Xiaohui Duan

ORCID：0000-0001-5916-4569

发表论文 38 篇 · 总被引 456 次 · h-index 10

代表论文

• ANXA11 mutations are associated with amyotrophic lateral sclerosis–frontotemporal dementia (2022 · Frontiers in Neurology · 被引 30)
• Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy (2021 · Frontiers in Neurology · 被引 23)
• Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants (2020 · The Cerebellum · 被引 21)
• Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease (2020 · Frontiers in Neurology · 被引 17)
• Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients (2023 · Frontiers in Genetics · 被引 11)
• Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients (2021 · Orphanet Journal of Rare Diseases · 被引 10)