Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. (Q35224393)

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28 February 2020

title

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45 (English)

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28 February 2020

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28 February 2020

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28 February 2020

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28 February 2020

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28 February 2020

Kathryn J Swoboda

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28 February 2020

Andrew R Findlay

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28 February 2020

Nicolas Wein

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28 February 2020

Yuuki Kaminoh

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28 February 2020

Laura E Taylor

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28 February 2020

Diane M Dunn

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28 February 2020

Jerry R Mendell

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28 February 2020

Wendy M King

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28 February 2020

Alan Pestronk

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28 February 2020

Julaine M Florence

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28 February 2020

Richard S Finkel

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28 February 2020

Michael T Howard

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28 February 2020

John W Day

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28 February 2020

Elisabeth Le Rumeur

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28 February 2020

Robert B Weiss

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28 February 2020

United Dystrophinopathy Project

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28 February 2020

publication date

2 March 2015

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28 February 2020

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28 February 2020

volume

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issue

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28 February 2020

page(s)

668-674

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Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients

28 February 2020

cites work

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Engineering multiple U7snRNA constructs to induce single and multiexon-skipping for Duchenne muscular dystrophy

27 July 2018

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Systemic administration of PRO051 in Duchenne's muscular dystrophy

27 July 2018

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

27 July 2018

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

27 July 2018

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A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy

27 July 2018

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Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

27 July 2018

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Advances in Duchenne muscular dystrophy gene therapy

27 July 2018

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Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy

27 July 2018

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A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4376581

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

26 September 2018

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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

26 September 2018

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Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

26 September 2018

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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4376581

Differential stabilities of alternative exon-skipped rod motifs of dystrophin

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4376581

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

26 September 2018

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MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

26 September 2018

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Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript.

26 September 2018

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Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.

26 September 2018

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The dystrophin gene is alternatively spliced throughout its coding sequence.

26 September 2018

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Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies.

26 September 2018

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Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24365

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation

21 January 2018

1 reference

12 December 2020

Becker muscular dystrophy severity is linked to the structure of dystrophin

1 reference

12 December 2020

The muscular dystrophies

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12 December 2020

Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy

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12 December 2020

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion

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12 December 2020

Identifiers

DOI

10.1002/ANA.24365

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28 February 2020

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28 February 2020

PubMed publication ID

25612243

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