(Q40539157)

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Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin

scientific article published on August 1993

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29 October 2019

Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin (English)

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29 October 2019

Becker muscular dystrophy

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Matsumura K

1

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29 October 2019

Nonaka I

2

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29 October 2019

Tomé FM

3

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29 October 2019

Arahata K

4

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29 October 2019

Collin H

5

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29 October 2019

Leturcq F

6

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29 October 2019

Récan D

7

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29 October 2019

Kaplan JC

8

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29 October 2019

Fardeau M

9

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29 October 2019

Campbell KP

10

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29 October 2019

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1 August 1993

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29 October 2019

American Journal of Human Genetics

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29 October 2019

53

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29 October 2019

2

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29 October 2019

409-416

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29 October 2019

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=1682334

22 September 2017

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=1682334

22 September 2017

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

22 September 2017

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=1682334

22 September 2017

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=1682334

22 September 2017

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=1682334

22 September 2017

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

22 September 2017

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=1682334

22 September 2017

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=1682334

22 September 2017

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

22 September 2017

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=1682334

22 September 2017

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

22 September 2017

Binding sites involved in the interaction of actin with the N-terminal region of dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

22 September 2017

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=1682334

22 September 2017

Primary structure of dystrophin-related protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

22 September 2017

Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

22 September 2017

Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene--clinical features and diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

25 September 2017

Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

25 September 2017

Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

25 September 2017

Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

15 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=1682334

15 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=1682334

15 June 2018

Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion 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=1682334

15 June 2018

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

15 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=1682334

15 June 2018

Purification of dystrophin from skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

15 June 2018

Molecular genetic and immunological analysis of dystrophin of a young patient with X-linked muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

15 June 2018

Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

15 June 2018

Delayed expression of dystrophin on regenerating muscle from two siblings 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=1682334

15 June 2018

Expression of the N-terminal domain of dystrophin in E. coli and demonstration of binding to F-actin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682334

20 August 2018

Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328458

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/8328458

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/8328458

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/8328458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328458

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/8328458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin constitutes 5% of membrane cytoskeleton in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophin-related protein is localized to neuromuscular junctions of adult skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/8328458

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328458%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8328458%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

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