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
No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.
Yilihamu M et al.
Journal of Clinical Medicine, 2022
[SORD-related hereditary neuropathies].
Fernández-Eulate G et al.
Medecine Sciences : M/s, 2021
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
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
Select a paper to view details