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1. Full Text The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics
by Hersheson, Joshua and Haworth, Andrea and Houlden, Henry
Human Mutation, ISSN 1059-7794, 09/2012, Volume 33, Issue 9, pp. 1324 - 1332
The inherited cerebellar ataxias are a diverse group of clinically and genetically heterogeneous neurodegenerative disorders. Inheritance patterns of these... 
ataxia | mutation database | next‐generation sequencing | neurogenetics | Mutation database | Ataxia | Next-generation sequencing | Neurogenetics | next-generation sequencing | GENETICS & HEREDITY | PHENOTYPE | CHANNEL GENE | SPINOCEREBELLAR | DOMINANT ATAXIA | Genetic Association Studies | Genetic Research | Humans | Databases, Genetic | Spinocerebellar Degenerations - diagnosis | Genetic Loci | Mutation | Genome, Human | Spinocerebellar Degenerations - genetics | Genes, Recessive | Genetic Heterogeneity | Microsatellite Repeats | Nervous system diseases | Neurosciences | Anopheles | Databases | Diagnostic equipment (Medical) | Genes | Development and progression | Universities and colleges
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2. Full Text Genetic Cerebellar Ataxias
by Storey, Elsdon
Seminars in Neurology, ISSN 0271-8235, 07/2014, Volume 34, Issue 3, pp. 280 - 292
Abstract This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there has been a... 
episodic ataxias | recessive ataxias | fragile-X tremor ataxia syndrome | spinocerebellar ataxias | CAG TRINUCLEOTIDE REPEAT | FRAGILE-X | CLINICAL-FEATURES | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | VITAMIN-E-DEFICIENCY | SPINOCEREBELLAR ATAXIA | TREMOR/ATAXIA SYNDROME | MACHADO-JOSEPH-DISEASE | POLYGLUTAMINE EXPANSIONS | FRIEDREICH ATAXIA | Fragile X Syndrome - genetics | Humans | Tremor - diagnosis | Spinocerebellar Ataxias - congenital | Mutation - genetics | Ataxia - diagnosis | Syndrome | Spinocerebellar Ataxias - diagnosis | Animals | Cerebellar Ataxia - genetics | Tremor - genetics | Muscle Spasticity - diagnosis | Ataxia - genetics | Cerebellar Ataxia - diagnosis | Muscle Spasticity - genetics | Fragile X Syndrome - diagnosis | Physician's Role | Spinocerebellar Ataxias - genetics
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3. 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
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3,... 
NUCLEAR-LOCALIZATION | CAG REPEAT | OLIVOPONTOCEREBELLAR ATROPHY | MOUSE MODEL | DEGENERATIVE ATAXIA | EXPANDED ATAXIN-7 | DOMINANT CEREBELLAR-ATAXIA | NEUROSCIENCES | MEDIATES NEURODEGENERATION | TRANSGENIC MICE | DISEASE PROGRESSION | 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
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4. Full Text Genetics of ataxias: Hereditary forms
by Tirada, N and Levy, L.M
American Journal of Neuroradiology, ISSN 0195-6108, 09/2014, Volume 35, Issue 9, pp. 1681 - 1682
SPINOCEREBELLAR ATAXIAS | UPDATE | NEUROIMAGING | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CEREBELLAR ATAXIAS | CLINICAL NEUROLOGY
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5. Full Text TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
by Wang, Jun and Wang, Jun Ling and Yang, Xu and Xia, Kun and Hu, Zheng Mao and Weng, Ling and Jin, Xin and Jiang, Hong and Zhang, Peng and Shen, Lu and Guo, Ji Feng and Ii, Nan and Li, Ying Rui and Lei, Li Fang and Zhou, Jie and Du, Juan and Zhou, Ya Fang and Pan, Qian and Wang, Jian and Li, Rui Qiang and Tang, Bei Sha
Brain, ISSN 0006-8950, 12/2010, Volume 133, Issue 12, pp. 3510 - 3518
Autosomal-dominant spinocerebellar ataxias constitute a large, heterogeneous group of progressive neurodegenerative diseases with multiple types. To date,... 
