(Q39246418)

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17 February 2020

title

Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia (English)

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17 February 2020

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8

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17 February 2020

author name string

Paul F Worth

1

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17 February 2020

Venkataramanan Srinivasan

2

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17 February 2020

Anna Smith

3

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17 February 2020

James I Last

4

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17 February 2020

Laura L Wootton

5

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17 February 2020

Paul M Biggs

6

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17 February 2020

Nicholas P Davies

7

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17 February 2020

Philip J Byrd

9

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17 February 2020

A Malcolm R Taylor

10

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17 February 2020

language of work or name

English

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publication date

9 November 2012

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17 February 2020

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17 February 2020

volume

28

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17 February 2020

issue

4

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17 February 2020

page(s)

524-528

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Quantitative neurologic assessment of ataxia-telangiectasia

17 February 2020

cites work

1 reference

Ocular manifestations of ataxia-telangiectasia

21 January 2018

1 reference

Survival probability in ataxia telangiectasia.

21 January 2018

1 reference

Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity

21 January 2018

1 reference

Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia

21 January 2018

1 reference

Clinical spectrum of ataxia-telangiectasia in adulthood

21 January 2018

1 reference

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

21 January 2018

1 reference

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

21 January 2018

1 reference

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

21 January 2018

1 reference

Immunodeficiency and infections in ataxia-telangiectasia.

21 January 2018

1 reference

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

21 January 2018

1 reference

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

21 January 2018

1 reference

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder

21 January 2018

1 reference

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

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia

21 January 2018

1 reference

Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia

21 January 2018

1 reference

Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.

21 January 2018

1 reference

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

21 January 2018

1 reference

Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.25236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23143971%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

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