(Q33526335)

27 July 2017

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy (English)

1 reference

Duchenne muscular dystrophy

27 July 2017

1 reference

inferred from title

cognitive dysfunction

1 reference

Christian Gilissen

4

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author name string

Peter J Taylor

1

1 reference

27 July 2017

Grant A Betts

2

1 reference

27 July 2017

Sarah Maroulis

3

1 reference

27 July 2017

Robyn L Pedersen

5

1 reference

27 July 2017

David R Mowat

6

1 reference

27 July 2017

Heather M Johnston

7

1 reference

27 July 2017

Michael F Buckley

8

1 reference

27 July 2017

language of work or name

English

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publication date

20 January 2010

1 reference

27 July 2017

1 reference

27 July 2017

5

1 reference

27 July 2017

e8803

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27 July 2017

1

1 reference

Creative Commons Attribution 4.0 International

27 July 2017

start time

20 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Verbal and memory skills in males with Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Association between intellectual functioning and age in children and young adults with Duchenne muscular dystrophy: further results from a meta-analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of duchenne muscular dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Poor verbal working memory across intellectual level in boys with Duchenne dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of duchenne muscular dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Cognitive impairment in Duchenne muscular dystrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Identification and characterization of the dystrophin anchoring site on beta-dystroglycan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Familial studies of intelligence: a review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Intelligence and the gene for Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Evidence of early impairment of verbal intelligence in Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Downward shift in IQ in persons with Duchenne muscular dystrophy compared to those with spinal muscular atrophy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Early development of boys with Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Cognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Cognitive and psychological profile of males with Becker muscular dystrophy

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

The role of utrophin and Dp71 for assembly of different dystrophin-associated protein complexes (DPCs) in the choroid plexus and microvasculature of the brain.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Deletion status and intellectual impairment in Duchenne muscular dystrophy.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

Neuropsychological impairment in Duchenne muscular dystrophy.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808359

The psychosocial factors in muscular dystrophy

31 October 2018

1 reference

12 December 2020

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

1 reference

12 December 2020

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening

1 reference

12 December 2020

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

1 reference

12 December 2020

Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients

1 reference

12 December 2020

Early verbal disability in children with Duchenne muscular dystrophy

1 reference

12 December 2020

Intellect and Behaviour in Duchenne Muscular Dystrophy

1 reference

12 December 2020

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy

1 reference

12 December 2020

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities

1 reference

12 December 2020

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients

1 reference

12 December 2020

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus

1 reference

12 December 2020

Apo-dystrophins (Dp140 and Dp71) and dystrophin splicing isoforms in developing brain

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0008803

Identifiers

DOI

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27 July 2017

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27 July 2017

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