TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing (Q34151711)

31 July 2017

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

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31 July 2017

Jun Ling Wang

Jun Wang

1

19

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author name string

Xu Yang

2

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31 July 2017

Kun Xia

3

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31 July 2017

Zheng Mao Hu

4

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31 July 2017

Ling Weng

5

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31 July 2017

Xin Jin

6

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31 July 2017

Hong Jiang

7

1 reference

31 July 2017

Peng Zhang

8

1 reference

31 July 2017

Lu Shen

9

1 reference

31 July 2017

Ji Feng Guo

10

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31 July 2017

Nan Li

11

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31 July 2017

Ying Rui Li

12

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31 July 2017

Li Fang Lei

13

1 reference

31 July 2017

Jie Zhou

14

1 reference

31 July 2017

Juan Du

15

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31 July 2017

Ya Fang Zhou

16

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31 July 2017

Qian Pan

17

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31 July 2017

Jian Wang

18

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31 July 2017

Rui Qiang Li

20

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31 July 2017

Bei Sha Tang

21

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31 July 2017

language of work or name

English

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publication date

23 November 2010

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31 July 2017

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31 July 2017

133

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31 July 2017

Pt 12

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31 July 2017

3510-3518

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McKusick's Online Mendelian Inheritance in Man (OMIM)

31 July 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Anti transglutaminase antibodies cause ataxia in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Transglutaminase activation in neurodegenerative diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Transglutaminases and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Differential expression of multiple transglutaminases in human brain. Increased expression and cross-linking by transglutaminases 1 and 2 in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

SOAP: short oligonucleotide alignment program

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

De novo assembly of human genomes with massively parallel short read sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Human-mouse alignments with BLASTZ

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Prediction of deleterious human alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Sporadic ataxias in Japan--a population-based epidemiological study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

Reliability and validity of the scale for the assessment and rating of ataxia: a study in 64 ataxia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ323

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWQ323

1 reference

31 July 2017

1 reference