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1. Full Text XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia
by Hoch, N.C and Hanzlikova, H and Rulten, S.L and Tétreault, M and Komulainen, E and Ju, Limei and Hornyak, P and Zeng, Z and Gittens, W and Rey, S.A and Staras, K and Mancini, Grazia and McKinnon, P.J and Wang, Z.-Q and Wagner, J.D and Yoon, Grace and Caldecott, K.W and Care4Rare Canada Consortium
Nature (London), ISSN 0028-0836, 01/2017, Volume 541, Issue 7635, pp. 87 - 91
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Chromatin - metabolism | Humans | Adenosine Diphosphate Ribose - metabolism | DNA Repair Enzymes - genetics | Male | DNA Repair - genetics | DNA-Binding Proteins - deficiency | DNA Breaks, Single-Stranded | DNA-Binding Proteins - metabolism | Apraxias - congenital | Apraxias - genetics | DNA Repair Enzymes - metabolism | Poly (ADP-Ribose) Polymerase-1 - deficiency | Female | Ataxia - genetics | Cogan Syndrome - genetics | Cerebellum - metabolism | Phosphotransferases (Alcohol Group Acceptor) - genetics | Poly (ADP-Ribose) Polymerase-1 - metabolism | Cerebellar Ataxia - pathology | DNA-Binding Proteins - genetics | Interneurons - pathology | Cerebellum - pathology | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Phenotype | Animals | Cerebellar Ataxia - genetics | Interneurons - metabolism | Pedigree | Axons - pathology | Alleles | Mice | Mutation | X-ray Repair Cross Complementing Protein 1 | Poly (ADP-Ribose) Polymerase-1 - genetics | Genetic aspects | Gene mutations | Health aspects | Cerebellar ataxia | Proteins | Studies | Genotype & phenotype | Disease | Fibroblasts | Ataxia | Peripheral neuropathy | Patients | Deoxyribonucleic acid--DNA | Index Medicus
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2. Full Text 'Medusa-head ataxia': The expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII
by Jarius, S and Wildemann, B
Journal of neuroinflammation, ISSN 1742-2094, 09/2015, Volume 12, Issue 1, pp. 166 - 166
Anti-Nb | Autoantibodies | Paraneoplastic cerebellar degeneration | Inositol 1,4,5-trisphosphate receptor 1 (ITPR1, I3PR) antibodies | Cerebellar degeneration-related protein 2-like (CDR2L) antibodies | Protein kinase gamma (PKCγ) antibodies | Cerebellitis | Voltage-gated calcium channel (VGCC) antibodies | Anti-AP3B2 | Delta notch-like epidermal growth factor-related receptor (DNER) antibodies | Homer-3 antibodies | Anti-Ca | Anti-Tr | Autoimmune cerebellar ataxia | Purkinje cell antibody 2 (PCA-2) | Purkinje cells | Metabotropic glutamate receptor 1 (mGluR1) antibodies | Cerebellar degeneration-related protein 2 (CDR2) antibodies | Glutamate receptor delta2 (GluRδ2) antibodies | Neuronal adaptin-like protein (beta-NAP) antibodies | Rho GTPase-activating protein 26 (ARHGAP26, GRAF) antibodies | Anti-Yo | Carbonic anhydrase-related protein VIII (CARP VIII) antibodies | Anti-Sj | Neurosciences | Immunology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscle Proteins - immunology | Central Nervous System - metabolism | Cerebellar Ataxia - metabolism | Humans | Receptors, Metabotropic Glutamate - immunology | Central Nervous System - pathology | Inositol 1,4,5-Trisphosphate Receptors - immunology | Cerebellar Ataxia - pathology | Nuclear Proteins - immunology | Central Nervous System - immunology | Cerebellar Ataxia - immunology | Repressor Proteins - immunology | Homer Scaffolding Proteins | Carrier Proteins - immunology | Immunohistochemistry | Autoimmunity | Antigens | Calcium channels | Cerebellar ataxia | Saccades (Eye movements) | Diagnosis | Glutamate | Health aspects | Protein kinases | Index Medicus
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3. 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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4. Full Text 'Medusa head ataxia': The expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCC
by Jarius, S and Wildemann, B
Journal of neuroinflammation, ISSN 1742-2094, 09/2015, Volume 12, Issue 1, pp. 167 - 167
