(Q33595755)

English

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups

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scholarly article

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Europe PubMed Central

28 July 2017

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups (English)

1 reference

Europe PubMed Central

28 July 2017

muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

L V Nicholson

1

1 reference

Europe PubMed Central

28 July 2017

M A Johnson

2

1 reference

Europe PubMed Central

28 July 2017

K M Bushby

3

1 reference

Europe PubMed Central

28 July 2017

D Gardner-Medwin

4

1 reference

Europe PubMed Central

28 July 2017

A Curtis

5

1 reference

Europe PubMed Central

28 July 2017

I B Ginjaar

6

1 reference

Europe PubMed Central

28 July 2017

J T den Dunnen

7

1 reference

Europe PubMed Central

28 July 2017

J L Welch

8

1 reference

Europe PubMed Central

28 July 2017

T J Butler

9

1 reference

Europe PubMed Central

28 July 2017

E Bakker

10

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 September 1993

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

30

1 reference

Europe PubMed Central

28 July 2017

9

1 reference

Europe PubMed Central

28 July 2017

728-736

1 reference

Europe PubMed Central

28 July 2017

Dystrophin expression in Duchenne patients with "in-frame" gene deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

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=1016529

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=1016529

21 June 2018

Practical stereological methods for morphometric cytology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

21 June 2018

Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

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=1016529

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=1016529

21 June 2018

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

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=1016529

21 June 2018

Duchenne muscular dystrophy in one of monozygotic twin girls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

21 June 2018

Dystrophin analysis in the diagnosis of muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

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=1016529

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=1016529

21 June 2018

Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

An autosomal transcript in skeletal muscle with homology to dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

21 June 2018

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

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=1016529

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=1016529

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=1016529

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=1016529

21 June 2018

Dystrophin analysis in the differential diagnosis of autosomal recessive muscular dystrophy of childhood and Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

21 June 2018

Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

Identification of a chromosome 6-encoded dystrophin-related protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

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=1016529

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=1016529

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=1016529

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=1016529

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=1016529

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=1016529

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=1016529

21 June 2018

Point mutations in the dystrophin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

Dystrophin or a "related protein" 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=1016529

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=1016529

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=1016529

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=1016529

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=1016529

21 June 2018

Different distributions of dystrophin and related proteins at nerve-muscle junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

21 June 2018

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

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=1016529

21 June 2018

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016529

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=1016529

21 June 2018

Variability in clinical, genetic and protein abnormalities in manifesting carriers of 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=1016529

30 October 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=1016529

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=1016529

30 October 2018

Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

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/8411067

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/8411067

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/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and incidence of Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

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/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

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/8411067

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/8411067

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/8411067

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/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

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/8411067

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/8411067

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/8411067

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/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional evaluation of Duchenne muscular dystrophy: proposal for a protocol

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

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/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411067

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/8411067

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/8411067

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/8411067

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.30.9.728

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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