Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

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Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease

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Q41882102-3E8F9523-CA17-4FDE-AEF4-58E2C5784527

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Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

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2015 nî lūn-bûn

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Spinocerebellar ataxia type 3/ ...... of expanded CAG transmissions.

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Spinocerebellar ataxia type 3/ ...... of expanded CAG transmissions.

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Spinocerebellar ataxia type 3/ ...... of expanded CAG transmissions.

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Spinocerebellar ataxia type 3/ ...... of expanded CAG transmissions

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A C Krum-Santos

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A S P Santos

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D Pacheco

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E P Mattos

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G N Souza

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G V Furtado

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L B Jardim

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N Kersting

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T A Gonçalves

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P2860

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

The gene for Machado-Joseph disease maps to human chromosome 14q

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

Huntington disease expansion mutations in humans can occur before meiosis is completed.

Segregation distortion in myotonic dystrophy.

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.

Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation.

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134-140

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scholarly article

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10.1111/CGE.12719

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Lavinia Schuler-Faccini

Maria Luiza Saraiva-Pereira

Jonas Alex Morales Saute

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2016-02-03T00:00:00Z

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26693702

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Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

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P2860

P2860

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.

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P698