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1. The cerebellum
The cerebellum, ISSN 1473-4222, 2002
Cerebellum | Ataxia
Journal
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2. Full Text 149 Optical coherence tomography in an irish SPG7 cohort
by Bogdanova-Mihaylova, Petya and Chen, Hongying and Plapp, Helena and Murphy, Sinéad M and Walsh, Richard A
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2019, Volume 90, Issue 12, p. e41
Ataxia
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3. Full Text 15.45 Recessive pentanucleotide repeat expansion in RFC1 causes CANVAS and late-onset sensory ataxia
by Cortese, Andrea and Reilly, Mary M and Houlden, Henry
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2019, Volume 90, Issue 12, p. e5
Ataxia
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4. 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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5. Full Text S69. Peripheral nerve ultrasound in Friedreich’s ataxia
by Mulroy, Eoin and Pelosi, Luciana and Leadbetter, Ruth and Joshi, Purwa and Rodrigues, Miriam and Mossman, Stuart and Kilfoyle, Dean and Roxburgh, Richard
Clinical neurophysiology, ISSN 1388-2457, 05/2018, Volume 129, pp. e167 - e168
Ataxia
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6. Full Text PO095 Utility of ataxia gene panel testing in irish inherited ataxia cases
by Bogdanova-Mihaylova, Petya and Walsh, Richard A
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A36 - A37
Ataxia
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7. Full Text PO231 A case of superficial siderosis mimicking myasthenia gravis
by Matthews, Rachael and Mirza, Farhat and Ramdass, Ranjit and Mohanraj, Rajiv
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A73 - A73
Ataxia
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8. Full Text PO091 Breathing difficulty in adult onset alexander’s disease
by McAuley, John and Chawda, Sanjiv
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A35 - A35
Ataxia
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9. Full Text Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Nature genetics, ISSN 1061-4036, 05/2019, Volume 51, Issue 5, pp. 920 - 920
Ataxia
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10. Full Text PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
by Synofzik, Matthis and Gonzalez, Michael A and Lourenco, Charles Marques and Coutelier, Marie and Haack, Tobias B and Rebelo, Adriana and Hannequin, Didier and Strom, Tim M and Prokisch, Holger and Kernstock, Christoph and Durr, Alexandra and Schöls, Ludger and Lima-Martínez, Marcos M and Farooq, Amjad and Schüle, Rebecca and Stevanin, Giovanni and Marques, Wilson and Züchner, Stephan
Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
retinal degeneration | genetics | hypogonadism | ataxia | hereditary spastic paraplegia | spastic ataxia | early onset ataxia | recessive ataxia | spasticity | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Retinopathies | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Nervous system as a whole | Medical sciences | Ophthalmology | Nervous system (semeiology, syndromes) | Spastic Paraplegia, Hereditary - genetics | Heredodegenerative Disorders, Nervous System - genetics | Humans | Middle Aged | Ataxia - etiology | Male | Phospholipases - genetics | Cerebellar Ataxia - physiopathology | Mutation - physiology | Adult | Female | Hypogonadism - physiopathology | Ataxia - genetics | Spinocerebellar Ataxias - genetics | Gonadotropin-Releasing Hormone - genetics | Models, Molecular | Spinocerebellar Ataxias - physiopathology | Heredodegenerative Disorders, Nervous System - physiopathology | Mutation - genetics | Retinal Dystrophies - physiopathology | DNA - genetics | Hypogonadism - genetics | Exome - genetics | Cerebellar Ataxia - genetics | Family | Gonadotropin-Releasing Hormone - deficiency | Retinal Dystrophies - genetics | Index Medicus | Abridged Index Medicus | Original
