(Q35486706)

8 August 2017

Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing (English)

1 reference

8 August 2017

0 references

Ramos-Arroyo MA

1

1 reference

8 August 2017

Moreno S

series ordinal

2

1 reference

8 August 2017

Valiente A

series ordinal

3

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 March 2005

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

8 August 2017

1 reference

8 August 2017

76

1 reference

8 August 2017

3

1 reference

8 August 2017

337-342

1 reference

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Late-onset Huntington's disease: a clinical and molecular study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Huntington disease: genetics and epidemiology

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Huntington's disease in the Province of Cadiz. Epidemiological and familial study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

The epidemiology of Huntington's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Estimate of the prevalence of Huntington disease in the Valencia region using the capture-recapture method

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

Molecular diagnostic analysis for Huntington's disease: a prospective evaluation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739554

26 September 2018

Identifiers

DOI

10.1136/JNNP.2004.036806

1 reference

release_xgomg46jwraf3j635zbgpz7f2i

8 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xgomg46jwraf3j635zbgpz7f2i

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

1739554

1 reference

8 August 2017

1 reference