(Q35480115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

review article

1 reference

title

Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

spinocerebellar ataxia type 8

23 November 2019

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

Jonathan Peter Warner

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

author name string

A Zeman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

M Porteous

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

E Burns

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

L Barron

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

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:14966165%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

23 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

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)

459-465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6

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=1738991

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Close interrelation of motor development and cognitive development and of the cerebellum and prefrontal cortex.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

The cerebellar cognitive affective syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

The hospital anxiety and depression scale

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

SCA8 repeat expansions in ataxia: a controversial association.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Incoordinated thought and emotion in spinocerebellar ataxia type 8.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Long repeat tracts at SCA8 in major psychosis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

A brief cognitive test battery to differentiate Alzheimer's disease and frontotemporal dementia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Spinocerebellar ataxia type 8: clinical features in a large family.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1738991

Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan

15 November 2018

1 reference

12 December 2020

1 reference

12 December 2020

Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan

1 reference

12 December 2020

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

1 reference

12 December 2020

[Type 8 spinocerebellar ataxia. A report of a family]

1 reference

12 December 2020

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy

1 reference

12 December 2020

Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia

1 reference

12 December 2020

SCA8 in the Spanish population including one homozygous patient

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.2003.018895

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json

23 November 2019

PubMed publication ID

14966165

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14966165%20AND%20SRC:MED&resulttype=core&format=json