Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume (Q57083854)

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25 January 2020

title

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

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25 January 2020

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juvenile Huntington disease

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1

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25 January 2020

Didier Devys

2

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Didier Hannequin

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25 January 2020

author name string

Alice Goldenberg

3

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25 January 2020

David Maltête

4

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25 January 2020

Catherine Hervé

5

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Lucie Guyant-Maréchal

7

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language of work or name

English

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publication date

15 March 2011

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American Journal of Medical Genetics

25 January 2020

published in

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volume

155A

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issue

4

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page(s)

815-818

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Weight loss in Huntington disease increases with higher CAG repeat number

25 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease

21 January 2018

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The gender effect in juvenile Huntington disease patients of Italian origin

21 January 2018

1 reference

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Acute hepatitis B infection after vaccination

21 January 2018

1 reference

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In vivo evidence of cerebellar atrophy and cerebral white matter loss in Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Chorea Huntington: a rare case with childhood onset

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Severity of cognitive impairment in juvenile and late-onset Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Huntington's disease genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

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/10.1002%2FAJMG.A.33911

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Huntington disease in children: genotype-phenotype correlation

21 January 2018

1 reference

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MR-spectroscopic findings in juvenile-onset Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Longitudinal analysis of regional grey matter loss in Huntington disease: effects of the length of the expanded CAG repeat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Early onset Huntington disease: a neuronal degeneration syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Highly disabling cerebellar presentation in Huntington disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

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/10.1002%2FAJMG.A.33911

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

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Unusual early-onset Huntingtons disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Excessive blinking as an initial manifestation of juvenile Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Speech and language delay are early manifestations of juvenile-onset Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33911

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33911

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412977%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

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