Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

Splice Modulating Therapies for Human Disease

(2012) Pietro Spitali et al.   CELL

Splicing Modulation Mediated by Small Nuclear RNAs as Therapeutic Approaches for Muscular Dystrophies

(2012) Rachid Benchaouir et al.   CURRENT GENE THERAPY

Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping

(2012) Adeline Vulin et al.   MOLECULAR THERAPY

Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens

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

Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy

(2012) G. C. Kendall et al.   Science Translational Medicine

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

(2011) Nathalie Roux-Buisson et al.   HUMAN MUTATION

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

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

(2011) Mariko Taniguchi-Ikeda et al.   NATURE

Genetic therapies for RNA mis-splicing diseases

(2011) Suzan M. Hammond et al.   TRENDS IN GENETICS

RNAstructure: software for RNA secondary structure prediction and analysis

(2010) Jessica S Reuter et al.   BMC BIOINFORMATICS

Exon Exchange Approach to Repair Duchenne Dystrophin Transcripts

(2010) Stéphanie Lorain et al.   PLoS One

DHPR α1S subunit controls skeletal muscle mass and morphogenesis

(2009) France Piétri-Rouxel et al.   EMBO JOURNAL

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

(2009) Nicolas Wein et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

The influence of calcium signaling on the regulation of alternative splicing

(2008) Joachim Krebs   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

(2008) Nicole Monnier et al.   HUMAN MUTATION

Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms

(2008) Annemieke Aartsma-Rus et al.   MOLECULAR THERAPY