(Q40181792)

English

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

scientific article published on 23 December 2015

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scholarly article

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3 March 2020

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

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3 March 2020

spinocerebellar ataxia

1 reference

based on heuristic

inferred from title

Lavinia Schuler-Faccini

9

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3 March 2020

Jonas Alex Morales Saute

8

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Maria Luiza Saraiva-Pereira

11

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author name string

G N Souza

1

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N Kersting

2

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A C Krum-Santos

3

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A S P Santos

4

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G V Furtado

5

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D Pacheco

6

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T A Gonçalves

7

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E P Mattos

10

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L B Jardim

12

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publication date

3 February 2016

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Clinical Genetics

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90

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2

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134-140

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3 March 2020

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Transmission distortion of the mutant alleles in spinocerebellar ataxia.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Segregation distortion in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Factors associated with HD CAG repeat instability in Huntington disease

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12719

21 January 2018

Identifiers

10.1111/CGE.12719

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26693702%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

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3 March 2020

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