Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q37027343

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Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells Longitudinal Psychiatric Symptoms in Prodromal Huntington's Disease: A Decade of Data.Molecular interaction between the chaperone Hsc70 and the N-terminal flank of huntingtin exon 1 modulates aggregation Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results.Prospects for neuroprotective therapies in prodromal Huntington's disease.Huntington's Disease: Relationship Between Phenotype and Genotype.What do we know about Late Onset Huntington's Disease?Clinical utility gene card for: Huntington's disease.Induced Pluripotent Stem Cells in Huntington's Disease Research: Progress and Opportunity.Phenotype Characterization of HD Intermediate Alleles in PREDICT-HD.CAG repeat size in Huntingtin alleles is associated with cancer prognosis.Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?Neurodegenerative disease: 'fifty shades of grey' in the Huntington disease gene.Participants at the Leiden Site of the REGISTRY Study: A Demographic Approach.Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls.Factors influencing the clinical expression of intermediate CAG repeat length mutations of the Huntington's disease gene.Huntingtin gene repeat size variations affect risk of lifetime depression.Whole-brain connectivity in a large study of Huntington's disease gene mutation carriers and healthy controls.Co-occurring frontal variant Alzheimer's dementia and carrier of Huntington's disease allele with reduced penetrance.

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

http://www.wikidata.org/entity/Q37027343

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 26 April 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

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

@en

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

@nl

type

label

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

@en

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

@nl

prefLabel

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

@en

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

@nl

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

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P2093

Anne B Young

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Annie Killoran

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David Oakes

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Elise Kayson

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Ira Shoulson

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Kevin M Biglan

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Shirley Eberly

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P2860

The fragile-X premutation: a maturing perspective.

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

CGG repeat in the FMR1 gene: size matters

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

Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?

Trinucleotide repeat length instability and age of onset in Huntington's disease.

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

Neuropsychiatric aspects of Huntington's disease.

Technical standards and guidelines for Huntington disease testing.

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.

P304

2022-2027

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scholarly article

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10.1212/WNL.0B013E318294B304

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22

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Joseph Jankovic

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2013-04-26T00:00:00Z

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23624566

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Huntington disease

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3716408

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