(Q42466838)

1 November 2017

title

Early onset Huntington disease: a neuronal degeneration syndrome (English)

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1 November 2017

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Willy Lissens

4

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author name string

Sara Seneca

1

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1 November 2017

Domique Fagnart

2

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1 November 2017

Kathelijn Keymolen

3

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1 November 2017

Daniele Hasaerts

5

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1 November 2017

Sara Debulpaep

6

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1 November 2017

Brigitte Desprechins

7

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1 November 2017

Inge Liebaers

8

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1 November 2017

Linda De Meirleir

9

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1 November 2017

publication date

1 December 2004

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European Journal of Pediatrics

1 November 2017

published in

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1 November 2017

volume

163

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1 November 2017

issue

12

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1 November 2017

page(s)

717-721

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https://scigraph.springernature.com/pub.10.1007/s00431-004-1537-3

1 November 2017

exact match

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cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-004-1537-3

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

21 January 2018

1 reference

12 December 2020

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

1 reference

12 December 2020

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

1 reference

12 December 2020

Huntington disease in children: genotype-phenotype correlation

1 reference

12 December 2020

Huntington's disease. Pathogenesis and management

1 reference

12 December 2020

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

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

Genetic testing of children at risk for Huntington's disease. US Huntington Disease Genetic Testing Group

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A general method for the detection of large CAG repeat expansions by fluorescent PCR

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease

1 reference

12 December 2020

Huntington disease expansion mutations in humans can occur before meiosis is completed

1 reference

12 December 2020

Reduced penetrance of the Huntington's disease mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.

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

Trinucleotide repeat length and clinical progression in Huntington's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Recent insights into the molecular pathogenesis of Huntington disease

1 reference

12 December 2020

The gender effect in juvenile Huntington disease patients of Italian origin

1 reference

12 December 2020

Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases

1 reference

12 December 2020

10.1007/S00431-004-1537-3

Identifiers

DOI

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1 November 2017

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