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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 Recessive ataxias
by Synofzik, Matthis and Németh, Andrea H
2018, ISBN 9780444641892, Volume 155
genetics | early-onset ataxia | next-generation sequencing | SCAR | ataxia with oculomotor apraxia | autosomal-recessive spastic ataxia Charlevoix–Saguenay | Friedreich ataxia | whole-exome sequencing | SYNE1 | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Genes, Recessive - genetics | Humans | Spinocerebellar Ataxias - classification | Spinocerebellar Ataxias - diagnostic imaging | Mutation - genetics | Nerve Tissue Proteins - genetics | Vitamin E Deficiency - genetics | Molecular Diagnostic Techniques | Vitamin E Deficiency - complications | Ataxia - complications | Ataxia - genetics | Heredodegenerative Disorders, Nervous System - diagnostic imaging | Nuclear Proteins - genetics | Spinocerebellar Ataxias - genetics | Index Medicus
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3. Full Text A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
by Seixas, Ana I and Loureiro, Joana R and Costa, Cristina and Ordóñez-Ugalde, Andrés and Marcelino, Hugo and Oliveira, Cláudia L and Loureiro, José L and Dhingra, Ashutosh and Brandão, Eva and Cruz, Vitor T and Timóteo, Angela and Quintáns, Beatriz and Rouleau, Guy A and Rizzu, Patrizia and Carracedo, Ángel and Bessa, José and Heutink, Peter and Sequeiros, Jorge and Sobrido, Maria J and Coutinho, Paula and Silveira, Isabel
American journal of human genetics, ISSN 0002-9297, 07/2017, Volume 101, Issue 1, pp. 87 - 103
DAB1 reelin adaptor protein | unstable repeat insertion | repeat instability | neurodevelopmental gene | neurodegenerative disease | SCA37 | repeat expansion | RNA-mediated toxicity | neurodegeneration | large Alu pentanucleotide repeat | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Male | RNA, Messenger - metabolism | RNA - genetics | Young Adult | Haplotypes - genetics | DNA Mutational Analysis | Base Sequence | HEK293 Cells | Adult | Female | Chromosomes, Human, Pair 1 - genetics | Spinocerebellar Ataxias - genetics | Genetic Predisposition to Disease | Introns - genetics | Physical Chromosome Mapping | Cerebellum - metabolism | RNA, Messenger - genetics | Embryonic Development - genetics | DNA, Intergenic - genetics | Nerve Tissue Proteins - genetics | Mutagenesis, Insertional - genetics | Microsatellite Repeats - genetics | Nerve Tissue Proteins - metabolism | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Alleles | Adaptor Proteins, Signal Transducing - metabolism | Chromosome Segregation - genetics | Index Medicus
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4. 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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5. Full Text Hereditary ataxias: Overview
by Jayadev, Suman and Bird, Thomas D
Genetics in medicine, ISSN 1098-3600, 09/2013, Volume 15, Issue 9, pp. 673 - 683
ataxia | cerebellum | neurogenetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Testing | Humans | Spinocerebellar Degenerations - diagnosis | Spinocerebellar Degenerations - genetics | Genes, Recessive | Genetic Counseling | Spinocerebellar Degenerations - ethnology | Trinucleotide Repeat Expansion | Phenotype | Genes, Dominant | Age of Onset | Adult | Female | Spinocerebellar Degenerations - epidemiology | Child | Index Medicus
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6. Full Text Spinocerebellar ataxias
by Soong, Bing-Wen and Morrison, Patrick J
2018, ISBN 9780444641892, Volume 155
triplet repeat expansion | DRPLA | ataxia | spinocerebellar | cerebellar | autosomal-dominant | adult | pediatric | Ataxins - genetics | Spinocerebellar Ataxias - complications | History, 21st Century | History, 20th Century | Humans | Spinocerebellar Ataxias - classification | Genotype | Myoclonic Epilepsies, Progressive - etiology | Mutation - genetics | Spinocerebellar Ataxias - history | Chromosome Aberrations | History, 19th Century | Myoclonic Epilepsies, Progressive - genetics | Myoclonic Epilepsies, Progressive - history | Spinocerebellar Ataxias - genetics | Index Medicus
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7. Full Text Genetic Cerebellar Ataxias
by Storey, Elsdon
Seminars in neurology, ISSN 0271-8235, 07/2014, Volume 34, Issue 3, pp. 280 - 292
episodic ataxias | recessive ataxias | fragile-X tremor ataxia syndrome | spinocerebellar ataxias | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus
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8. Full Text Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes
by de Castilhos, Raphael Machado and de Castilhos, Raphael Machado and Furtado, Gabriel Vasata and Furtado, Gabriel Vasata and Gheno, Tailise Conte and Gheno, Tailise Conte and Schaeffer, Paola and Schaeffer, Paola and Russo, Aline and Russo, Aline and Barsottini, Orlando and Barsottini, Orlando and Pedroso, José Luiz and Pedroso, José Luiz and Salarini, Diego Z and Salarini, Diego Z and Vargas, Fernando Regla and Vargas, Fernando Regla and Lima, Maria Angélica de Faria Domingues de and Lima, Maria Angélica de Faria Domingues de and Godeiro, Clécio and Godeiro, Clécio and Santana-da-Silva, Luiz Carlos and Santana-da-Silva, Luiz Carlos and Toralles, Maria Betânia Pereira and Toralles, Maria Betânia Pereira and Santos, Silvana and Santos, Silvana and van der Linden Jr, Hélio and van der Linden Jr, Hélio and Wanderley, Hector Yuri and Wanderley, Hector Yuri and de Medeiros, Paula Frassineti Vanconcelos and de Medeiros, Paula Frassineti Vanconcelos and Pereira, Eliana Ternes and Pereira, Eliana Ternes and Ribeiro, Erlane and Ribeiro, Erlane and Saraiva-Pereira, Maria Luiza and Saraiva-Pereira, Maria Luiza and Jardim, Laura Bannach and Jardim, Laura Bannach and Rede Neurogenetica and on behalf of Rede Neurogenetica
The Cerebellum, ISSN 1473-4222, 2/2014, Volume 13, Issue 1, pp. 17 - 28
SCA7 | Neurology | SCA10 | Neurosciences | Biomedicine | Neurobiology | SCA2 | SCA3/MJD | Modifier genes | Spinocerebellar ataxias | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Seizures - genetics | Ataxin-3 | Humans | Middle Aged | Repressor Proteins - genetics | Spinocerebellar Ataxias - epidemiology | Continental Population Groups - genetics | Nerve Tissue Proteins - genetics | Trinucleotide Repeat Expansion | Young Adult | Phenotype | DNA Mutational Analysis | Seizures - epidemiology | Adolescent | Age of Onset | Adult | Family | Nuclear Proteins - genetics | Child | Brazil - epidemiology | Spinocerebellar Ataxias - genetics | Seizures (Medicine) | Analysis | Genes | Medical genetics | Index Medicus
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9. 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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