(Q42614868)

3 November 2017

title

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene (English)

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3 November 2017

Cécile Peccate

7

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Christophe Beroud

object named as

Christophe Béroud

1

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author name string

Alain Carrié

2

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3 November 2017

Chérif Beldjord

3

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3 November 2017

Nathalie Deburgrave

4

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3 November 2017

Stéphane Llense

5

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3 November 2017

Nadège Carelle

6

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3 November 2017

Jean Marie Cuisset

8

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3 November 2017

Florence Pandit

9

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3 November 2017

Frédérique Carré-Pigeon

10

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3 November 2017

Michèle Mayer

11

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3 November 2017

Rémi Bellance

12

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3 November 2017

Dominique Récan

13

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3 November 2017

Jamel Chelly

14

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3 November 2017

Jean Claude Kaplan

15

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3 November 2017

France Leturcq

16

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3 November 2017

publication date

1 January 2004

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3 November 2017

published in

Neuromuscular Disorders

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3 November 2017

volume

14

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3 November 2017

issue

1

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3 November 2017

page(s)

10-18

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The structural and functional diversity of dystrophin

3 November 2017

cites work

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7 January 2021

Molecular pathophysiology and targeted therapeutics for muscular dystrophy

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7 January 2021

Gene transfer studies in animals: what do they really tell us about the prospects for gene therapy in DMD?

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Diagnostic protein expression in human muscle biopsies

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7 January 2021

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

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7 January 2021

Analysis of canonical and non-canonical splice sites in mammalian genomes

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7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

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7 January 2021

Alternative pre-mRNA splicing: the logic of combinatorial control

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7 January 2021

Pre-mRNA splicing in the new millennium

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7 January 2021

A genomic view of alternative splicing

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7 January 2021

Multiple splicing defects in an intronic false exon

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7 January 2021

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

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7 January 2021

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

1 reference

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7 January 2021

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

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7 January 2021

A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion

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7 January 2021

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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7 January 2021

A new type of mutation causes a splicing defect in ATM.

1 reference

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7 January 2021

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

1 reference

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7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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7 January 2021

The regulation of splice-site selection, and its role in human disease

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7 January 2021

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects

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7 January 2021

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online

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7 January 2021

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

1 reference

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7 January 2021

Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis

1 reference

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7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse

1 reference

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7 January 2021

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.

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7 January 2021

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening

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7 January 2021

Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy

1 reference

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7 January 2021

A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart

1 reference

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7 January 2021

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900169-X

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900169-X

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900169-X

7 January 2021

Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900169-X

7 January 2021

10.1016/S0960-8966(03)00169-X

Identifiers

DOI

1 reference

3 November 2017

1 reference