(Q42034899)

15 October 2017

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n (English)

1 reference

spinocerebellar ataxia type 31

15 October 2017

1 reference

9

1 reference

15 October 2017

1

Nozomu Sato

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author name string

Takeshi Amino

2

1 reference

15 October 2017

Kazuhiro Kobayashi

3

1 reference

15 October 2017

Shuichi Asakawa

4

1 reference

15 October 2017

Taro Ishiguro

5

1 reference

15 October 2017

Taiji Tsunemi

6

1 reference

15 October 2017

Makoto Takahashi

7

1 reference

15 October 2017

Tohru Matsuura

8

1 reference

15 October 2017

Sawa Iwasaki

10

1 reference

15 October 2017

Fumitoshi Ishino

11

1 reference

15 October 2017

Yuko Saito

12

1 reference

15 October 2017

Shigeo Murayama

13

1 reference

15 October 2017

Mari Yoshida

14

1 reference

15 October 2017

Yoshio Hashizume

15

1 reference

15 October 2017

Yuji Takahashi

16

1 reference

15 October 2017

Shoji Tsuji

17

1 reference

15 October 2017

Nobuyoshi Shimizu

18

1 reference

15 October 2017

Tatsushi Toda

19

1 reference

15 October 2017

Kinya Ishikawa

20

1 reference

15 October 2017

Hidehiro Mizusawa

21

1 reference

15 October 2017

language of work or name

English

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publication date

29 October 2009

1 reference

American Journal of Human Genetics

15 October 2017

1 reference

15 October 2017

85

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15 October 2017

5

1 reference

15 October 2017

544-557

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

15 October 2017

1 reference

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Temporal requirement of the alternative-splicing factor Sfrs1 for the survival of retinal neurons.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Transcription of Satellite III non-coding RNAs is a general stress response in human cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Altered expressions of the noncoding hsromega gene enhances poly-Q-induced neurotoxicity in Drosophila

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Human sat III and Drosophila hsr omega transcripts: a common paradigm for regulation of nuclear RNA processing in stressed cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

RNA-mediated neuromuscular disorders

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Structural and functional characterization of noncoding repetitive RNAs transcribed in stressed human cells

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

RNA recognition motif 2 directs the recruitment of SF2/ASF to nuclear stress bodies

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Transcriptional activation of a constitutive heterochromatic domain of the human genome in response to heat shock.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

The contribution of <i>cis</i>-elements to disease-associated repeat instability: clinical and experimental evidence

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Glutamine repeats and neurodegeneration

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

The DNA sequence of human chromosome 21

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Functional characterization of SR and SR-related genes in Caenorhabditis elegans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Human BAC library: construction and rapid screening

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Standardized nomenclature for Alu repeats.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Highly conserved repetitive DNA sequences are present at human centromeres

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Yet another spinocerebellar ataxia: the saga continues

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Huntington's disease--like 2 is associated with CUG repeat-containing RNA foci.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

Protein composition of the intranuclear inclusions of FXTAS.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775824

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

17 August 2018

1 reference

12 December 2020

Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic

1 reference

12 December 2020

Analyses of copy number and mRNA expression level of the alpha-synuclein gene in multiple system atrophy

1 reference

12 December 2020

A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

1 reference

12 December 2020

Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan

1 reference

12 December 2020

10.1016/J.AJHG.2009.09.019

Identifiers

DOI

1 reference

15 October 2017

1 reference

15 October 2017

1 reference