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11. 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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12. Full Text Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline
by Os, N.J.H. van and Roeleveld, N and Weemaes, C.M and Jongmans, M.C and Janssens, G.O and Taylor, A.M and Hoogerbrugge, N and Willemsen, M.A
Clinical genetics, ISSN 0009-9163, 2016, Volume 90, Issue 2, pp. 105 - 117
ataxia‐telangiectasia | heterozygote | risk factor | ATM protein | ataxia-telangiectasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Myocardial Ischemia - genetics | Gastrointestinal Neoplasms - genetics | Humans | Middle Aged | Breast Neoplasms - etiology | Genetic Counseling | Gastrointestinal Neoplasms - pathology | Life Expectancy | Adult | Female | Ataxia Telangiectasia - complications | Myocardial Ischemia - diagnosis | Ataxia Telangiectasia - diagnosis | Gene Expression | Genetic Predisposition to Disease | Risk Factors | Gastrointestinal Neoplasms - diagnosis | Evidence-Based Medicine | Gastrointestinal Neoplasms - etiology | Myocardial Ischemia - pathology | Breast Neoplasms - genetics | Myocardial Ischemia - etiology | Breast Neoplasms - pathology | Ataxia Telangiectasia - pathology | Ataxia Telangiectasia - genetics | Heterozygote | Breast Neoplasms - diagnosis | Mutation | Ataxia Telangiectasia Mutated Proteins - genetics | Practice Guidelines as Topic | Nervous system diseases | Oncology, Experimental | Mortality | Practice guidelines (Medicine) | Ataxia | Ataxia telangiectasia | Research | Heart diseases | Health aspects | Risk factors | Cancer | Hormone replacement therapy | Breast cancer | Health risk assessment | Index Medicus
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13. Full Text Novel pathogenic COX 20 variants causing dysarthria, ataxia, and sensory neuropathy
by Maria G. Otero and Emmanuelle Tiongson and Frank Diaz and Katrina Haude and Karin Panzer and Ashley Collier and Jaemin Kim and David Adams and Cynthia J. Tifft and Hong Cui and Francisca Millian Zamora and Margaret G. Au and John M. Graham Jr and David J. Buckley and Richard Lewis and Camilo Toro and Renkui Bai and Lesley Turner and Katherine D. Mathews and William Gahl and Tyler Mark Pierson
Annals of clinical and translational neurology, 01/2019, Volume 6, Issue 1, pp. 154 - 160
Ataxia
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14. Full Text Fifteen-minute consultation: the child with acute ataxia.(Best Practice)
by Setty, Gururaj and Prasad, Manish and Ong, Min Tsui and Whitehouse, William P
Archives of disease in childhood. Fetal and neonatal edition, ISSN 1359-2998, 12/2013, Volume 98, Issue 12, p. S217
Ataxia
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15. Full Text Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect
by Fiévet, Alice and Bellanger, Dorine and Valence, Stéphanie and Mobuchon, Lenha and Afenjar, Alexandra and Giuliano, Fabienne and Dubois d'Enghien, Catherine and Parfait, Béatrice and Pedespan, Jean‐Michel and Auger, Nathalie and Rieunier, Guillaume and Collet, Agnès and Burglen, Lydie and Stoppa‐Lyonnet, Dominique and Stern, Marc‐Henri
Human mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1690 - 1699
checkpoint | MRN | ataxia‐telangiectasia‐like disorder (ATLD) | ataxia | ataxia‐telangiectasia mutated (ATM) | meiotic recombination 11 (MRE11) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ataxia Telangiectasia - diagnosis | Haplotypes | Genetic Predisposition to Disease | Disease Susceptibility | Ataxia Telangiectasia Mutated Proteins - metabolism | Genetic Association Studies | Signal Transduction | Humans | Transcriptome | Infant | Gene Expression Profiling | S Phase Cell Cycle Checkpoints - genetics | Magnetic Resonance Imaging | Phenotype | RNA Splicing | Ataxia Telangiectasia - etiology | Cell Line, Tumor | Female | Mutation | Ataxia Telangiectasia Mutated Proteins - genetics | MRE11 Homologue Protein - metabolism | Child | MRE11 Homologue Protein - genetics | Cerebellum | Camptothecin | Phosphorylation | Cerebellar ataxia | DNA damage | Lymphoblastoid cell lines | Karyotypes | Meiosis | Defects | Genomic instability | Pathogenicity | MRE11 protein | Ataxia telangiectasia | Ataxia | Index Medicus
