(Q43288648)

18 November 2017

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients (English)

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18 November 2017

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18 November 2017

J Koht

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Clara Barbot

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C Barbot

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Paula Coutinho

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P Coutinho

30

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author name string

B Monga

2

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18 November 2017

M Fleury

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18 November 2017

P Charles

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18 November 2017

M Salih

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18 November 2017

J P Delaunoy

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18 November 2017

M Fritsch

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18 November 2017

L Arning

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18 November 2017

M Synofzik

10

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18 November 2017

L Schöls

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18 November 2017

J Sequeiros

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18 November 2017

C Goizet

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18 November 2017

C Marelli

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18 November 2017

I Le Ber

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18 November 2017

J Gazulla

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18 November 2017

J De Bleecker

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18 November 2017

M Mukhtar

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18 November 2017

N Drouot

20

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18 November 2017

L Ali-Pacha

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18 November 2017

T Benhassine

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18 November 2017

M Chbicheb

23

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18 November 2017

A M'Zahem

24

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18 November 2017

A Hamri

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18 November 2017

B Chabrol

26

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18 November 2017

J Pouget

27

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18 November 2017

R Murphy

28

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18 November 2017

M Watanabe

29

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18 November 2017

M Tazir

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18 November 2017

A Durr

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18 November 2017

A Brice

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18 November 2017

C Tranchant

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18 November 2017

M Koenig

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18 November 2017

language of work or name

English

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publication date

20 August 2009

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18 November 2017

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18 November 2017

132

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18 November 2017

Pt 10

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18 November 2017

2688-2698

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Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

18 November 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Ataxia-telangiectasia, an evolving phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

A novel mutation in SACS gene in a family from southern Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Intermittent horizontal saccade failure ('ocular motor apraxia') in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

New autosomal recessive cerebellar ataxias with oculomotor apraxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Alpha fetoprotein is increasing with age in ataxia-telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

Phenotypic variability of aprataxin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

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

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP211

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP211

1 reference

18 November 2017

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