Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients (Q33595762)

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 July 2017

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

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Europe PubMed Central

PubMed publication ID

28 July 2017

muscular dystrophy

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based on heuristic

inferred from title

author name string

L V Nicholson

1

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Europe PubMed Central

PubMed publication ID

28 July 2017

M A Johnson

2

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28 July 2017

K M Bushby

3

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Europe PubMed Central

PubMed publication ID

28 July 2017

D Gardner-Medwin

4

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Europe PubMed Central

PubMed publication ID

28 July 2017

A Curtis

5

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Europe PubMed Central

PubMed publication ID

28 July 2017

I B Ginjaar

6

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Europe PubMed Central

PubMed publication ID

28 July 2017

J T den Dunnen

7

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Europe PubMed Central

PubMed publication ID

28 July 2017

J L Welch

8

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Europe PubMed Central

PubMed publication ID

28 July 2017

T J Butler

9

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28 July 2017

E Bakker

10

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28 July 2017

language of work or name

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publication date

1 September 1993

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Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

28 July 2017

30

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Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

737-744

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Europe PubMed Central

PubMed publication ID

28 July 2017

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

The diagnosis of muscular dystrophy in patients referred for language delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Duchenne muscular dystrophy gene product is not identical in muscle and brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Dystrophin gene transcribed from different promoters in neuronal and glial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Becker muscular dystrophy: correlation of deletion type with clinical severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Specificity of expression of the muscle and brain dystrophin gene promoters in muscle and brain cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Somatic reversion/suppression of the mouse mdx phenotype in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Sequences of junction fragments in the deletion-prone region of the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Dystrophin is transcribed in brain from a distant upstream promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Human dystrophin gene transfer: production and expression of a functional recombinant DNA-based gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Mapping of dystrophin brain promoter: A deletion of this region is compatible with normal intellect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Dystrophin in frameshift deletion patients with Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

A transposon-like element in the deletion-prone region of the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

21 June 2018

Analysis of verbal disability in Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

30 October 2018

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016530

30 October 2018

Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Additional dystrophin fragment in Becker muscular dystrophy patients: correlation with the pattern of DNA deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differences between verbal and performance IQs on the Wechsler Intelligence Scale for Children

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The standardization of the Wechsler intelligence scale for children

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intellect and Behaviour in Duchenne Muscular Dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic abnormalities in Duchenne and Becker dystrophies: clinical correlations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is dystrophin labelling always discontinuous in Becker muscular dystrophy?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Head circumference and intellectual performance of patients with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retroviral-mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411068

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.30.9.737

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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