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16. Full Text Spontaneous pneumothorax in ataxia telangectasia
by Sudheer Chakravarthi and Manoj Goyal
Indian journal of medical research (New Delhi, India : 1994), ISSN 0971-5916, 02/2014, Volume 139, Issue 2, pp. 321 - 322
Ataxia
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17. Full Text Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3
by Barca, E and Musumeci, O and Montagnese, F and Marino, S and Granata, F and Nunnari, D and Peverelli, L and DiMauro, S and Quinzii, C.M and Toscano, A
Clinical genetics, ISSN 0009-9163, 08/2016, Volume 90, Issue 2, pp. 156 - 160
neurodegenerative diseases | cerebellar ataxia | ADCK3 | mitochondrial disorders | CoQ10 | Mitochondrial disorders | Neurodegenerative diseases | Cerebellar ataxia | Electron Transport Chain Complex Proteins - deficiency | Lactic Acid - blood | Muscle Weakness - diagnosis | Skin - metabolism | Humans | Middle Aged | Ubiquinone - deficiency | Muscle Weakness - complications | Male | Muscle, Skeletal - metabolism | Mitochondrial Proteins - genetics | Muscle Weakness - genetics | Cerebellar Ataxia - physiopathology | Mitochondrial Diseases - complications | Ataxia - genetics | Mitochondrial Proteins - deficiency | Fibroblasts - metabolism | Mitochondrial Diseases - genetics | Ataxia - physiopathology | Gene Expression | Ubiquinone - analogs & derivatives | Electron Transport Chain Complex Proteins - genetics | Mitochondria - metabolism | Ubiquinone - genetics | Codon, Nonsense | Delayed Diagnosis | Mitochondria - pathology | Ataxia - diagnosis | Homozygote | Magnetic Resonance Imaging | Cerebellar Ataxia - complications | Cerebellar Ataxia - genetics | Muscle, Skeletal - physiopathology | Ataxia - complications | Muscle Weakness - physiopathology | Mitochondrial Diseases - physiopathology | Cerebellar Ataxia - diagnosis | Mitochondrial Diseases - diagnosis | Genetic research | Muscles | Lactates | Genetic aspects | Codon | Ataxia | Mutation | Index Medicus
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18. Full Text ATM is activated by ATP depletion and modulates mitochondrial function through NRF1
by Chow, Hei-Man and Cheng, Aifang and Song, Xuan and Swerdel, Mavis R and Hart, Ronald P and Herrup, Karl
The Journal of cell biology, ISSN 0021-9525, 03/2019, Volume 218, Issue 3, pp. 909 - 928
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Purkinje Cells - metabolism | Ataxia Telangiectasia Mutated Proteins - metabolism | Humans | Cells, Cultured | Adenosine Triphosphate - genetics | Ataxia Telangiectasia - metabolism | Mitochondria - metabolism | Nuclear Respiratory Factor 1 - genetics | Animals | Mitochondria - genetics | Adenosine Triphosphate - metabolism | Ataxia Telangiectasia - pathology | Nuclear Respiratory Factor 1 - metabolism | Ataxia Telangiectasia - genetics | Mice | Ataxia Telangiectasia Mutated Proteins - genetics | Purkinje Cells - pathology | Cerebellum | Oxidative stress | Reactive oxygen species | Gene regulation | DNA damage | Mitochondrial DNA | Electron transport chain | Mitochondria | Purkinje cells | Ataxia | Dimerization | Deoxyribonucleic acid--DNA | Translocation | Signs and symptoms | Cell survival | Gene expression | Nuclear transport | Nuclear fuels | Depletion | Ataxia telangiectasia | Ataxia telangiectasia mutated protein | Energy demand | Mutation | Electron transport | ATP | Alternative fuels | Index Medicus | 1 | s | 29 | 43
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