | Employment | Sociology | Ataxia | Chronic illnesses | Content analysis | Qualitative research | Categories | Patients | Quality of life | Studies | Neurology | Hospitals | Sleep | Nursing | Rehabilitation | Index Medicus | Hälsovetenskaper | Omvårdnad | Medical and Health Sciences | Medicin och hälsovetenskap | Health Sciences
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15. Full Text Ataxia
by Burke, Georgina|Hammans, Simon
Medicine, ISSN 1357-3039, 2008, Volume 36, Issue 10, pp. 540 - 544
Abstract Ataxia is derived from a Greek word meaning ‘lack of order’ and can be defined as impairment of co-ordination in the absence of significant muscle... 
Internal Medicine | Friedreich’s | ataxia | multiple sclerosis | paraneoplastic | proprioception | spinocerebellar ataxia | cerebellum | Creutzfeldt–Jakob disease | Creutzfeldt-Jakob disease | Friedreich's
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16. Full Text Dysphagia in Friedreich Ataxia
by Keage, Megan J and Delatycki, Martin B and Gupta, Isabelle and Corben, Louise A and Vogel, Adam P
Dysphagia, ISSN 0179-051X, 10/2017, Volume 32, Issue 5, pp. 626 - 635
The objective of the study was to comprehensively characterise dysphagia in Friedreich ataxia (FRDA) and identify predictors of penetration/aspiration during... 
Gait disorders/ataxia | Videofluoroscopy | Medicine & Public Health | Hepatology | Gastroenterology | Otorhinolaryngology | Imaging / Radiology | Swallowing | Trinucleotide repeat diseases | Quality of life | MOLECULAR-GENETICS | PENETRATION-ASPIRATION SCALE | MANAGEMENT | INTERRATER RELIABILITY | ADULTS | PATHOLOGY | SPEECH | PATHOGENESIS | OTORHINOLARYNGOLOGY | Deglutition | Humans | Quality of Life | Adult | Deglutition Disorders - etiology | Female | Male | Surveys and Questionnaires | Friedreich Ataxia - complications | Deglutition Disorders - psychology | Friedreich Ataxia - psychology | Friedreich's ataxia | Complications and side effects | Care and treatment | Diagnosis | Deglutition disorders | Risk factors | Respiratory tract | Tongue | Reviews | Ataxia | Dysphagia | Cough | Index Medicus
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17. Full Text The heart in Friedreich ataxia: Definition of cardiomyopathy, disease severity, and correlation with neurological symptoms
by Weidemann, Frank and Rummey, Christian and Bijnens, Bart and Störk, Stefan and Jasaityte, Ruta and Dhooge, Jan and Baltabaeva, Aigul and Sutherland, George and Schulz, Jörg B and Meier, Thomas and Mitochondrial Protection Idebenone and Mitochondrial Protection with Idebenone in Cardiac or Neurological Outcome (MICONOS) study group
Circulation, ISSN 0009-7322, 04/2012, Volume 125, Issue 13, pp. 1626 - 1634
Background-This cross-sectional study provides a practical approach for the clinical assessment of Friedreich ataxia (FA) cardiomyopathy (FA-CM). Methods and... 
Disease severity | Hypertrophic cardiomyopathy | Friedreich ataxia | Imaging | CARDIAC & CARDIOVASCULAR SYSTEMS | PERIPHERAL VASCULAR DISEASE | hypertrophic cardiomyopathy | RATING-SCALE | HEMATOLOGY | disease severity | imaging | Heart - physiopathology | Severity of Illness Index | Cross-Sectional Studies | Friedreich Ataxia - pathology | Humans | Middle Aged | Friedreich Ataxia - diagnosis | Cardiomyopathies - pathology | Male | Nervous System Diseases - diagnosis | Young Adult | Friedreich Ataxia - physiopathology | Cardiomyopathies - physiopathology | Adolescent | Cardiomyopathies - diagnosis | Adult | Female | Aged | Nervous System Diseases - physiopathology | Child | Nervous System Diseases - pathology | Index Medicus | Abridged Index Medicus
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18. Full Text Central role and mechanisms of β‐cell dysfunction and death in friedreich ataxia–associated diabetes
by Cnop, Miriam and Igoillo‐Esteve, Mariana and Rai, Myriam and Begu, Audrey and Serroukh, Yasmina and Depondt, Chantal and Musuaya, Anyishai E and Marhfour, Ihsane and Ladrière, Laurence and Moles Lopez, Xavier and Lefkaditis, Dionysios and Moore, Fabrice and Brion, Jean‐Pierre and Cooper, J. Mark and Schapira, Anthony H. V and Clark, Anne and Koeppen, Arnulf H and Marchetti, Piero and Pandolfo, Massimo and Eizirik, Décio L and Féry, Françoise
Annals of Neurology, ISSN 0364-5134, 12/2012, Volume 72, Issue 6, pp. 971 - 982
Objective: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused in almost all cases by homozygosity for a GAA trinucleotide... 
SUBSTRATE OXIDATION | ENERGY-EXPENDITURE | FRATAXIN DEFICIENCY | GAA REPEAT | INSULIN-RESISTANCE | GLUCOSE-INTOLERANCE | IN-VIVO | 1ST-DEGREE RELATIVES | MITOCHONDRIAL DYSFUNCTION | ENDOPLASMIC-RETICULUM STRESS | NEUROSCIENCES | CLINICAL NEUROLOGY | Diabetes Mellitus - pathology | Humans | Middle Aged | Family Health | Male | Friedreich Ataxia - genetics | Adipose Tissue - metabolism | Flow Cytometry | Adult | Diabetes Mellitus - etiology | Female | Body Fat Distribution | Friedreich Ataxia - complications | Energy Metabolism - genetics | Insulin-Secreting Cells - physiology | Insulin - pharmacology | Glucose Tolerance Test | Rats | Linear Models | Hypoglycemic Agents - pharmacology | Animals | Insulin-Secreting Cells - drug effects | Insulin Resistance - genetics | Trinucleotide Repeat Expansion - genetics | Iron-Binding Proteins - genetics | Insulin-Secreting Cells - pathology | Index Medicus
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19. Full Text Friedreich Ataxia
: New Pathways
by Pandolfo, Massimo
Journal of Child Neurology, ISSN 0883-0738, 9/2012, Volume 27, Issue 9, pp. 1204 - 1211
Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical... 
Friedreich ataxia | induced pluripotent stem cells | iron-sulfur cluster | metabolic pathways | OXIDATIVE STRESS | REPEAT EXPANSION | PROTEIN | HUMAN FRATAXIN | MITOCHONDRIAL | CLUSTER BIOSYNTHESIS | YEAST FRATAXIN | MOUSE MODELS | CLINICAL NEUROLOGY | IRON ACCUMULATION | PEDIATRICS | EXPRESSION | Index Medicus | Antioxidants | Friedreich's ataxia | Mitochondria | Heredity | Iron | Metabolism | frataxin
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