Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement (Q35103825)

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English	Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement	scientific article

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scholarly article

1 reference

Europe PubMed Central

6 August 2017

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement (English)

1 reference

Europe PubMed Central

6 August 2017

spinocerebellar ataxia

1 reference

based on heuristic

inferred from title

author name string

Hatasu Kobayashi

1

1 reference

Europe PubMed Central

6 August 2017

Koji Abe

2

1 reference

Europe PubMed Central

6 August 2017

Tohru Matsuura

3

1 reference

Europe PubMed Central

6 August 2017

Yoshio Ikeda

4

1 reference

Europe PubMed Central

6 August 2017

Toshiaki Hitomi

5

1 reference

Europe PubMed Central

6 August 2017

Yuji Akechi

6

1 reference

Europe PubMed Central

6 August 2017

Toshiyuki Habu

7

1 reference

Europe PubMed Central

6 August 2017

Wanyang Liu

8

1 reference

Europe PubMed Central

6 August 2017

Hiroko Okuda

9

1 reference

Europe PubMed Central

6 August 2017

Akio Koizumi

10

1 reference

Europe PubMed Central

6 August 2017

language of work or name

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publication date

16 June 2011

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Europe PubMed Central

6 August 2017

American Journal of Human Genetics

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Europe PubMed Central

6 August 2017

89

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Europe PubMed Central

6 August 2017

121-130

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Europe PubMed Central

6 August 2017

1

1 reference

Europe PubMed Central

6 August 2017

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

1 reference

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Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

1 reference

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Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10

1 reference

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Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients

1 reference

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RNA-mediated neurodegeneration in repeat expansion disorders

1 reference

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Understanding microRNAs in neurodegeneration

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Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

1 reference

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9 July 2018

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

1 reference

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RNA gain-of-function in spinocerebellar ataxia type 8.

1 reference

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9 July 2018

Alterations of the microRNA network cause neurodegenerative disease.

1 reference

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Many roads to maturity: microRNA biogenesis pathways and their regulation

1 reference

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The spliceosome: design principles of a dynamic RNP machine

1 reference

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A developmental view of microRNA function

1 reference

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9 July 2018

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3135815

9 July 2018

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

1 reference

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9 July 2018

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

1 reference

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9 July 2018

A general method for the detection of large CAG repeat expansions by fluorescent PCR

1 reference

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9 July 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

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9 July 2018

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

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9 July 2018

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

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Zinc pre-treatment enhances NMDAR-mediated excitotoxicity in cultured cortical neurons from SOD1(G93A) mouse, a model of amyotrophic lateral sclerosis.

1 reference

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27 September 2018

Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs.

1 reference

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27 September 2018

Calcium mediated excitotoxicity in neurofilament aggregate-bearing neurons in vitro is NMDA receptor dependant.

1 reference

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27 September 2018

Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10

1 reference

https://pubmed.ncbi.nlm.nih.gov/21683323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21683323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.05.015

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

1 reference

Europe PubMed Central

6 August 2017

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