Anti-Nb | Autoantibodies | Paraneoplastic cerebellar degeneration | Inositol 1,4,5-trisphosphate receptor 1 (ITPR1, I3PR) antibodies | Cerebellar degeneration-related protein 2-like (CDR2L) antibodies | Protein kinase gamma (PKCγ) antibodies | Cerebellitis | Rho GTPase activating protein 26 (ARHGAP26, GRAF) antibodies | Voltage-gated calcium channel (VGCC) antibodies | Anti-AP3B2 | Delta notch-like epidermal growth factor-related receptor (DNER) antibodies | Homer-3 antibodies | Glutamate receptor delta-2 (GluRδ2) antibodies | Anti-Ca | Anti-Tr | Autoimmune cerebellar ataxia | Purkinje cell antibody 2 (PCA-2) | Purkinje cells | Metabotropic glutamate receptor 1 (mGluR1) antibodies | Cerebellar degeneration-related protein 2 (CDR2) antibodies | Neuronal adaptin-like protein (beta-NAP) antibodies | Anti-Yo | Carbonic anhydrase-related protein VIII (CARP VIII) antibodies | Anti-Sj | Neurosciences | Immunology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Autoantibodies - metabolism | Purkinje Cells - metabolism | Cerebellar Ataxia - metabolism | Nerve Tissue Proteins - immunology | Humans | Middle Aged | Protein Kinase C - immunology | Cerebellar Ataxia - pathology | GTPase-Activating Proteins - immunology | Receptors, Glutamate - immunology | Cerebellar Ataxia - immunology | Calcium Channels - immunology | Adult | Aged | Purkinje Cells - pathology | Immunohistochemistry | Autoimmunity | Calcium channels | Prognosis | Cerebellar ataxia | Amino acids | Diagnosis | Glutamate | Health aspects | Protein kinases | Index Medicus
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5. 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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6. Full Text Cerebellar ataxia disease-associated Snx14 promotes lipid droplet growth at ER-droplet contacts
by Datta, Sanchari and Liu, Yang and Hariri, Hanaa and Bowerman, Jade and Henne, W. Mike
The Journal of cell biology, ISSN 0021-9525, 04/2019, Volume 218, Issue 4, pp. 1335 - 1351
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Lipid Droplets - drug effects | Sorting Nexins - genetics | GTP-Binding Protein gamma Subunits - metabolism | Oleic Acid - metabolism | Coenzyme A Ligases - genetics | Endoplasmic Reticulum - genetics | Humans | Endoplasmic Reticulum - metabolism | GTP-Binding Protein gamma Subunits - genetics | Fatty Acids - toxicity | Endoplasmic Reticulum - ultrastructure | Coenzyme A Ligases - metabolism | Lipid Droplets - ultrastructure | Time Factors | Endoplasmic Reticulum - drug effects | Cell Line, Tumor | Oleic Acid - toxicity | Sorting Nexins - metabolism | Lipid Droplets - metabolism | Fatty Acids - metabolism | Cerebellum | Cerebellar ataxia | Crosstalk | Homeostasis | Lipids | Fatty acids | Mathematical morphology | Proteins | Ataxia | Droplets | Protein transport | Nexin | Budding | Endoplasmic reticulum | Index Medicus
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7. Full Text SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large multi-centre study
by Synofzik, Matthis and Smets, Katrien and Mallaret, Martial and Di Bella, Daniela and Gallenmüller, Constanze and Baets, Jonathan and Schulze, Martin and Magri, Stefania and Sarto, Elisa and Mustafa, Mona and Deconinck, Tine and Haack, Tobias and Züchner, Stephan and Gonzalez, Michael and Timmann, Dagmar and Stendel, Claudia and Klopstock, Thomas and Durr, Alexandra and Tranchant, Christine and Sturm, Marc and Hamza, Wahiba and Nanetti, Lorenzo and Mariotti, Caterina and Koenig, Michel and Schöls, Ludger and Schüle, Rebecca and De Jonghe, Peter and Anheim, Mathieu and Taroni, Franco and Bauer, Peter
Brain (London, England : 1878), ISSN 0006-8950, 05/2016, Volume 139, Issue 5, pp. 1378 - 1393
motor neuron disease | genetics | ataxia | hereditary spastic paraplegia | Nesprin 1 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Evoked Potentials, Motor - physiology | Humans | Middle Aged | Male | Positron-Emission Tomography | Mutation, Missense | Brain - metabolism | Young Adult | Cerebellar Ataxia - physiopathology | Cerebellar Ataxia - diagnostic imaging | Adult | Female | Heredodegenerative Disorders, Nervous System - diagnostic imaging | Muscles - metabolism | Nuclear Proteins - genetics | Heredodegenerative Disorders, Nervous System - diagnosis | Nuclear Proteins - metabolism | Heredodegenerative Disorders, Nervous System - physiopathology | Genes, Recessive | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Magnetic Resonance Imaging | Phenotype | Cerebellar Ataxia - genetics | Aged | High-Throughput Nucleotide Sequencing | Cerebellar Ataxia - diagnosis | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology |