Xing-lin Ruan

机构：Fujian Medical University, Fujian Provincial Hospital, Union Hospital

发表论文 5 篇 · 总被引 14 次 · h-index 3

代表论文

• Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family (2025 · BMC Neurology · 被引 4)
• Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation (2024 · Scientific Reports · 被引 4)
• Han family with essential tremor caused by the P421L variant of the TENM4 gene in China (2023 · Neurological Sciences · 被引 4)
• Author Correction: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation (2024 · Scientific Reports · 被引 2)
• Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations (2025 · Gene)