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Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement


Pathologically and Genetically Diagnosed Subclinical Symptomatic Duchenne Muscular Dystrophy Carrier: Broadened Spectrum of Clinical Phenotype

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Dystrophin gene editing by CRISPR/Cas9 system in human skeletal muscle cell line (HSkMC)


Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls

Dmd Gene sentence examples within incurable disease caused



Simvastatin does not alleviate muscle pathology in a mouse model of Duchenne muscular dystrophy


Simvastatin Influences Selected Aspects of Duchenne Muscular Dystrophy Pathology in a Mouse Model


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Dmd Gene sentence examples within Encoding Dmd Gene



Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center


Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature

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Proteomic profiling of the interface between the stomach wall and the pancreas in dystrophinopathy.


Proteomic profiling of the interface between the stomach wall and the pancreas in dystrophinopathy

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DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years


Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls

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Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform


GSDMD-Mediated Cardiomyocyte Pyroptosis Promotes Myocardial I/R Injury

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In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers


Disrupted Calcium Homeostasis in Duchenne Muscular Dystrophy: A Common Mechanism behind Diverse Consequences

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Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs.


Gene Replacement Therapy for Duchenne Muscular Dystrophy

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The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine


Distrofia muscular de Becker con duplicación en el exón 5del gen DMD

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10.22376/IJPBS/LPR.2021.11.4.L35-41

Combined Mutations of DMD and CFTR Genes in an Azerbaijani Family



Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.



CRISPR-SCReT (CRISPR-Stop Codon Read Through) method to control Cas9 expression for gene editing.



MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB



Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy



Specific Dystrophins Selectively Associate with Inhibitory and Excitatory Synapses of the Mouse Cerebellum and their Loss Alters Expression of P2X7 Purinoceptors and Pro-Inflammatory Mediators.


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10.1161/CIRCRESAHA.121.319579

Cardiac Myoediting Attenuates Cardiac Abnormalities in Human and Mouse Models of Duchenne Muscular Dystrophy


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10.1016/j.ymthe.2021.09.003

Full-length Dystrophin Restoration via Targeted Genomic Integration by AAV-CRISPR in a Humanized Mouse Model of Duchenne Muscular Dystrophy.



A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the DMD Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis



Read-through approach for stop mutations in Duchenne muscular dystrophy. An update



The Dystrophin Node as Integrator of Cytoskeletal Organization, Lateral Force Transmission, Fiber Stability and Cellular Signaling in Skeletal Muscle


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10.1200/JCO.2021.39.15_SUPPL.E23525

Evaluation of dystrophin expression by immunohistochemistry as a prognostic factor in leiomyosarcomas (LMS).



Analysis of complex structural variants in the DMD gene in one family


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10.1016/BS.PMBTS.2021.01.029

Gene editing and modulation for Duchenne muscular dystrophy.



Casimersen: First Approval



Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression



Focus on the road to modelling cardiomyopathy in muscular dystrophy.



Antisense Oligonucleotide-Mediated Exon-skipping Therapies: Precision Medicine Spreading from Duchenne Muscular Dystrophy



Epigenetic modifications in muscle regeneration and progression of Duchenne muscular dystrophy



Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping



Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.



Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy



Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.



miRNome profiling in Duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers



Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies



Therapeutic Approaches for Duchenne Muscular Dystrophy: Old and New.



Embryonic neural stem/progenitor cells as model to characterize dystrophin and dystrophin-associated proteins expression during neuronal or astrocytic differentiation



Empowering Muscle Stem Cells for the Treatment of Duchenne Muscular Dystrophy.



The multifaceted view of heart problem in Duchenne muscular dystrophy



Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks.



Immortalized Canine Dystrophic Myoblast Cell Lines for Development of Peptide-Conjugated Splice-Switching Oligonucleotides



Generation and characterization of an induced pluripotent stem cell line (ZSYYDNi001-A) from a patient with Duchenne muscular dystrophy carrying exon 51 deletion in the DMD gene.



Have Duchenne Muscular Dystrophy Patients an Increased Cancer Risk?



Prednisolone rescues Duchenne muscular dystrophy phenotypes in human pluripotent stem cell–derived skeletal muscle in vitro



Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant



An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.



Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy



Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy


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10.1136/archdischild-2019-epa.191

GP126 Large deletions in DMD gene is the most prevalence mutation in russian children with duchenne muscular dystrophy



Amelioration of intracellular Ca2+ regulation by exon-45 skipping in Duchenne muscular dystrophy-induced pluripotent stem cell-derived cardiomyocytes.



DMD Open‐access Variant Explorer (DOVE): A scalable, open‐access, web‐based tool to aid in clinical interpretation of genetic variants in the DMD gene



Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy



Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene



Female carrier with DMD mutation manifesting only asymptomatic hyperCKemia and psychiatric problems



Developmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy



In This Issue


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10.1007/978-981-32-9828-6_22

Resolving the Diagnostic Odyssey of a Patient with an Undefined Neuromuscular Disorder Using Massively Parallel Sequencing Approaches



Development of CRISPR-Mediated Systems in the Study of Duchenne Muscular Dystrophy.