Prevalence of spinocerebellar ataxia 36 in a US population.

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Prevalence of spinocerebellar ataxia 36 in a US population.

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2017 nî lūn-bûn

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2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

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Prevalence of spinocerebellar ataxia 36 in a US population.

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Prevalence of spinocerebellar ataxia 36 in a US population.

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Prevalence of spinocerebellar ataxia 36 in a US population.

@en

P1476

Prevalence of spinocerebellar ataxia 36 in a US population.

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P2093

Beatriz Quintáns

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Brent L Fogel

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Daniel H Geschwind

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Dmitry Akhmedov

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Donna Muzny

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James R Lupski

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Jennifer E Below

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Juliana M Valera

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Lauren E Petty

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Maria J Sobrido

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P2860

Allegro, a new computer program for multipoint linkage analysis

Spinocerebellar ataxia type 36 in the Han Chinese

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

Exome sequencing in undiagnosed inherited and sporadic ataxias

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

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

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

P304

e174

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scholarly article

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10.1212/NXG.0000000000000174

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P433

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P478

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P50

Eric Boerwinkle

Donna Muzny

P577

2017-07-18T00:00:00Z

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P698

28761930

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P932

5515602

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