Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

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

(2012) Refik Kayali et al.   HUMAN MOLECULAR GENETICS

Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens

(2012) L. E. Taylor et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C

(2011) T. Goldmann et al.   HUMAN GENE THERAPY

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

(2011) Lu Tan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

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) Chinmoy Sarkar et al.   MOLECULAR GENETICS AND METABOLISM

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)

(2011) V.D. Nadarajah et al.   NEUROMUSCULAR DISORDERS

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

(2011) Nathalie M. Goemans et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of Muscle-Specific MicroRNAs in Serum of Muscular Dystrophy Animal Models: Promising Novel Blood-Based Markers for Muscular Dystrophy

(2011) Hideya Mizuno et al.   PLoS One

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

(2010) Craig M. MCDonald et al.   MUSCLE & NERVE

Emerging genetic therapies to treat Duchenne muscular dystrophy

(2009) Stanley F Nelson et al.   CURRENT OPINION IN NEUROLOGY

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

(2009) Dan Wang et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) Craig M. McDonald et al.   MUSCLE & NERVE

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

(2008) M. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA