(Q34017028)

English

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Huntington's disease

0 references

Patricia Maciel

15

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Marco Constante

object named as

Marco Constante

3

0 references

Maria do Carmo Costa

object named as

Maria do Carmo Costa

1

0 references

Andreia Teixeira-Castro

object named as

Andreia Teixeira-Castro

2

0 references

object named as

Paula Coutinho

11

0 references

Jorge Sequeiros

object named as

Jorge Sequeiros

14

0 references

author name string

Marina Magalhães

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Paula Magalhães

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Joana Cerqueira

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

José Vale

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Vitorina Passão

8

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Célia Barbosa

9

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Conceição Robalo

10

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

José Barros

12

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Manuela M Santos

13

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

publication date

21 July 2006

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

51

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

645-651

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

https://scigraph.springernature.com/pub.10.1007/s10038-006-0001-9

0 references

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Huntington disease phenocopy is a familial prion disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

CREB-binding protein sequestration by expanded polyglutamine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Characterization of human junctophilin subtype genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Southern transfer protocol for confirmation of Huntington disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Huntington disease without CAG expansion: phenocopies or errors in assignment?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

5 July 2018

Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

SCA17 homozygote showing Huntington's disease-like phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2909272

29 October 2018

Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity

1 reference

https://pubmed.ncbi.nlm.nih.gov/16858508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/16858508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-006-0001-9

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

0 references

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