TGM6 | Spinocerebellar ataxia | Whole-exome sequencing | Linkage analysis | linkage analysis | DISEASE | DOMINANT | SCALE | whole-exome sequencing | spinocerebellar ataxia | CAPTURE | LOCUS | NEUROSCIENCES | TRANSGLUTAMINASES | CLINICAL NEUROLOGY | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Databases, Genetic | Transglutaminases - genetics | Male | Mutation, Missense | Mutation - physiology | China | Gene Deletion | Adult | Female | Genetic Linkage | Spinocerebellar Ataxias - genetics | Genome-Wide Association Study | Exons - genetics | Genotype | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | DNA - genetics | Point Mutation | Pedigree | Age of Onset | Mutagenesis, Insertional | Chromosomes, Human, Pair 20 - genetics | Cohort Studies
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6. Full Text Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
by Schöls, Ludger and Bauer, Peter and Schmidt, Thorsten and Schulte, Thorsten and Riess, Olaf
Lancet Neurology, ISSN 1474-4422, 2004, Volume 3, Issue 5, pp. 291 - 304
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In... 
NEURONAL INTRANUCLEAR INCLUSIONS | EXPANDED POLYGLUTAMINE | RESTLESS LEGS SYNDROME | CREB-BINDING PROTEIN | MACHADO-JOSEPH-DISEASE | SPINOCEREBELLAR-ATAXIA | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | TRINUCLEOTIDE REPEAT EXPANSION | CAG-REPEAT | HUNTINGTONS-DISEASE | CLINICAL NEUROLOGY | Neuropsychology - methods | Prevalence | Humans | Spinocerebellar Ataxias - classification | Spinocerebellar Ataxias - epidemiology | Genotype | Spinocerebellar Ataxias - physiopathology | Trinucleotide Repeats - genetics | Molecular Biology - methods | Incidence | Diagnostic Imaging - methods | Electrophysiology - methods | Cell Death | Models, Neurological | Disease Models, Animal | Genetic Linkage | Spinocerebellar Ataxias - genetics
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7. 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, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
Boucher-Neuhauser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy... 
retinal degeneration | genetics | hypogonadism | ataxia | hereditary spastic paraplegia | spastic ataxia | early onset ataxia | recessive ataxia | spasticity | LIPID ACYL HYDROLASE | FORM | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | NEUROPATHY TARGET ESTERASE | FRAMEWORK | RECESSIVE CEREBELLAR ATAXIAS | DNA-SEQUENCING DATA | GENOME ANALYSIS | HYPOGONADOTROPIC HYPOGONADISM | 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 | Original
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8. Full Text Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
by Durr, Alexandra, Dr
Lancet Neurology, The, ISSN 1474-4422, 2010, Volume 9, Issue 9, pp. 885 - 894
Summary Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the associated genes has provided insight into the mechanisms... 
Neurology | KINASE-C-GAMMA | SCA8 LOCUS | MACHADO-JOSEPH-DISEASE | HEREDITARY SPINOCEREBELLAR ATAXIA | GENETICALLY DEFINED SUBTYPES | CLINICAL-FEATURES | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | CAG REPEAT LENGTH | DE-NOVO EXPANSION | CLINICAL NEUROLOGY | TRINUCLEOTIDE REPEAT | Cerebellar Ataxia - classification | Cerebellar Ataxia - genetics | Cerebellar Ataxia - epidemiology | Humans | Peptides - genetics | Brain - pathology | Magnetic Resonance Imaging - methods | Genes, Dominant - genetics | Nerve Tissue Proteins - genetics | Proteins | RNA | Glutamate
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9. Full Text Antisense oligonucleotide therapy for spinocerebellar ataxia type 2
by Scoles, Daniel R and Meera, Pratap and Schneider, Matthew D and Paul, Sharan and Dansithong, Warunee and Figueroa, Karla P and Hung, Gene and Rigo, Frank and Bennett, C. Frank and Otis, Thomas S and Pulst, Stefan M
Nature, ISSN 0028-0836, 04/2017, Volume 544, Issue 7650, pp. 362 - 366
There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies(1) in two mouse models of... 
