CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup (Q24644358)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

0 references

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Stefanie Butland

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

9

Thomas J Hudson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Michael R Hayden

10

0 references

Alexandre Montpetit

2

object named as

Alexandre Montpetit

1 reference

22 January 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

Simon C Warby

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Anna R Hayden

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Henk Visscher

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Jennifer A Collins

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Alicia Semaka

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

English

0 references

publication date

26 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

number of pages

16

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

351-366

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

A second generation human haplotype map of over 3.1 million SNPs

22 January 2020

cites work

1 reference

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An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population

7 April 2017

1 reference

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A haplotype map of the human genome

7 April 2017

1 reference

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Haploview: analysis and visualization of LD and haplotype maps

7 April 2017

1 reference

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MEGA3: Integrated software for Molecular Evolutionary Genetics Analysis and sequence alignment

7 April 2017

1 reference

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The structure of haplotype blocks in the human genome

7 April 2017

1 reference

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7 April 2017

1 reference

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Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

7 April 2017

1 reference

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Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

7 April 2017

1 reference

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Inactivation of the mouse Huntington's disease gene homolog Hdh

7 April 2017

1 reference

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Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

7 April 2017

1 reference

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Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease

7 April 2017

1 reference

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Whole-genome patterns of common DNA variation in three human populations

7 April 2017

1 reference

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Linkage disequilibrium in the human genome

7 April 2017

1 reference

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Allele-specific silencing of mutant Huntington's disease gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

AAV vector-mediated RNAi of mutant huntingtin expression is neuroprotective in a novel genetic rat model of Huntington's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Huntington's disease: genetic heterogeneity in black African patients.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral deficits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Silencing polyglutamine degeneration with RNAi

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Repeat instability: mechanisms of dynamic mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Clinico-pathological rescue of a model mouse of Huntington's disease by siRNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Intrastriatal rAAV-mediated delivery of anti-huntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Loss of normal huntingtin function: new developments in Huntington's disease research

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Triplet repeats form secondary structures that escape DNA repair in yeast

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Origins and evolution of Huntington disease chromosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

The epidemiology of Huntington's disease in Northern Ireland

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Huntington disease in Maryland: clinical aspects of racial variation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Huntington's disease in Chinese: a hypothesis of its origin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Geographical distribution of haplotypes in Swedish families with Huntington's disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Convergent Myotonie Dystrophy (DM) Haplotypes: Potential Inconsistencies in Human Disease Gene Localization

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Low prevalence of Huntington's disease in Finland

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

rAAV-mediated shRNA ameliorated neuropathology in Huntington disease model mouse

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Wild-type huntingtin protects neurons from excitotoxicity

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Late-onset and typical Huntington disease families from Crete have distinct genetic origins

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

DNA stability and schizophrenia in twins

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Population genetic study of Huntington's disease--prevalence and founder's effect in the San-in area, western Japan

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Huntington's disease confirmed by genetic testing in five African families

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Huntington's disease in Hong Kong Chinese: epidemiology and clinical picture

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

The prevalence of Huntington's chorea in South Africa

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668007

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

28 November 2018

1 reference

12 December 2020

1 reference

12 December 2020

Origin of the expansion mutation in myotonic dystrophy

1 reference

12 December 2020

Transferability of tag SNPs to capture common genetic variation in DNA repair genes across multiple populations

1 reference

12 December 2020

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

1 reference

12 December 2020

Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis

1 reference

12 December 2020

Effect of CAT or AGG interruptions and CpG methylation on nucleosome assembly upon trinucleotide repeats on spinocerebellar ataxia, type 1 and fragile X syndrome

1 reference

12 December 2020

SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery

1 reference

12 December 2020

Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17

1 reference

12 December 2020

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2009.02.003

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2009.02.003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19249009%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

19249009

1 reference