Associated Papers
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A et al.
Brain : a 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
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
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
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
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
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