Associated Papers
Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.
Choi Y et al.
Yonsei Medical Journal, 2026
41431411 (PubMed )
Supplement: ymj-67-34-s001.pdf
Two Brothers With ADSS1 Myopathy: A Report of Clinical, Radiological, and Autopsy Findings.
Hama Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.
Wang H et al.
Molecular Genetics & Genomic Medicine, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
A review of major causative genes in congenital myopathies.
Ogasawara M et al.
Journal of Human Genetics, 2023
An autopsied case of ADSSL1 myopathy.
Motoda A et al.
Neuromuscular Disorders : Nmd, 2021
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
Saito Y et al.
Neurology, 2020
Distal myopathy with ADSSL1 mutations in Korean patients.
Park HJ et al.
Neuromuscular Disorders : Nmd, 2017
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