Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1276) 1276
Book Review (286) 286
Publication (121) 121
Book Chapter (17) 17
Newsletter (5) 5
Conference Proceeding (4) 4
Dissertation (4) 4
Book / eBook (3) 3
Government Document (1) 1
Magazine Article (1) 1
Newspaper Article (1) 1
Streaming Video (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (1080) 1080
humans (1016) 1016
male (492) 492
female (468) 468
adult (420) 420
friedreich ataxia (364) 364
friedreich's ataxia (362) 362
friedreich ataxia - pathology (334) 334
friedreich ataxia - genetics (331) 331
neurosciences (321) 321
ataxia (320) 320
clinical neurology (307) 307
animals (298) 298
middle aged (253) 253
frataxin (240) 240
adolescent (234) 234
oxidative stress (212) 212
friedreichs-ataxia (204) 204
iron-binding proteins - genetics (203) 203
child (175) 175
biochemistry & molecular biology (171) 171
friedreich ataxia - physiopathology (157) 157
mitochondria (151) 151
mutation (151) 151
disease (149) 149
friedreich ataxia - metabolism (148) 148
iron (144) 144
friedreich ataxia - complications (143) 143
mice (141) 141
genetics & heredity (133) 133
neurology (132) 132
friedreich ataxia - diagnosis (130) 130
iron-binding proteins - metabolism (127) 127
pathology (122) 122
iron - metabolism (113) 113
proteins (113) 113
mitochondria - metabolism (112) 112
analysis (111) 111
aged (109) 109
cardiomyopathy (108) 108
abridged index medicus (103) 103
young adult (101) 101
phenotype (100) 100
neurodegeneration (98) 98
article (93) 93
cell biology (93) 93
genetic aspects (92) 92
gene (91) 91
magnetic resonance imaging (91) 91
disease models, animal (89) 89
genetics (89) 89
clinical-features (87) 87
research (86) 86
cerebellum (84) 84
deficiency (82) 82
cerebellum - pathology (80) 80
atrophy (78) 78
gene expression (78) 78
brain (75) 75
medicine (75) 75
research article (74) 74
spinocerebellar ataxia (73) 73
friedreich’s ataxia (68) 68
child, preschool (67) 67
yeast frataxin (67) 67
brain - pathology (66) 66
neurodegenerative diseases (66) 66
health aspects (65) 65
friedreich ataxia - drug therapy (64) 64
nervous system diseases (64) 64
in-vivo (62) 62
cells, cultured (59) 59
diagnosis (59) 59
friedreichs ataxia (59) 59
expression (58) 58
physiological aspects (57) 57
protein (57) 57
genes (56) 56
multidisciplinary sciences (56) 56
parkinsons-disease (56) 56
mitochondrial dna (55) 55
molecular biology (55) 55
case-control studies (53) 53
disease progression (53) 53
medicine, research & experimental (53) 53
severity of illness index (53) 53
triplet-repeat expansion (53) 53
age of onset (52) 52
myocardium - pathology (52) 52
pathogenesis (52) 52
spinal cord - pathology (52) 52
trinucleotide repeat expansion (52) 52
nervous system (51) 51
alzheimers-disease (50) 50
care and treatment (50) 50
diagnosis, differential (50) 50
dna (50) 50
friedreich ataxia - therapy (49) 49
iron accumulation (49) 49
trinucleotide repeat expansion - genetics (49) 49
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1225) 1225
French (25) 25
German (13) 13
Spanish (10) 10
Japanese (9) 9
Russian (8) 8
Italian (6) 6
Polish (2) 2
Norwegian (1) 1
Portuguese (1) 1
Romanian (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Friedreich’s ataxia: Pathology, pathogenesis, and molecular genetics
by Koeppen, Arnulf H
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
Details down arrow
Digital rights down arrow
loading Loading Rights
2. 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia
by Perdomini, Morgane and Perdomini, Morgane and Belbellaa, Brahim and Belbellaa, Brahim and Monassier, Laurent and Monassier, Laurent and Reutenauer, Laurence and Reutenauer, Laurence and Messaddeq, Nadia and Messaddeq, Nadia and Cartier, Nathalie and Cartier, Nathalie and Crystal, Ronald G and Crystal, Ronald G and Aubourg, Patrick and Aubourg, Patrick and Puccio, Hélène and Puccio, Hélène
Nature medicine, ISSN 1078-8956, 2014, Volume 20, Issue 5, pp. 542 - 547
Cardiac failure is the most common cause of mortality in Friedreich's ataxia (FRDA), a mitochondrial disease characterized by neurodegeneration, hypertrophic... 
