Associated Papers
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
40390582 (PubMed )
Supplement: jkms-40-e68-s003.xls › jkms-40-e68-s003
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
39609445 (PubMed )
Supplement: 41525_2024_449_MOESM3_ESM.xlsx › Table_S2
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
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S11
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
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
Baskar D et al.
Neurology. Genetics, 2024
A review of major causative genes in congenital myopathies.
Ogasawara M et al.
Journal of Human Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
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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