Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy (Q33526335)

27 July 2017

title

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

1 reference

Duchenne muscular dystrophy

27 July 2017

main subject

1 reference

inferred from title

cognitive dysfunction

1 reference

Christian Gilissen

4

0 references

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

0 references

publication date

20 January 2010

1 reference

27 July 2017

1 reference

27 July 2017

volume

5

1 reference

27 July 2017

issue

1

1 reference

27 July 2017

page(s)

e8803

1 reference

Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

20 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

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

1 reference

27 July 2017

0 references

1 reference

27 July 2017

1 reference