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1. 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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2. 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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3. Full Text The Spinocerebellar Ataxias
by Paulson, Henry L
Journal of neuro-ophthalmology, ISSN 1070-8022, 09/2009, Volume 29, Issue 3, pp. 227 - 237
Clinical Neurology | Ophthalmology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Predisposition to Disease - genetics | Ocular Motility Disorders - pathology | Humans | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Spinocerebellar Ataxias - physiopathology | Cerebellum - physiopathology | Spinocerebellar Ataxias - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Nerve Degeneration - pathology | Ocular Motility Disorders - genetics | Cerebellum - pathology | Vision Disorders - physiopathology | Vision Disorders - genetics | Brain Stem - pathology | Brain Stem - physiopathology | Ocular Motility Disorders - physiopathology | Spinocerebellar Ataxias - genetics | Index Medicus
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4. Full Text Brain pathology of spinocerebellar ataxias
by Seidel, Kay and Siswanto, Sonny and Brunt, Ewout R. P and den Dunnen, Wilfred and Korf, Horst-Werner and Rueb, Udo
Acta neuropathologica, ISSN 0001-6322, 07/2012, Volume 124, Issue 1, pp. 1 - 21
Cerebellum | PALLIDOLUYSIAN ATROPHY DRPLA | Neuropathology | Polyglutamine diseases | CLINICAL-FEATURES | UMCG Approved | NEURONAL INTRANUCLEAR INCLUSIONS | TATA-BINDING PROTEIN | GERMAN KINDREDS | Spinocerebellar ataxia | MACHADO-JOSEPH-DISEASE | CAG REPEAT EXPANSION | DOMINANT CEREBELLAR-ATAXIA | ATTENUATED NUCLEAR SHRINKAGE | ADCA | TRINUCLEOTIDE REPEAT | Pathology | Neurosciences | Medicine & Public Health | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - pathology | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - pathology | Humans | Spinocerebellar Ataxias - classification | Index Medicus | Neuroimaging | Transcription factors | retinal degeneration | Polyglutamine | Neurodegenerative diseases | Cerebellar ataxia | Data processing | trinucleotide repeat diseases | Ataxin | Magnetic resonance imaging | Tau protein | Purkinje cells | Inclusion bodies | Quality control | Calcification | Axonal transport | polyglutamine diseases | Brain injury
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5. 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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6. Full Text Primary and secondary ataxias
by Teive, Hélio A.G and Ashizawa, Tetsuo
Current opinion in neurology, ISSN 1350-7540, 08/2015, Volume 28, Issue 4, pp. 413 - 422
sporadic ataxias | congenital ataxias | autosomal recessive cerebellar ataxias | spinocerebellar ataxias | secondary ataxias | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Ataxia - physiopathology | Ataxia - genetics | Ataxia - diagnosis | Humans | Index Medicus
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