Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites (Q30505486)

2 October 2017

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

1 reference

2 October 2017

16

S B Bressman

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2 October 2017

15

L J Ozelius

1 reference

2 October 2017

R Saunders-Pullman

1

1 reference

2 October 2017

D Raymond

2

1 reference

2 October 2017

A J Stoessl

3

1 reference

2 October 2017

D Hobson

4

1 reference

2 October 2017

K Nakamura

5

1 reference

2 October 2017

S Pullman

6

1 reference

2 October 2017

D Lefton

7

1 reference

2 October 2017

M S Okun

8

1 reference

2 October 2017

R Uitti

9

1 reference

2 October 2017

R Sachdev

10

1 reference

2 October 2017

K Stanley

11

1 reference

2 October 2017

M San Luciano

12

1 reference

2 October 2017

J Hagenah

13

1 reference

2 October 2017

R Gatti

14

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2 October 2017

language of work or name

English

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publication date

15 February 2012

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2 October 2017

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2 October 2017

78

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2 October 2017

9

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2 October 2017

649-657

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Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Molecular pathology of ataxia telangiectasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Ataxia-telangiectasia, an evolving phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Mutations associated with variant phenotypes in ataxia-telangiectasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Neuropathologic changes in ataxia-telangiectasia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Ataxia-telangiectasia. Report of a case with Lewy bodies and vascular abnormalities within cerebral tissue

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Spiral analysis in Niemann-Pick disease type C.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Clinical spectrum of ataxia-telangiectasia in adulthood

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Hyperechogenicity of the substantia nigra in healthy controls is related to MRI changes and to neuronal loss as determined by F-Dopa PET.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Late degeneration of nigro-striatal neurons in ATM-/- mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Dystonia in ataxia telangiectasia: report of a case with putaminal lesions and decreased striatal [123I]iodobenzamide binding

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Pathological observations in ataxia-telangiectasia. A report of five cases

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Cranial CT and MRI in diseases with DNA repair defects

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286230

Validity of spiral analysis in early Parkinson's disease

26 November 2018

1 reference

12 December 2020

Ataxia-telangiectasia: without ataxia or telangiectasia?

1 reference

12 December 2020

Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations

1 reference

12 December 2020

Progressive dystonia masking ataxia in ataxia-telangiectasia

1 reference

12 December 2020

Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases

1 reference

12 December 2020

Ataxia-telangiectasia: MR and CT findings

1 reference

12 December 2020

10.1212/WNL.0B013E3182494D51

Identifiers

DOI

1 reference

2 October 2017

1 reference

2 October 2017

PubMed publication ID

22345219

1 reference