Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.

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Parkinsonism in spinocerebellar ataxia Spinocerebellar ataxia: relationship between phenotype and genotype - a review.C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.Noncoding repeat expansions for ALS in Japan are associated with the gene

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Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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name

Non-Ataxic Phenotypes of SCA8 ...... lerosis and Parkinson Disease.

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Non-Ataxic Phenotypes of SCA8 ...... lerosis and Parkinson Disease.

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type

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Non-Ataxic Phenotypes of SCA8 ...... lerosis and Parkinson Disease.

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Non-Ataxic Phenotypes of SCA8 ...... lerosis and Parkinson Disease.

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Non-Ataxic Phenotypes of SCA8 ...... lerosis and Parkinson Disease.

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Non-Ataxic Phenotypes of SCA8 ...... lerosis and Parkinson Disease.

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P1476

Non-Ataxic Phenotypes of SCA8 ...... lerosis and Parkinson Disease.

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P2093

Jin Whan Cho

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Jinyoung Youn

http://www.w3.org/2001/XMLSchema#string

Tae Ok Son

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P2860

The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia

Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis.

P304

274-279

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scholarly article

case report

P356

10.3988/JCN.2013.9.4.274

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Chang-Seok Ki

Ji Sun Kim

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2013-10-31T00:00:00Z

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258958984

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24285970

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Parkinson's disease

amyotrophic lateral sclerosis

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3840139

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Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.

about

P2860

P2860

Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.

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