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Ataluren treatment of patients with nonsense mutation dystrophinopathy

author

Anne Connolly

Craig M. McDonald

Kevin M. Flanigan

Monique Ryan

1967 -

Steven A Moore

Giacomo P Comi

Richard T Abresch

published in: Muscle and Nerve

date of publication: 2014-10-01

Cites articles 52

Date

Title

Authors

2013-12-20

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects
2013-12-11

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

Kevin M. Flanigan
2013-11-23

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

Anton Petcherski, Jared Sterneckert, Hans Schöler, Susan L Cotman
2013-07-08

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

Craig M. McDonald, Alina Nicorici, Richard T Abresch
2013-06-18

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene
2013-05-23

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

Jouni Uitto
2013-06-26

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

Craig M. McDonald
2013-09-01

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

Kylie M Drake, Nicholas W Morrell, Micheala A Aldred
2013-03-28

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis
2013

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

Eugenio Mercuri, Adele D'Amico, Angela Berardinelli, Francesca Magri, Sonia Messina, Gessica Vasco, Yvan Torrente, Luca Bello, Stefano C. Previtali, Roberta Battini, Giacomo P Comi, Enrico Bertini, Tiziana Mongini, Filippo Cavallaro, Silvia Frosini, Serena Bonfiglio, Roberto De Sanctis, Marika Pane, Luca Doglio, Paola Ambrosio, Flaviana Bianco, Chiara Maria Motta, Maria Alice Donati, Antonella Pini, Elena Pegoraro, Sara Napolitano, Luisa Politano
2013-12-23

Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome
2013-12-26

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

Monika Andersson Lendahl, Thomas Sejersen
2012-12-01

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

Kanneboyina Nagaraju, Eric Hoffman
2012-11-02

Treatment of a methylmalonyl-CoA mutase stopcodon mutation
2012-10-02

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

Tobias Goldmann, Michiel van Wyk
2012-09-13

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

Nicola Volpi, Alberto Auricchio
2012-08-31

Rescue of nonsense mutations by amlexanox in human cells

Fabrice Lejeune, Benoit Deprez, Vincent Mouly
2012-06-12

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy
2012-04-16

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
2011-01-01

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

Craig M. McDonald, Alina Nicorici, Richard T Abresch
2011-07-13

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy
2011-06-13

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients
2011-03-25

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

Tobias Goldmann
2011-07-06

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

Sonia Messina, Luca Bello, Stefano C. Previtali, Giuseppe Vita, Giacomo P Comi, Gessica Vasco, Maria Pia Sormani, Yvan Torrente, Angela Berardinelli, Roberta Battini, Enrico Bertini
2011-01-21

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation
2010-01-01

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

Dan Wang, Lorne Clarke
2010-01-01

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

Carine Le Goff, Valerie Cormier-Daire, Arnold Munnich
2010-07-09

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

Teresinha Leal, Francois Vermeulen
2010-04-01

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

Craig M. McDonald, Alina Nicorici
2010-12-01

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

Craig M. McDonald, Alina Nicorici
2010-06-01

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

Kevin M. Flanigan
2010-07-14

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

Angela Berardinelli, Sonia Messina, Adele D'Amico, Gessica Vasco, Luca Bello, Roberta Battini, Giuseppe Vita, Chiara de Waure, Enrico Bertini, Elisabetta Pasquini, Roberto De Sanctis, Marika Pane, Luca Doglio, Flaviana Bianco, Chiara Maria Motta, Maria Alice Donati, Antonella Pini, Elena Pegoraro, Luisa Politano, Tiziana Mongini, Diego Martinelli, Elena Mazzone

Article - wd:Q34561960

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