PATHOGENESIS | MULTIDISCIPLINARY SCIENCES | DISEASE | MOUSE | SCA2 | NEURODEGENERATION | METABOTROPIC GLUTAMATE RECEPTORS | MICE | MODEL | EXPRESSION | Humans | Male | Spinocerebellar Ataxias - therapy | RNA, Messenger - metabolism | Ataxin-2 - genetics | Action Potentials | RNA, Messenger - biosynthesis | Ataxin-2 - metabolism | Oligonucleotides, Antisense - therapeutic use | Female | Disease Models, Animal | Spinocerebellar Ataxias - genetics | Movement | Purkinje Cells - metabolism | RNA, Messenger - genetics | Gene Expression Regulation | Mice, Transgenic | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - pathology | Ataxin-2 - deficiency | Phenotype | Rotarod Performance Test | Animals | Mice | Purkinje Cells - pathology | Antisense nucleic acids | Care and treatment | Genetic aspects | Purkinje cells | Health aspects | Spinocerebellar ataxia | Proteins | Studies | Disease | Neurodegeneration | Rodents | Amyotrophic lateral sclerosis | Nervous system | Mutation | FDA approval | Drug dosages | Deoxyribonucleic acid--DNA
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10. Full Text RNA gain-of-function in spinocerebellar ataxia type 8
by Daughters, Randy S and Tuttle, Daniel L and Gao, Wangcai and Ikeda, Yoshio and Moseley, Melinda L and Ebner, Timothy J and Swanson, Maurice S and Ranum, Laura P. W
PLoS Genetics, ISSN 1553-7390, 08/2009, Volume 5, Issue 8, pp. e1000600 - e1000600
Microsatellite expansions cause a number of dominantly-inherited neurological diseases. Expansions in coding-regions cause protein gain-of-function effects,... 
MYOTONIC-DYSTROPHY TYPE-1 | MESSENGER-RNA | MUSCLEBLIND PROTEINS | ANTISENSE TRANSCRIPTION | MIS-REGULATION | CTG REPEATS | IN-VIVO | GENETICS & HEREDITY | NUCLEAR FOCI | EXPANDED CUG REPEAT | BINDING PROTEIN | Cell Line | RNA-Binding Proteins - genetics | Alternative Splicing | Humans | RNA, Untranslated | Gene Expression Regulation | Intranuclear Inclusion Bodies - genetics | Mice, Transgenic | Spinocerebellar Ataxias - metabolism | Nerve Tissue Proteins - genetics | Trinucleotide Repeat Expansion | RNA - genetics | Nerve Tissue Proteins - metabolism | Animals | RNA, Long Noncoding | Mice | Neurons - metabolism | Intranuclear Inclusion Bodies - metabolism | RNA-Binding Proteins - metabolism | Disease Models, Animal | RNA - metabolism | Spinocerebellar Ataxias - genetics | GABA | Genetic aspects | Research | RNA | Spinocerebellar ataxia | Index Medicus | Proteins | Studies | Musculoskeletal system | Neurosciences | Rodents | Genes | Ataxia
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11. Full Text Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
by Kobayashi, Hatasu and Abe, Koji and Matsuura, Tohru and Ikeda, Yoshio and Hitomi, Toshiaki and Akechi, Yuji and Habu, Toshiyuki and Liu, Wanyang and Okuda, Hiroko and Koizumi, Akio
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 121 - 130
Autosomal-dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders. In this study, we performed genetic analysis of a... 
NEURODEGENERATION | DOMINANT CEREBELLAR ATAXIAS | CLINICAL-FEATURES | PCR | GENETICS & HEREDITY | Haplotypes | Enkephalins - metabolism | Humans | Middle Aged | Spinocerebellar Ataxias - classification | Male | MicroRNAs - metabolism | Mutation, Missense | Lod Score | Motor Neurons - pathology | Enkephalins - genetics | Adult | Female | Nuclear Proteins - genetics | Spinocerebellar Ataxias - genetics | Introns - genetics | Protein Precursors - genetics | Amyotrophic Lateral Sclerosis - genetics | In Situ Hybridization, Fluorescence | Nuclear Proteins - metabolism | Spinocerebellar Ataxias - pathology | Protein Precursors - metabolism | Pedigree | Age of Onset | Aged | MicroRNAs - genetics | Alzheimer Disease - genetics | Cohort Studies | Motor neurons | Neurodegenerative diseases | RNA | Transcription | Amyotrophic lateral sclerosis | RNA-binding protein | Fluorescence in situ hybridization | Genetic analysis | Family studies | miRNA | Mutation | Open reading frames | Gene mapping | Alzheimer's disease | Linkage analysis | Report
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