Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

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Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17.

P2860

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P2860

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

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http://www.wikidata.org/entity/Q36856462

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2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

Germ-line CAG repeat instabili ...... spinocerebellar ataxia type 2.

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type

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label

Germ-line CAG repeat instabili ...... spinocerebellar ataxia type 2.

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Germ-line CAG repeat instabili ...... spinocerebellar ataxia type 2.

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P1476

Germ-line CAG repeat instabili ...... spinocerebellar ataxia type 2.

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P2093

Jakob Ek

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Lena E Hjermind

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Morten Duno

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Troels Tolstrup Nielsen

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Tua Vinther-Jensen

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P2860

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases

Trinucleotide Repeat Disorders

CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.

Scale for the assessment and rating of ataxia: development of a new clinical scale.

Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.

P2888

ejhg.2012.231

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626-629

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scholarly article

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10.1038/EJHG.2012.231

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P478

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Flemming Skovby

Jørgen E Nielsen

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2012-10-10T00:00:00Z

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1048650983

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23047744

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infantile onset spinocerebellar ataxia

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3658194

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Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

about

P2860

P2860

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P921

P932