(Q24533542)

4 July 2017

title

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia (English)

1 reference

spinocerebellar ataxia type 8

4 July 2017

0 references

1 reference

Mikio Shoji

11

1 reference

ORCID Public Data File 2021

author name string

Yoshio Ikeda

1

1 reference

4 July 2017

Joline C Dalton

2

1 reference

4 July 2017

Melinda L Moseley

3

1 reference

4 July 2017

Kathy L Gardner

4

1 reference

4 July 2017

Thomas D Bird

5

1 reference

4 July 2017

Tetsuo Ashizawa

6

1 reference

4 July 2017

William K Seltzer

7

1 reference

4 July 2017

Massimo Pandolfo

8

1 reference

4 July 2017

Aubrey Milunsky

9

1 reference

4 July 2017

Nicholas T Potter

10

1 reference

4 July 2017

John B Vincent

12

1 reference

4 July 2017

John W Day

13

1 reference

4 July 2017

Laura P W Ranum

14

1 reference

4 July 2017

language of work or name

English

0 references

publication date

19 May 2004

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

75

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4 July 2017

issue

1

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4 July 2017

page(s)

3-16

1 reference

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

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

A muscleblind knockout model for myotonic dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Molecular genetics of spinocerebellar ataxia type 8 (SCA8).

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Dominantly inherited, non-coding microsatellite expansion disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

SCA12: an unusual mutation leads to an unusual spinocerebellar 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=1182005

Beyond the Qs in the polyglutamine diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Deconstructing myotonic dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Glutamine repeats and neurodegeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Understanding the molecular basis of fragile X syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion 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=1182005

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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=1182005

The expanding world of trinucleotide repeats

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Do CTG expansions at the SCA8 locus cause ataxia?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

SCA8 repeat expansions in ataxia: a controversial association.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Long repeat tracts at SCA8 in major psychosis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Computer programs for multilocus haplotyping of general pedigrees.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182005

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

29 November 2018

1 reference

12 December 2020

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

Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Biomedicine. Reconstructing myotonic dystrophy

1 reference

12 December 2020

Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F422014

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/422014

1 reference

4 July 2017

1 reference

4 July 2017

1 reference