• <em>LMNA</em> Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy
• A case of Fukuyama-type congenital muscular dystrophy with acute carnitine deficiency triggered by fever, vomiting, and gastrointestinal bleeding
• An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases
• Assessing the Role of Aquaporin 4 in Skeletal Muscle Function
• Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography
• Branchpoints as potential targets of exon-skipping therapies for genetic disorders
• Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in alpha-Dystroglycan-Related Muscular Disorders
• Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders
• Clinical outcomes of continuous flow left ventricular assist device therapy as bridge to transplant strategy in muscular dystrophy: a single-center study
• Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy
• Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy
• Fukuyama Congenital Muscular Dystrophy
• Fukuyama Congenital Muscular Dystrophy
• Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity
• Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases
• Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology
• Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion