(Q34295566)

1 August 2017

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. (English)

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1 August 2017

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26

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Paula Coutinho

Paula Coutinho

30

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Jorge Sequeiros

Jorge Sequeiros

31

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Giovanni Stevanin

Giovanni Stevanin

25

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Jörg B. Schulz

Jörg B Schulz

12

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Eimear Dunne

Eimear Dunne

21

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Clara Barbot

Clara Barbot

29

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Christine Tranchant

Christine Tranchant

7

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Alexandra Durr

32

Alexandra Dürr

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1 August 2017

19

Christopher E Shaw

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1 August 2017

13

Jean Pouget

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1 August 2017

14

Patrick Calvas

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1 August 2017

5

Isabelle Le Ber

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1 August 2017

11

Massimo Pandolfo

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1 August 2017

9

Meriem Tazir

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1 August 2017

23

Traki Benhassine

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1 August 2017

24

Naïma Bouslam

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1 August 2017

34

Michel Koenig

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1 August 2017

Maria-Céu Moreira

1

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1 August 2017

Sandra Klur

2

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1 August 2017

Mitsunori Watanabe

3

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1 August 2017

Andrea H Németh

4

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1 August 2017

José-Carlos Moniz

6

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1 August 2017

Patrick Aubourg

8

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1 August 2017

Lüdger Schöls

10

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1 August 2017

Masami Shizuka-Ikeda

15

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Mikio Shoji

16

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Makoto Tanaka

17

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Louise Izatt

18

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Abderrahim M'Zahem

20

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Pascale Bomont

22

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João Guimarães

27

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Pedro Mendonça

28

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Jean-Marie Warter

33

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1 August 2017

language of work or name

English

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publication date

8 February 2004

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1 August 2017

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36

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1 August 2017

225-227

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3

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https://scigraph.springernature.com/pub.10.1038/ng1303

1 August 2017

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cites work

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.

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Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.

21 January 2018

1 reference

21 January 2018

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

21 January 2018

1 reference

Helicases: amino acid sequence comparisons and structure-function relationships

21 January 2018

1 reference

The yeast SEN1 gene is required for the processing of diverse RNA classes

21 January 2018

1 reference

The putative nucleic acid helicase Sen1p is required for formation and stability of termini and for maximal rates of synthesis and levels of accumulation of small nucleolar RNAs in Saccharomyces cerevisiae

21 January 2018

1 reference

The sen1(+) gene of Schizosaccharomyces pombe, a homologue of budding yeast SEN1, encodes an RNA and DNA helicase

21 January 2018

1 reference

The role of Upf proteins in modulating the translation read-through of nonsense-containing transcripts

21 January 2018

1 reference

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

21 January 2018

1 reference

Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.

21 January 2018

1 reference

Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences

21 January 2018

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

21 January 2018

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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG1303

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1 August 2017

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