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1. Full Text Spinocerebellar ataxia: an update
by Sullivan, Roisin and Yau, Wai Yan and O’Connor, Emer and Houlden, Henry
Journal of neurology, ISSN 0340-5354, 02/2019, Volume 266, Issue 2, pp. 533 - 544
Spinocerebellar ataxia | Molecular diagnosis | Next-generation sequencing | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spinocerebellar Ataxias - diagnosis | Spinocerebellar Ataxias - metabolism | Spinocerebellar Ataxias - therapy | Humans | Spinocerebellar Ataxias - genetics | Mitochondria | Transcription | Trinucleotide repeats | Antisense oligonucleotides | Ataxia | Antisense RNA | Heredity | Ribonucleic acid--RNA | Autophagy | DNA repair | Phagocytosis | Index Medicus | Neurological Update
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2. Full Text Polyglutamine spinocerebellar ataxias-from genes to potential treatments
by Paulson, Henry L and Shakkottai, Vikram G and Clark, H. Brent and Orr, Harry T
Nature reviews. Neuroscience, ISSN 1471-003X, 09/2017, Volume 18, Issue 10, pp. 613 - 626
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Peptides - physiology | Brain - physiopathology | Humans | Peptides - genetics | Spinocerebellar Ataxias - physiopathology | Nerve Tissue Proteins - genetics | Spinocerebellar Ataxias - diagnosis | Animals | Models, Genetic | Models, Neurological | Mutation | Disease Models, Animal | Spinocerebellar Ataxias - genetics | Care and treatment | Spinocerebellar ataxia | Genotype | Development and progression | Genetic aspects | Gene expression | Health aspects | Neurological diseases | Polyglutamine | Ataxin | Neurodegenerative diseases | Therapeutic applications | Trinucleotide repeats | Trinucleotide repeat diseases | Glutamine | Index Medicus
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3. Full Text Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson’s disease? – A saccade study on pathophysiology
by Terao, Yasuo and Fukuda, Hideki and Tokushige, Shinnichi and Inomata-Terada, Satomi and Yugeta, Akihiro and Hamada, Masashi and Ichikawa, Yaeko and Hanajima, Ritsuko and Ugawa, Yoshikazu
Clinical neurophysiology, ISSN 1388-2457, 2015, Volume 127, Issue 2, pp. 1491 - 1502
Neurology | Cerebellum | Saccade | Multiple system atrophy | Basal ganglia | Pathophysiology | Parkinson’s disease | Parkinson's disease | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinsonian Disorders - physiopathology | Cerebellar Ataxia - epidemiology | Humans | Middle Aged | Parkinsonian Disorders - diagnosis | Parkinsonian Disorders - epidemiology | Spinocerebellar Ataxias - epidemiology | Male | Spinocerebellar Ataxias - physiopathology | Multiple System Atrophy - epidemiology | Cerebellar Ataxia - physiopathology | Spinocerebellar Ataxias - diagnosis | Female | Saccades - physiology | Aged | Multiple System Atrophy - diagnosis | Multiple System Atrophy - physiopathology | Cerebellar Ataxia - diagnosis | Atrophy | Medicine, Experimental | Medical research | Spinocerebellar ataxia | Index Medicus
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4. Full Text 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization
by García-Murias, María and Quintáns, Beatriz and Arias, Manuel and Seixas, Ana I and Cacheiro, Pilar and Tarrío, Rosa and Pardo, Julio and Millán, María J and Arias-Rivas, Susana and Blanco-Arias, Patricia and Dapena, Dolores and Moreira, Ramón and Rodríguez-Trelles, Francisco and Sequeiros, Jorge and Carracedo, Ángel and Silveira, Isabel and Sobrido, María J
Brain (London, England : 1878), ISSN 0006-8950, 2012, Volume 135, Issue 5, pp. 1423 - 1435
NOP56 | expansion mutation | founder effect | spinocerebellar ataxia | Galicia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Introns - genetics | Age Factors | Humans | Middle Aged | Family Health | Genotype | Male | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - pathology | Disease Progression | Magnetic Resonance Imaging | DNA Mutational Analysis | Spain - epidemiology | Aged, 80 and over | Brain - pathology | Trinucleotide Repeat Expansion - genetics | Female | Aged | Nuclear Proteins - genetics | Chromosomes, Human, Pair 20 - genetics | Genetic Linkage | Spinocerebellar Ataxias - genetics | Index Medicus | Abridged Index Medicus | Cerebellum | Haplotypes | Motor neurons | Tongue | Introns | Emigration | Amyotrophic lateral sclerosis | Hearing loss | Atrophy | Eye | Computed tomography | Magnetic resonance imaging | chromosome 20 | Mutation | Neurotransmission | Denervation | Original
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5. Full Text Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n
by Sato, Nozomu and Amino, Takeshi and Kobayashi, Kazuhiro and Asakawa, Shuichi and Ishiguro, Taro and Tsunemi, Taiji and Takahashi, Makoto and Matsuura, Tohru and Flanigan, Kevin M and Iwasaki, Sawa and Ishino, Fumitoshi and Saito, Yuko and Murayama, Shigeo and Yoshida, Mari and Hashizume, Yoshio and Takahashi, Yuji and Tsuji, Shoji and Shimizu, Nobuyoshi and Toda, Tatsushi and Ishikawa, Kinya and Mizusawa, Hidehiro
American journal of human genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 544 - 557
Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Haplotypes | Thymidine Kinase - genetics | Introns | Physical Chromosome Mapping | Humans | Spinocerebellar Ataxias - classification | Molecular Sequence Data | Sequence Analysis, DNA | Founder Effect | Homozygote | In Situ Hybridization | Genes, Dominant | Base Sequence | Age of Onset | Chromosomes, Human, Pair 16 | Adult | Mutagenesis, Insertional | Microsatellite Repeats | Spinocerebellar Ataxias - genetics | Index Medicus
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6. Full Text Spinocerebellar ataxia: relationship between phenotype and genotype – a review
by Sun, Y.‐M and Lu, C and Wu, Z.‐Y
Clinical genetics, ISSN 0009-9163, 10/2016, Volume 90, Issue 4, pp. 305 - 314
phenotype | spinocerebellar ataxia | autosomal dominant cerebellar ataxias | genotype | Autosomal dominant cerebellar ataxias | Genotype | Phenotype | Spinocerebellar ataxia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ataxins - genetics | Magnetic Resonance Imaging | Diagnosis, Differential | Genetic Association Studies | Humans | Ataxins - chemistry | Mutation | Spinocerebellar Ataxias - pathology | Sequence Analysis, DNA | Spinocerebellar Ataxias - genetics | Nervous system diseases | Genetic aspects | Genotype & phenotype | Ataxia | Genetic testing | Index Medicus
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