(Q34561960)

3 August 2017

title

Ataluren treatment of patients with nonsense mutation dystrophinopathy (English)

1 reference

3 August 2017

Anne M Connolly

7

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Craig M. McDonald

Craig M Mcdonald

34

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Kevin M. Flanigan

Kevin M Flanigan

9

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Monique Ryan

Monique M Ryan

16

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Steven A Moore

Steven A Moore

19

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Giacomo P Comi

Giacomo P Comi

6

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Richard T Abresch

21

Richard T Abresch

1 reference

3 August 2017

Katharine Bushby

1

1 reference

3 August 2017

Richard Finkel

2

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3 August 2017

Brenda Wong

3

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3 August 2017

Richard Barohn

4

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3 August 2017

Craig Campbell

5

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3 August 2017

John W Day

8

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3 August 2017

Nathalie Goemans

10

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3 August 2017

Kristi J Jones

11

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3 August 2017

Eugenio Mercuri

12

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3 August 2017

Ros Quinlivan

13

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3 August 2017

James B Renfroe

14

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3 August 2017

Barry Russman

15

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3 August 2017

Mar Tulinius

17

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3 August 2017

Thomas Voit

18

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3 August 2017

H Lee Sweeney

20

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3 August 2017

Kim L Coleman

22

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3 August 2017

Michelle Eagle

23

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3 August 2017

Julaine Florence

24

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3 August 2017

Eduard Gappmaier

25

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3 August 2017

Allan M Glanzman

26

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3 August 2017

Erik Henricson

27

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3 August 2017

Jay Barth

28

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3 August 2017

Gary L Elfring

29

1 reference

3 August 2017

Allen Reha

30

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3 August 2017

Robert J Spiegel

31

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3 August 2017

Michael W O'donnell

32

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3 August 2017

Stuart W Peltz

33

1 reference

3 August 2017

PTC124-GD-007-DMD STUDY GROUP

35

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3 August 2017

publication date

1 October 2014

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3 August 2017

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3 August 2017

volume

50

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3 August 2017

issue

4

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3 August 2017

page(s)

477-487

1 reference

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

3 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=4241581

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

The 6-Minute Walk Test and Person-Reported Outcomes in Boys with Duchenne Muscular Dystrophy and Typically Developing Controls: Longitudinal Comparisons and Clinically-Meaningful Changes Over One Year

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Accurate Quantitation of Dystrophin Protein in Human Skeletal Muscle Using Mass Spectrometry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Treatment of a methylmalonyl-CoA mutase stopcodon mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Rescue of nonsense mutations by amlexanox in human cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Percent-predicted 6-minute walk distance in duchenne muscular dystrophy to account for maturational influences.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

PTC124 targets genetic disorders caused by nonsense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Physical activity, health impairments, and disability in neuromuscular disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Profiles of neuromuscular diseases. Duchenne muscular dystrophy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

7 July 2018

1 reference

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

21 January 2018

1 reference

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

21 January 2018

1 reference

Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis

21 January 2018

1 reference

The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy.

21 January 2018

1 reference

The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations

21 January 2018

1 reference

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

21 January 2018

1 reference

Six-minute walk test in children and adolescents.

21 January 2018

1 reference

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

21 January 2018

1 reference

Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis

21 January 2018

1 reference

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4241581

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

27 October 2018

1 reference

Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome

21 January 2018

1 reference

12 December 2020

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

1 reference

12 December 2020

Functional status and muscle strength in people with Duchenne muscular dystrophy living in the community

1 reference

12 December 2020

Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients

1 reference

12 December 2020

Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment

1 reference

12 December 2020

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

12 December 2020

Predictive factors for the development of scoliosis in Duchenne muscular dystrophy

1 reference

12 December 2020

Fracture risk in patients with muscular dystrophy and spinal muscular atrophy

1 reference

12 December 2020

Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy

1 reference

12 December 2020

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

1 reference

12 January 2024

https://opencitations.net/index/api/v1/citations/10.1038/NBT.1610

Identifiers

DOI

10.1002/MUS.24332

1 reference

3 August 2017

1 reference

3 August 2017

1 reference