(Q33904550)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

4

1 reference

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17 December 2019

Hideshi Kawakami

12

1 reference

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17 December 2019

author name string

Yuishin Izumi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Hirofumi Maruyama

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Masaya Oda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Takayuki Okada

5

1 reference

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17 December 2019

Hidefumi Ito

6

1 reference

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17 December 2019

Iwao Sasaki

7

1 reference

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17 December 2019

Hiroyasu Tanaka

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Osamu Komure

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

Fukashi Udaka

10

1 reference

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17 December 2019

Shigenobu Nakamura

11

1 reference

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17 December 2019

language of work or name

English

0 references

publication date

21 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 December 2019

published in

1 reference

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17 December 2019

volume

72

1 reference

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17 December 2019

issue

3

1 reference

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17 December 2019

page(s)

704-709

1 reference

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Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

17 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

A decade of molecular studies of fragile X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

Genetic testing in spinocerebellar ataxias: defining a clinical role

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

The unstable trinucleotide repeat story of major psychosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

SCA8 repeat expansions in ataxia: a controversial association.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180244

29 October 2018

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

Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI

1 reference

12 December 2020

[A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis]

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan

1 reference

12 December 2020

Identifiers

DOI

10.1086/367775

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12545428%20AND%20SRC:MED&resulttype=core&format=json

17 December 2019

1 reference