MEDICINE, RESEARCH & EXPERIMENTAL | HUMAN FRATAXIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | IRON | MATURATION | DEFICIENCY | CELL BIOLOGY | IN-VIVO | CARDIAC-HYPERTROPHY | DISEASE | FE-S PROTEINS | DYSFUNCTION | EXPRESSION | Genetic Therapy | Iron-Binding Proteins - administration & dosage | Gene Expression | Friedreich Ataxia - pathology | Mitochondria, Heart - pathology | Humans | Cardiomyopathies - pathology | Cardiomyopathies - therapy | Friedreich Ataxia - genetics | Cardiomyopathies - genetics | Myocytes, Cardiac - pathology | Animals | Friedreich Ataxia - therapy | Iron-Binding Proteins - genetics | Iron-Sulfur Proteins - biosynthesis | Mice | Genetic Vectors | Mitochondria, Heart - genetics | Disease Models, Animal | Friedreich's ataxia | Usage | Care and treatment | Research | Gene therapy | Analysis | Cardiomyopathy | Mitochondria | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia
by Stefanescu, Maria R and Dohnalek, Moritz and Maderwald, Stefan and Thürling, Markus and Minnerop, Martina and Beck, Andreas and Schlamann, Marc and Diedrichsen, Joern and Ladd, Mark E and Timmann, Dagmar
Brain, ISSN 0006-8950, 05/2015, Volume 138, Issue 5, pp. 1182 - 1197
Spinocerebellar ataxia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia are common hereditary ataxias. Different patterns of atrophy of the... 
Cerebellar atrophy | Dentate nuclei | Functional magnetic resonance imaging | Spinocerebellar degeneration | Structural magnetic resonance imaging | Hereditary ataxia | structural magnetic resonance imaging | IRON | CLINICAL-FEATURES | 7 T | cerebellar atrophy | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | spinocerebellar degeneration | MUTANT MICE | hereditary ataxia | SPINOCEREBELLAR ATAXIA | DENTATE NUCLEUS | SUSCEPTIBILITY MAPPING QSM | MOTOR | dentate nuclei | functional magnetic resonance imaging | FMRI | Friedreich Ataxia - pathology | Humans | Middle Aged | Magnetic Resonance Imaging - methods | Male | Cerebellar Nuclei - pathology | Spinocerebellar Ataxias - pathology | Atrophy | Cerebellar Cortex - pathology | Spinocerebellar Degenerations - pathology | Adult | Female | Aged | Machado-Joseph Disease - pathology | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Friedreich ataxia: Hypoplasia of spinal cord and dorsal root ganglia
by Koeppen, Arnulf H and Becker, Alyssa B and Qian, Jiang and Feustel, Paul J
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
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text The pathogenesis of cardiomyopathy in Friedreich ataxia
by Koeppen, Arnulf H and Ramirez, R. Liane and Becker, Alyssa B and Bjork, Sarah T and Levi, Sonia and Santambrogio, Paolo and Parsons, Patrick J and Kruger, Pamela C and Yang, Karl X and Feustel, Paul J and Mazurkiewicz, Joseph E
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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia
by Becker, Alyssa B and Qian, Jiang and Gelman, Benjamin B and Yang, Michele and Bauer, Peter and Koeppen, Arnulf H
Journal of Neuropatholgy & Experimental Neurology, ISSN 0022-3069, 08/2017, Volume 76, Issue 8, pp. 665 - 675
In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine-adenine-adenine (GAA)... 
Compound heterozygosity | Friedreich ataxia | Frataxin | Dorsal root ganglion | Cardiomyopathy | Dentate nucleus | DORSAL-ROOT GANGLIA | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | DELETION | PATHOGENESIS | CHOREA | GENE | EXPANSION | MUTATIONS | Enzyme-Linked Immunosorbent Assay | Friedreich Ataxia - pathology | Humans | Nervous System - metabolism | Male | Myocardium - pathology | Iron-Binding Proteins - metabolism | Friedreich Ataxia - genetics | Nervous System - pathology | Trinucleotide Repeat Expansion - genetics | Adult | Heterozygote | Iron-Binding Proteins - genetics | Child | Index Medicus | Original
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
by Al-Mahdawi, Sahar and Pinto, Ricardo Mouro and Ismail, Ozama and Varshney, Dhaval and Lymperi, Stefania and Sandi, Chiranjeevi and Trabzuni, Daniah and Pook, Mark
Human Molecular Genetics, ISSN 0964-6906, 3/2008, Volume 17, Issue 5, pp. 735 - 746
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin... 
