(Q35606737)

9 August 2017

title

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials (English)

1 reference

Becker muscular dystrophy

9 August 2017

main subject

1 reference

inferred from title

author

Annemieke Aartsma-Rus

11

Virginia Arechavala-Gomeza

Annemieke Aartsma-Rus

0 references

6

Virginia Arechavala-Gomeza

0 references

Volker Straub

14

Volker Straub

1 reference

9 August 2017

Karen Anthony

1

0 references

Giorgio Tasca

Giorgio Tasca

4

0 references

Enzo Ricci

Enzo Ricci

17

0 references

Jan J Verschuuren

Jan J Verschuuren

10

1 reference

ORCID Public Data File 2021

Sebahattin Çırak

2

Sebahattin Cirak

1 reference

9 August 2017

8

Michela Guglieri

1 reference

9 August 2017

5

Lucy Feng

1 reference

9 August 2017

3

Silvia Torelli

1 reference

9 August 2017

15

Caroline Sewry

1 reference

9 August 2017

13

Katherine Bushby

1 reference

9 August 2017

19

Francesco Muntoni

1 reference

9 August 2017

7

Annarita Armaroli

1 reference

9 August 2017

16

Alessandra Ferlini

1 reference

9 August 2017

Chiara S Straathof

9

1 reference

9 August 2017

Paula Helderman-van den Enden

12

1 reference

9 August 2017

Jennifer E Morgan

18

1 reference

9 August 2017

language of work or name

English

0 references

publication date

18 November 2011

1 reference

9 August 2017

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9 August 2017

volume

134

1 reference

9 August 2017

issue

Pt 12

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9 August 2017

page(s)

3547-3559

1 reference

describes a project that uses

9 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3235564/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Internal deletion compromises the stability of dystrophin

12 July 2018

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12 July 2018

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12 July 2018

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miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy

12 July 2018

1 reference

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SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

12 July 2018

1 reference

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12 July 2018

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Exon-skipped dystrophins for treatment of Duchenne muscular dystrophy: mass spectrometry mapping of most exons and cooperative domain designs based on single molecule mechanics

12 July 2018

1 reference

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12 July 2018

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12 July 2018

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12 July 2018

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Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy

12 July 2018

1 reference

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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

12 July 2018

1 reference

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Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy.

12 July 2018

1 reference

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Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene

12 July 2018

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12 July 2018

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A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground

12 July 2018

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Assessment of the feasibility of exon 45-55 multiexon skipping for Duchenne muscular dystrophy

12 July 2018

1 reference

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Sarcolemma-localized nNOS is required to maintain activity after mild exercise

12 July 2018

1 reference

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Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene

12 July 2018

1 reference

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Dystrophin, its interactions with other proteins, and implications for muscular dystrophy

12 July 2018

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12 July 2018

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

12 July 2018

1 reference

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Association of neuronal nitric oxide synthase (nNOS) with alpha1-syntrophin at the sarcolemma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy

12 July 2018

1 reference

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Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion

12 July 2018

1 reference

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Impaired metabolic modulation of alpha-adrenergic vasoconstriction in dystrophin-deficient skeletal muscle

12 July 2018

1 reference

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Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.

12 July 2018

1 reference

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Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy

12 July 2018

1 reference

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

12 July 2018

1 reference

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

12 July 2018

1 reference

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Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia.

25 September 2018

1 reference

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Molecular extensibility of mini-dystrophins and a dystrophin rod construct

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression

25 September 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR291

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR291

Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR291

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR291

Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235564

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

15 November 2018

1 reference

12 December 2020

Asymptomatic dystrophinopathy

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

Cardiac involvement in Becker muscular dystrophy.

1 reference

12 December 2020

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

1 reference

12 December 2020

[Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene]

1 reference

12 December 2020

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

12 December 2020

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients

1 reference

12 December 2020

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

1 reference

12 December 2020

[Late onset Becker muscular dystrophy. A case report and literature review]

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWR291

1 reference

9 August 2017

1 reference

9 August 2017

1 reference