(Q45147372)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21515508%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

A population-based study of dystrophin mutations in Canada (English)

1 reference

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29 January 2020

1 reference

2

1 reference

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29 January 2020

5

Mark Tarnopolsky

1 reference

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29 January 2020

author name string

Jean K Mah

1

1 reference

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29 January 2020

Craig Campbell

3

1 reference

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29 January 2020

Amelie Nadeau

4

1 reference

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29 January 2020

Anna McCormick

6

1 reference

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29 January 2020

Joseph M Dooley

7

1 reference

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29 January 2020

Hanna Kolski

8

1 reference

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29 January 2020

Andrew J Skalsky

9

1 reference

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29 January 2020

R Garth Smith

10

1 reference

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29 January 2020

David Buckley

11

1 reference

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29 January 2020

Peter N Ray

12

1 reference

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29 January 2020

Grace Yoon

13

1 reference

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29 January 2020

publication date

1 May 2011

1 reference

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Canadian Journal of Neurological Sciences

29 January 2020

published in

1 reference

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29 January 2020

volume

38

1 reference

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29 January 2020

issue

3

1 reference

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29 January 2020

page(s)

465-474

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21515508%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy: Canadian paediatric neuromuscular physicians survey.

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Copy number variation in the genome; the human DMD gene as an example

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD).

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Microarray-based mutation detection in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Duchenne muscular dystrophy: a 30-year population-based incidence study.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100011896

7 January 2021

10.1017/S0317167100011896

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21515508%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference