Huntington's Disease: Relationship Between Phenotype and Genotype (Q38689609)

5 September 2017

title

Huntington's Disease: Relationship Between Phenotype and Genotype (English)

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5 September 2017

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Yi-Min Sun

1

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5 September 2017

Yan-Bin Zhang

series ordinal

2

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5 September 2017

Zhi-Ying Wu

series ordinal

3

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5 September 2017

publication date

7 January 2016

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5 September 2017

published in

Molecular Neurobiology

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5 September 2017

volume

54

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5 September 2017

issue

1

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5 September 2017

page(s)

342-348

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XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease

5 September 2017

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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

21 January 2018

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Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

21 January 2018

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Trinucleotide repeat length and progression of illness in Huntington's disease

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Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease

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Trinucleotide repeat length and clinical progression in Huntington's disease

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CAG repeat number governs the development rate of pathology in Huntington's disease

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Huntington's disease: clinical correlates of disability and progression

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The association of CAG repeat length with clinical progression in Huntington disease

21 January 2018

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The relationship between CAG repeat length and clinical progression in Huntington's disease

21 January 2018

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Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range

21 January 2018

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

21 January 2018

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Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

21 January 2018

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CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease

21 January 2018

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Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

21 January 2018

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Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications.

21 January 2018

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Huntington's disease as caused by 34 CAG repeats.

21 January 2018

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Late-onset Huntington disease with intermediate CAG repeats: true or false?

21 January 2018

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Exploring the Correlates of Intermediate CAG Repeats in Huntington Disease

21 January 2018

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Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?

21 January 2018

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Autopsy-proven Huntington's disease with 29 trinucleotide repeats

21 January 2018

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Caudate glucose hypometabolism in a subject carrying an unstable allele of intermediate CAG(33) repeat length in the Huntington's disease gene

21 January 2018

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Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.

21 January 2018

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The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene

21 January 2018

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Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

21 January 2018

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Intergeneration CAG expansion and contraction in a Chinese HD family.

21 January 2018

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

21 January 2018

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Age at onset in Huntington's disease: replication study on the association of HAP1.

21 January 2018

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PGC-1alpha as modifier of onset age in Huntington disease

21 January 2018

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Experimental basis for the putative role of GluR6/kainate glutamate receptor subunit in Huntington's disease natural history

21 January 2018

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Evidence for the GluR6 gene associated with younger onset age of Huntington's disease

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.

21 January 2018

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APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway

21 January 2018

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Apolipoprotein E and presenilin-1 genotypes in Huntington's disease

21 January 2018

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Apolipoprotein E polymorphism in Pick's disease and in Huntington's disease

21 January 2018

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A study of potential interactive genetic factors in Huntington's disease

21 January 2018

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Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease.

21 January 2018

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The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis

21 January 2018

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Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.

21 January 2018

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A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset

21 January 2018

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Polymorphism of HD and UCHL-1 genes in Huntington's disease

21 January 2018

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CNR1 variation is associated with the age at onset in Huntington disease

21 January 2018

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A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

21 January 2018

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Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Huntington's disease: the case for genetic modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Genetic modifiers of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Directional dominance on stature and cognition in diverse human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Oligoproline effects on polyglutamine conformation and aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

CCG polymorphisms in the huntingtin gene have no effect on the pathogenesis of patients with Huntington's disease in mainland Chinese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Huntington's chorea. Report of 3 cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Animal models of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Early onset Huntington disease: a neuronal degeneration syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Juvenile onset Huntington's disease--clinical and research perspectives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Homozygotes for Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

A Chinese pedigree with an individual homozygous for CAG repeats of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

21 January 2018

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Laboratory Guidelines for Huntington Disease Genetic Testing

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-015-9662-8

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

21 January 2018

1 reference

12 December 2020

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.

1 reference

12 December 2020

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes

1 reference

12 December 2020

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length.

1 reference

12 December 2020

Functional GluR6 kainate receptors in the striatum: indirect downregulation of synaptic transmission

1 reference

12 December 2020

Homozygosity in Huntington's disease

1 reference

12 December 2020

Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease

1 reference

12 December 2020

Correlations between triplet repeat expansion and clinical features in Huntington's disease

1 reference

12 December 2020

Homozygote for Huntington disease

1 reference

12 December 2020

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

1 reference

12 December 2020

Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature

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12 December 2020

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

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12 December 2020

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

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12 December 2020

10.1007/S12035-015-9662-8

Identifiers

DOI

1 reference

Dimensions Publication ID

5 September 2017

1041422228

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