Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin (Q39337845)

11 September 2017

title

Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin (English)

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Huntington disease-like 2

11 September 2017

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Irene Paradisi

1

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Vassiliki Ikonomu

series ordinal

2

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Sergio Arias

series ordinal

3

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publication date

13 September 2012

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Journal of Human Genetics

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language of work

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volume

58

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issue

1

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page(s)

3-6

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Huntington disease phenocopy is a familial prion disease

11 September 2017

cites work

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https://api.crossref.org/works/10.1038%2FJHG.2012.111

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

SCA17 homozygote showing Huntington's disease-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Huntington's Disease-like 2 (HDL2) in North America and Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

A private allele ubiquitous in the Americas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

A comparison of huntington disease and huntington disease-like 2 neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Huntington's disease phenocopies are clinically and genetically heterogeneous

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2012.111

Huntington disease-like 2: the first patient with apparent European ancestry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.111

Gender differences in ancestral contribution and admixture in Venezuelan populations

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2012.111

21 January 2018

Identifiers

DOI

10.1038/JHG.2012.111

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11 September 2017

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