(Q26769701)

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

A sensitive, reproducible and objective immunofluorescence analysis method of dystrophin in individual fibers in samples from patients with duchenne muscular dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Cardiac phenotype determines survival in Duchenne muscular dystrophy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Clinical and Genetic Characterization of Female Dystrophinopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Dystrophin quantification: Biological and translational research implications

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Duchenne and Becker muscular dystrophies.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

The ZZ domain of dystrophin in DMD: making sense of missense mutations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Clinical and genetic characterization of manifesting carriers of DMD mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

X-linked dilated cardiomyopathy and the dystrophin gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789806

Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.

19 June 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

Dystrophin levels and clinical severity in Becker muscular dystrophy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

Deletion and duplication screening in the DMD gene using MLPA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

Germline mosaicism and Duchenne muscular dystrophy mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103387

21 January 2018

The muscular dystrophies

1 reference

12 December 2020

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

1 reference

12 December 2020

Evidence-based path to newborn screening for Duchenne muscular dystrophy

1 reference

12 December 2020

Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping

1 reference

12 December 2020

Dystrophin Analysis in Clinical Trials

1 reference

12 December 2020

10.1136/JMEDGENET-2015-103387

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

26754139

1 reference