(Q41443029)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

Maria Luiza Saraiva-Pereira

18 February 2020

author

10

1 reference

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18 February 2020

Anelyssa D'Abreu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

Claudia Vianna Maurer-Morelli

18 February 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Rodrigo Secolin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Iscia Lopes-Cendes

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

9

Laura Bannach Jardim

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

author name string

Marcondes C França

1

1 reference

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18 February 2020

Vanessa E Emmel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Luciana Cardoso Bonadia

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Marilza Santos da Silva

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Anamarli Nucci

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

Wilson Marques

11

1 reference

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18 February 2020

Henry Paulson

12

1 reference

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18 February 2020

publication date

19 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

published in

Frontiers in Neurology

1 reference

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18 February 2020

volume

3

1 reference

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18 February 2020

page(s)

164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

18 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

PolyQ-expanded ataxin-3 interacts with full-length ataxin-3 in a polyQ length-dependent manner

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease).

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Trinucleotide Repeat Disorders

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Normal-repeat-length polyglutamine peptides accelerate aggregation nucleation and cytotoxicity of expanded polyglutamine proteins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

A haplotype map of the human genome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Trinucleotide repeats and neurodegenerative disease.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Haploview: analysis and visualization of LD and haplotype maps

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Correlation between CAG repeat length and clinical features in Machado-Joseph disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500826

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23181052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FNEUR.2012.00164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

PubMed publication ID

23181052

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23181052%20AND%20SRC:MED&resulttype=core&format=json