Ataxia-telangiectasia: diagnosis and treatment (Q35599431)

9 August 2017

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title

Ataxia-telangiectasia: diagnosis and treatment (English)

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9 August 2017

1

Susan Perlman

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9 August 2017

Sara Becker-Catania

2

1 reference

PubMed ID

14653405

9 August 2017

Richard A Gatti

series ordinal

3

1 reference

9 August 2017

1 September 2003

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Seminars in pediatric neurology

9 August 2017

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9 August 2017

10

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9 August 2017

3

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9 August 2017

173-182

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Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis

9 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

The inherited basis of human radiosensitivity

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Activation of the ATM kinase by ionizing radiation and phosphorylation of p53

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Enhanced phosphorylation of p53 by ATM in response to DNA damage

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

A new type of mutation causes a splicing defect in ATM.

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Heterozygous ATM mutations do not contribute to early onset of breast cancer

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Global analysis of ATM polymorphism reveals significant functional constraint

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs.

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status.

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Occurrence of malignancy in immunodeficiency diseases. A literature review

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Mortality rates among carriers of ataxia-telangiectasia mutant alleles

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Incidence of cancer in 161 families affected by ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Dominant Negative ATM Mutations in Breast Cancer Families

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

ATM heterozygosity and cancer risk

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Atm-deficient mice: a paradigm of ataxia telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Buspirone, a 5-hydroxytryptamine1A agonist, is active in cerebellar ataxia. Results of a double-blind drug placebo study in patients with cerebellar cortical atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Serotonin, fluoxetine, and pseudobulbar affect

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Measuring ataxia: quantification based on the standard neurological examination

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Disability and quality of life in hereditary ataxias: a self-administered postal questionnaire

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Quantitative neurologic assessment of ataxia-telangiectasia

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

ATM deficiency and oxidative stress: a new dimension of defective response to DNA damage

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Ataxia-telangiectasia: chronic activation of damage-responsive functions is reduced by alpha-lipoic acid

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Friedreich's ataxia: idebenone treatment in early stage patients

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

Phenotypic variability of aprataxin gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2803%2900026-3

7 January 2021

10.1016/S1071-9091(03)00026-3

Identifiers

DOI

1 reference

9 August 2017

1 reference

PubMed ID

14653405