Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. (Q24540127)

6 July 2017

title

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. (English)

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6 July 2017

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spinocerebellar ataxia

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Zu L

1

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6 July 2017

Figueroa KP

series ordinal

2

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6 July 2017

Grewal R

series ordinal

3

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6 July 2017

Pulst SM

series ordinal

4

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6 July 2017

language of work or name

English

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publication date

1 February 1999

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American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

64

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6 July 2017

issue

2

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6 July 2017

page(s)

594-599

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

6 July 2017

cites work

1 reference

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

24 March 2017

1 reference

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Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1

24 March 2017

1 reference

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Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes?

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

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

24 March 2017

1 reference

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Easy calculations of lod scores and genetic risks on small computers

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Direct detection of novel expanded trinucleotide repeats in the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377770

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9973298

12 December 2020

inferred from PubMed ID database lookup

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9973298

12 December 2020

inferred from PubMed ID database lookup

The problem of anticipation in pedigrees of dystrophia myotonica

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302247

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302247

1 reference

release_kddyvihsbze2do4ritzu52h72u

6 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kddyvihsbze2do4ritzu52h72u

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1377770

1 reference

6 July 2017

1 reference