OXIDATIVE STRESS | IN-VITRO | DNA METHYLATION | HUMAN-CELLS | CPG ISLAND | DEMETHYLATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | FRATAXIN GENE | TRIPLET-REPEAT | FMR1 GENE | Promoter Regions, Genetic | Friedreich Ataxia - pathology | Epigenesis, Genetic | Humans | Gene Silencing | RNA, Messenger - analysis | Mice, Transgenic | Myocardium - pathology | Gene Expression Profiling | Genes, Recessive | Case-Control Studies | Cerebellum - pathology | Friedreich Ataxia - genetics | Homozygote | DNA Methylation | Animals | Chromatin Immunoprecipitation | Brain - pathology | CpG Islands | Trinucleotide Repeat Expansion - genetics | Mice | Acetylation | Histones - metabolism | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Cerebello-cerebral connectivity deficits in Friedreich ataxia
by Zalesky, Andrew and Akhlaghi, Hamed and Corben, Louise A and Bradshaw, John L and Delatycki, Martin B and Storey, Elsdon and Georgiou-Karistianis, Nellie and Egan, Gary F
Brain Structure and Function, ISSN 1863-2653, 5/2014, Volume 219, Issue 3, pp. 969 - 981
Brain pathology in Friedreich ataxia is characterized by progressive degeneration of nervous tissue in the brainstem, cerebellum and cerebellar peduncles.... 
Diffusion-weighted imaging | Neurology | Neurosciences | Biomedicine | Connectivity | Friedreich ataxia | Connectome | White matter | Cell Biology | MATTER | CEREBELLAR | HUMAN BRAIN | MRI | ANATOMY & MORPHOLOGY | NEUROSCIENCES | MOUSE MODELS | VOXEL-BASED MORPHOMETRY | RESTING-STATE NETWORKS | SPATIAL STATISTICS | REGISTRATION | DTI DATA | Friedreich Ataxia - pathology | Humans | Middle Aged | Male | Nerve Net - pathology | Cerebellum - pathology | White Matter - pathology | Young Adult | Magnetic Resonance Imaging | Image Processing, Computer-Assisted | Brain Stem - pathology | Gyrus Cinguli - pathology | Adult | Female | Ataxia | Medical genetics | Brain | Pathology | Anatomy & physiology | Neurodegeneration | Neurological disorders | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in friedreich ataxia induced pluripotent stem cells
by Du, Jintang and Campau, Erica and Soragni, Elisabetta and Ku, Sherman and Puckett, James W and Dervan, Peter B and Gottesfeld, Joel M
Journal of Biological Chemistry, ISSN 0021-9258, 08/2012, Volume 287, Issue 35, pp. 29861 - 29872
The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the triplet-repeat sequence GAA·TTC within the first intron of the FXN gene. Although... 
Friedreich Ataxia - pathology | Humans | Spheroids, Cellular - pathology | MutS Homolog 2 Protein - metabolism | Iron-Binding Proteins - metabolism | Friedreich Ataxia - genetics | Cell Differentiation - genetics | DNA Mismatch Repair | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Induced Pluripotent Stem Cells - pathology | Cell Line | Friedreich Ataxia - metabolism | Introns - genetics | Spheroids, Cellular - metabolism | MutS Homolog 2 Protein - genetics | Transcription Factors - genetics | Fibroblasts - pathology | Neural Stem Cells - pathology | Trinucleotide Repeat Expansion | Transcription Factors - metabolism | Animals | Models, Biological | Iron-Binding Proteins - genetics | Mice | Genome, Human | Neural Stem Cells - metabolism | Index Medicus | Neurodegenerative Diseases | DNA and Chromosomes | Nucleotide Repeat Disease | DNA-binding Protein | Induced Pluripotent Stem Cell (iPSC) | DNA mismatch repair
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia
by Hick, Aurore and Wattenhofer-Donzé, Marie and Chintawar, Satyan and Tropel, Philippe and Simard, Jodie P and Vaucamps, Nadège and Gall, David and Lambot, Laurie and André, Cécile and Reutenauer, Laurence and Rai, Myriam and Teletin, Marius and Messaddeq, Nadia and Schiffmann, Serge N and Viville, Stéphane and Pearson, Christopher E and Pandolfo, Massimo and Puccio, Hélène
DMM Disease Models and Mechanisms, ISSN 1754-8403, 05/2013, Volume 6, Issue 3, pp. 608 - 621
Friedreich's ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats... 
