(Q41148958)

27 September 2017

title

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent (English)

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27 September 2017

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Irene Paradisi

1

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27 September 2017

Vassiliki Ikonomu

series ordinal

2

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27 September 2017

Sergio Arias

series ordinal

3

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27 September 2017

language of work or name

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5 November 2015

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Journal of Human Genetics

27 September 2017

published in

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27 September 2017

volume

61

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27 September 2017

issue

3

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27 September 2017

page(s)

215-222

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Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.

27 September 2017

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Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings.

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Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

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Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

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Clinical features of SCA36: a novel spinocerebellar ataxia with motor neuron involvement (Asidan).

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'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

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Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

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Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

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

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Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)

21 January 2018

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Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

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High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia

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SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias

21 January 2018

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Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study

21 January 2018

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Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations

21 January 2018

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Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

The Origin of Amerindians and the Peopling of the Americas According to HLA Genes: Admixture with Asian and Pacific People

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2015.131

Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia

21 January 2018

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12 December 2020

Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

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12 December 2020

Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics

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12 December 2020

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia

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12 December 2020

Identifiers

DOI

10.1038/JHG.2015.131

1 reference

27 September 2017

1 reference