(Q35508913)

8 August 2017

title

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

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Duchenne muscular dystrophy

8 August 2017

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inferred from title

author

Annemieke Aartsma-Rus

59

Annemieke Aartsma-Rus

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Ann Martin

Ann S Martin

51

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Rosário Santos

Rosário Santos

35

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Jordi Díaz-Manera

Jordi Díaz-Manera

44

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En Kimura

En Kimura

27

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Eduard Gallardo

Eduard Gallardo

45

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Kevin M. Flanigan

Kevin M Flanigan

55

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Janbernd Kirschner

Jan Kirschner

54

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Christophe Beroud

Christophe Béroud

60

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Manuel Posada

Manuel Posada

40

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David Salgado

David Salgado

2

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Volker Straub

56

Volker Straub

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8 August 2017

Anna Kostera-Pruszczyk

33

Anna Kostera-Pruszczyk

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8 August 2017

61

Hanns Lochmüller

1 reference

8 August 2017

Matthew I Bellgard

53

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Janusz Zimowski

34

Janusz Zimowski

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8 August 2017

Jan Verschuuren

58

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ORCID Public Data File 2021

Filippo Buccella

26

Filippo Buccella

1 reference

8 August 2017

32

Anna Lusakowska

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8 August 2017

31

Richard Roxburgh

1 reference

8 August 2017

Catherine L Bladen

1

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8 August 2017

Soledad Monges

3

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8 August 2017

Maria E Foncuberta

4

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8 August 2017

Kyriaki Kekou

5

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8 August 2017

Konstantina Kosma

6

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8 August 2017

Hugh Dawkins

7

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8 August 2017

Leanne Lamont

8

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8 August 2017

Anna J Roy

9

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8 August 2017

Teodora Chamova

10

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8 August 2017

Velina Guergueltcheva

11

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8 August 2017

Sophelia Chan

12

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8 August 2017

Lawrence Korngut

13

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8 August 2017

Craig Campbell

14

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8 August 2017

Yi Dai

15

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8 August 2017

Jen Wang

16

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8 August 2017

Nina Barišić

17

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8 August 2017

Petr Brabec

18

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8 August 2017

Jaana Lahdetie

19

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8 August 2017

Maggie C Walter

20

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8 August 2017

Olivia Schreiber-Katz

21

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8 August 2017

Veronika Karcagi

22

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8 August 2017

Marta Garami

23

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8 August 2017

Venkatarman Viswanathan

24

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8 August 2017

Farhad Bayat

25

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8 August 2017

Zaïda Koeks

28

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8 August 2017

Janneke C van den Bergen

29

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8 August 2017

Miriam Rodrigues

30

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8 August 2017

Elena Neagu

36

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8 August 2017

Svetlana Artemieva

37

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8 August 2017

Vedrana Milic Rasic

38

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8 August 2017

Dina Vojinovic

39

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8 August 2017

Clemens Bloetzer

41

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8 August 2017

Pierre-Yves Jeannet

42

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8 August 2017

Franziska Joncourt

43

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8 August 2017

A Ayşe Karaduman

46

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8 August 2017

Haluk Topaloğlu

47

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8 August 2017

Rasha El Sherif

48

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8 August 2017

Angela Stringer

49

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8 August 2017

Andriy V Shatillo

50

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8 August 2017

Holly L Peay

52

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8 August 2017

Kate Bushby

57

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8 August 2017

publication date

17 March 2015

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8 August 2017

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8 August 2017

volume

36

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8 August 2017

issue

4

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8 August 2017

page(s)

395-402

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A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Standards of care for Duchenne muscular dystrophy: brief TREAT-NMD recommendations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

The therapeutic potential of antisense-mediated exon skipping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

PTC124 targets genetic disorders caused by nonsense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Experience and strategy for the molecular testing of Duchenne muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

The structural and functional diversity of dystrophin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Advances in therapeutic RNA-targeting

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Collaborating to bring new therapies to the patient--the TREAT-NMD model.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Recommendations for locus-specific databases and their curation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

UMD (Universal Mutation Database): 2005 update

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405042

Are CpG sites mutation hot spots in the dystrophin gene?

26 September 2018

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

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

12 December 2020

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

12 December 2020

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22758

1 reference

8 August 2017

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8 August 2017

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