Associated Papers
Diagnostic Value of Muscle MRI in a Case of Very Late-Onset Becker Muscular Dystrophy.
Riedel EO et al.
Clinical Neuroradiology, 2026
Specificities of the DMD Point Variant Spectrum in Russian Patients With Duchenne/Becker Muscular Dystrophy.
Zinina E et al.
Clinical Genetics, 2025
Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.
Kruijt N et al.
Genes, 2025
Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.
Pickart AM et al.
Journal of Genetic Counseling, 2025
Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model.
Gushchina LV et al.
Molecular Therapy. Methods & Clinical Development, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy.
Gushchina LV et al.
Molecular Therapy. Nucleic Acids, 2022
Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse.
Wein N et al.
Molecular Therapy. Methods & Clinical Development, 2022
Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.
Zambon AA et al.
Neurology, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications.
Wein N et al.
Human Gene Therapy, 2021
Efficient precise in vivo base editing in adult dystrophic mice.
Xu L et al.
Nature Communications, 2021
Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping.
Simmons TR et al.
Molecular Therapy. Methods & Clinical Development, 2021
Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.
Zimowski JG et al.
Journal of Applied Genetics, 2021
Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation.
Saylam E et al.
Journal of Clinical Neuromuscular Disease, 2020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
Torella A et al.
Plos One, 2020
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Pizzo L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Becker muscular dystrophy caused by exon 2-truncating mutation of DMD.
Ikeda T et al.
Human Genome Variation, 2019
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM et al.
Journal of Human Genetics, 2017
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
Pons R et al.
Muscle & Nerve, 2017
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
Wein N et al.
Nature Medicine, 2014
Activating internal ribosome entry to treat Duchenne muscular dystrophy.
Lamandé SR et al.
Nature Medicine, 2014
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
Magri F et al.
Journal of Neurology, 2011
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
Magri F et al.
Bmc Medical Genetics, 2011
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM et al.
Human Mutation, 2011
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM et al.
Human Mutation, 2009
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
Flanigan KM et al.
Neuromuscular Disorders : Nmd, 2009
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
Gurvich OL et al.
Human Mutation, 2009
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.
Dent KM et al.
American Journal of Medical Genetics. Part A, 2005
Rapid direct sequence analysis of the dystrophin gene.
Flanigan KM et al.
American Journal of Human Genetics, 2003