(Q35479676)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966163%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

title

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India (English)

1 reference

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23 November 2019

0 references

1 reference

7

1 reference

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23 November 2019

8

M G Sweeney

1 reference

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23 November 2019

author name string

K K Sinha

1

1 reference

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23 November 2019

P F Worth

2

1 reference

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23 November 2019

D K Jha

3

1 reference

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23 November 2019

S Sinha

4

1 reference

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23 November 2019

V J Stinton

5

1 reference

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23 November 2019

M B Davis

6

1 reference

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23 November 2019

K P Bhatia

9

1 reference

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23 November 2019

language of work or name

English

0 references

publication date

1 March 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966163%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

23 November 2019

published in

1 reference

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23 November 2019

volume

75

1 reference

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23 November 2019

issue

3

1 reference

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23 November 2019

page(s)

448-452

1 reference

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Linkage disequilibrium at the SCA2 locus

23 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

Epidemiology and clinical aspects of Machado-Joseph disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

Joseph disease: an autosomal dominant motor system degeneration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

Machado-Joseph disease: an autosomal dominant motor system degeneration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738947

A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin

26 September 2018

1 reference

12 December 2020

Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India

1 reference

12 December 2020

Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12

1 reference

12 December 2020

Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2002.004895

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966163%20AND%20SRC:MED&resulttype=core&format=json

release_4cjzj3qy6zebbnogswnd5bhqse

23 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4cjzj3qy6zebbnogswnd5bhqse

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966163%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

PubMed publication ID

14966163

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966163%20AND%20SRC:MED&resulttype=core&format=json