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Last Updated: 10/31/2025
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Found 184 publications
Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy.
Journal: Annals of medicine
Published: October 06, 2025
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
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.
Journal: Journal of human genetics
Published: February 21, 2025
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.
Journal: Brain & development
Published: September 27, 2024
Pulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study.
Journal: Indian journal of pediatrics
Published: September 09, 2024
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.
Journal: Neurogenetics
Published: August 06, 2024
Dystrophinopathy in the paravertebral muscle of adolescent idiopathic scoliosis: a prospective case-control study in China.
Journal: Asian spine journal
Published: August 06, 2024
Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.
Journal: Annals of clinical and translational neurology
Published: August 04, 2024
The behavioural consequences of dystrophinopathy.
Journal: Disease models & mechanisms
Published: August 02, 2024
Last Updated: 10/31/2025