FRATAXIN | INSTABILITY | MISMATCH REPAIR SYSTEM | CELLULAR-MODELS | FE-S PROTEINS | IRON | DIFFERENTIATION | PATHOLOGY | GAA TRIPLET-REPEAT | MOUSE MODELS | TRINUCLEOTIDE REPEAT | CELL BIOLOGY | Induced Pluripotent Stem Cells - pathology | Mitochondrial Diseases - pathology | Cell Line | Neurons - pathology | Friedreich Ataxia - pathology | Humans | Mitochondria - metabolism | Mitochondria - pathology | DNA Mismatch Repair - genetics | Fibroblasts - pathology | Mitochondria - ultrastructure | Myocytes, Cardiac - pathology | Phenotype | Neurons - ultrastructure | Models, Biological | DNA Repair Enzymes - metabolism | Membrane Potential, Mitochondrial | Myocytes, Cardiac - metabolism | Trinucleotide Repeat Expansion - genetics | Cell Differentiation | Neurons - metabolism | Myocytes, Cardiac - ultrastructure | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
14. Full Text Friedreich Ataxia: Failure of GABA-ergic and Glycinergic Synaptic Transmission in the Dentate Nucleus
by Koeppen, Arnulf H and Ramirez, R Liane and Becker, Alyssa B and Feustel, Paul J and Mazurkiewicz, Joseph E
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 02/2015, Volume 74, Issue 2, pp. 166 - 176
ABSTRACTAtrophy of large neurons in the dentate nucleus (DN) is an important pathologic correlate of neurologic disability in patients with Friedreich ataxia... 
Frataxin | Glycine receptor | Friedreich ataxia | GABA-A receptor | Dentate nucleus | Gephyrin | F-Aminobutyric acid | CELLS | AXON REGENERATION | IRON | PATHOLOGY | NEUROSCIENCES | FIBROBLASTS | CLINICAL NEUROLOGY | PATHOGENESIS | gamma-Aminobutyric acid | GABA(A) RECEPTOR | MOUSE CEREBELLUM | Neurons - pathology | Glycine - metabolism | Glycine Plasma Membrane Transport Proteins - metabolism | Synaptic Transmission - physiology | Friedreich Ataxia - pathology | gamma-Aminobutyric Acid - metabolism | Humans | Middle Aged | Male | Cerebellar Nuclei - pathology | Synapses - pathology | Cerebellar Nuclei - metabolism | Iron-Binding Proteins - metabolism | Young Adult | Synapses - metabolism | Adolescent | Glutamate Decarboxylase - metabolism | Adult | Female | Aged | Neurons - metabolism | Receptors, GABA-A - metabolism | Receptors, Glycine - metabolism | Child | Index Medicus | GABA-A-receptor | γ-Aminobutyric acid (GABA)
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
15. Full Text Longitudinal magnetic resonance imaging study shows progressive pyramidal and callosal damage in Friedreich's ataxia
by Rezende, Thiago J.R and Silva, Cynthia B and Yassuda, Clarissa L and Campos, Brunno M and D'Abreu, Anelyssa and Cendes, Fernando and Lopes‐Cendes, Iscia and França, Marcondes C
Movement Disorders, ISSN 0885-3185, 01/2016, Volume 31, Issue 1, pp. 70 - 78
IntroductionSpinal cord and peripheral nerves are classically known to be damaged in Friedreich's ataxia, but the extent of cerebral involvement in the disease... 
VBM | DTI | Friedreich's ataxia | Freesurfer | MRI | REPEAT EXPANSION | ATROPHY | RELIABILITY | CLINICAL NEUROLOGY | VOXEL-BASED MORPHOMETRY | TRACT | HUMAN CEREBRAL-CORTEX | SPATIAL STATISTICS | REGISTRATION | BRAIN | Severity of Illness Index | Cross-Sectional Studies | Friedreich Ataxia - pathology | Humans | Male | Statistics as Topic | Disease Progression | Diffusion Tensor Imaging | Young Adult | Image Processing, Computer-Assisted | Corpus Callosum - pathology | Age of Onset | Gray Matter - pathology | Adult | Female | Retrospective Studies | Longitudinal Studies | Pyramidal Tracts - pathology | Magnetic resonance imaging | Ataxia | Research | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights