The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

(2020) Mariko Okubo et al.   HUMAN GENETICS

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

(2020) Marcella Neri et al.   Frontiers in Genetics

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer

(2019) Yanrong Zhu et al.   HUMAN GENETICS

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing

(2019) Dong Wang et al.   Frontiers in Pharmacology

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy

(2018) Yoshiki Oitani et al.   BRAIN & DEVELOPMENT

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

(2018) David J Birnkrant et al.   LANCET NEUROLOGY

Comprehensive genetic characteristics of dystrophinopathies in China

(2018) Peipei Ma et al.   Orphanet Journal of Rare Diseases

Clinical management of Duchenne muscular dystrophy: the state of the art

(2018) Sonia Messina et al.   NEUROLOGICAL SCIENCES

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

(2018) F. Musacchia et al.   BMC BIOINFORMATICS

Off-Label Use of Ataluren in Four Non-ambulatory Patients With Nonsense Mutation Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength

(2018) Daniel Ebrahimi-Fakhari et al.   Frontiers in Pediatrics

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

(2017) Mariko Okubo et al.   Orphanet Journal of Rare Diseases

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

(2017) Anne-Laure Bougé et al.   Scientific Reports

Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders

(2016) Vincenzo Nigro et al.   CURRENT OPINION IN NEUROLOGY

The importance of genetic diagnosis for Duchenne muscular dystrophy

(2016) Annemieke Aartsma-Rus et al.   JOURNAL OF MEDICAL GENETICS

The genetic basis of undiagnosed muscular dystrophies and myopathies

(2016) Marco Savarese et al.   NEUROLOGY

Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects

(2015) Vincenzo Nigro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

(2015) Ruolan Guo et al.   JOURNAL OF HUMAN GENETICS

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

(2015) Jonas Juan-Mateu et al.   PLoS One

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

(2014) Rosário Santos et al.   JOURNAL OF HUMAN GENETICS

EMA reconsiders 'read-through' drug against Duchenne muscular dystrophy following appeal

(2014) Asher Mullard   NATURE BIOTECHNOLOGY

Duchenne and Becker Muscular Dystrophies

(2014) Kevin M. Flanigan   NEUROLOGIC CLINICS

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

(2014) Marco Savarese et al.   Acta Neuropathologica Communications

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

(2013) Jonàs Juan-Mateu et al.   PLoS One

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2

(2012) N. Witting et al.   NEUROMUSCULAR DISORDERS

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

(2011) K. Anthony et al.   BRAIN

Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD

(2011) Christophe Pichavant et al.   MOLECULAR THERAPY

Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing

(2010) Raoul Jean Pierre Bonnal et al.   ANALYTICAL BIOCHEMISTRY

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

(2010) Kevin M. Flanigan et al.   HUMAN MUTATION

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

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

Emerging genetic therapies to treat Duchenne muscular dystrophy

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

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

(2009) Sandie Le Guédard-Méreuze et al.   HUMAN MUTATION

DMDexon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6

(2009) Olga L. Gurvich et al.   HUMAN MUTATION

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

(2009) Kevin M. Flanigan et al.   HUMAN MUTATION

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography

(2009) Annalaura Torella et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Nonsense-mediated mRNA decay (NMD) mechanisms

(2009) Saverio Brogna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Point mutations in Czech DMD/BMD patients and their phenotypic outcome

(2009) Jana Sedláčková et al.   NEUROMUSCULAR DISORDERS

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

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

Log-PCR: A New Tool for Immediate and Cost-Effective Diagnosis of up to 85% of Dystrophin Gene Mutations

(2008) A. Trimarco et al.   CLINICAL CHEMISTRY