Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Quartesan I et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A et al.
Brain : a Journal of Neurology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.
Kodal LS et al.
European Journal of Neurology, 2025
A novel mutation in SORD gene associated with distal hereditary motor neuropathies.
Yuan X et al.
Bmc Medical Genomics, 2024
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.
Arlt A et al.
Journal of Neurogenetics, 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
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.
Dratch L et al.
Biology, 2024
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N et al.
European Journal of Neurology, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Massucco S et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2023
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.
Laššuthová P et al.
Scientific Reports, 2021
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.
Dong HL et al.
Npj Genomic Medicine, 2021
Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy.
Liu X et al.
Frontiers in Neurology, 2021
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A et al.
Nature Genetics, 2020