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Last Updated: 01/07/2026

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Found 189 publications

Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy.

Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy.

Journal: Annals of medicine
Published: October 06, 2025

Early Pulmonary Dysfunction in Dystrophinopathy: Evidence for Proactive Respiratory Monitoring in Children.

Early Pulmonary Dysfunction in Dystrophinopathy: Evidence for Proactive Respiratory Monitoring in Children.

Journal: Indian journal of pediatrics
Published: September 12, 2025

Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy.

Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy.

Journal: Klinische Padiatrie
Published: August 11, 2025

Dystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry.

Dystrophinopathy in ACTION: The first 500 males enrolled in the Advanced Cardiac Therapies Improving Outcomes Network prospective dystrophinopathy registry.

Journal: Neuromuscular disorders : NMD
Published: August 01, 2025

From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing.

From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing.

Journal: Computational and structural biotechnology journal
Published: July 01, 2025

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.

Journal: The application of clinical genetics
Published: June 07, 2025

Molecular genetics of dystrophinopathy.

Molecular genetics of dystrophinopathy.

Journal: Journal of human genetics
Published: June 01, 2025

Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees.

Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees.

Journal: Genes & genomics
Published: March 14, 2025

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Journal: Journal of human genetics
Published: February 21, 2025

Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.

Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.

Journal: Neurology. Genetics
Published: January 28, 2025

Intellectual disability and genotype-phenotype correlation between full-scale intelligence quotient and mutation characteristics in boys with dystrophinopathy.

Intellectual disability and genotype-phenotype correlation between full-scale intelligence quotient and mutation characteristics in boys with dystrophinopathy.

Journal: Brain & development
Published: September 27, 2024

Pulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study.

Pulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study.

Journal: Indian journal of pediatrics
Published: September 09, 2024
Showing 1-12 of 189

Last Updated: 01/07/2026