Publications by authors named "Xing-Lin Ruan"

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Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.
Hong-Ping Yu, Zi-Yan Xu, Meng-Qian Wu, Qian Chen, Zhi-Hai Zheng, Dan-Dan Ruan, Xing-Lin Ruan

Gene· November 2025

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Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family.
Hong-Ping Yu, Jing Zou, Xiang Chen, Ying Chen, Dan-Dan Ruan, Xing-Lin Ruan

BMC Neurol· May 2025

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Author Correction: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Dan-Dan Ruan, Xing-Lin Ruan, Ruo-Li Wang, Xin-Fu Lin, Yan-Ping Zhang

Sci Rep· September 2024

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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Dan-Dan Ruan, Xing-Lin Ruan, Ruo-Li Wang, Xin-Fu Lin, Yan-Ping Zhang

Sci Rep· April 2024

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Corrigendum: Evaluation of ferritin and TfR level in plasma neural-derived exosomes as potential markers of Parkinson's disease.
Zhi-Ting Chen, Chu-Zhui Pan, Xing-Lin Ruan, Li-Ping Lei, Sheng-Mei Lin

Front Aging Neurosci· January 2024

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Evaluation of ferritin and TfR level in plasma neural-derived exosomes as potential markers of Parkinson's disease.
Zhi-Ting Chen, Chu-Zhui Pan, Xing-Lin Ruan, Li-Ping Lei, Sheng-Mei Lin

Front Aging Neurosci· September 2023

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Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Wu Chi, Min Wu, Han-Lu Wang, Qiu-Yan Wu, Yan-Ping Zhang, Xing-Lin Ruan

Neurol Sci· June 2023

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Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous Mutations.
Jian-Hui Zhang, Dan-Dan Ruan, Ya-Nan Hu, Xing-Lin Ruan, Yao-Bin Zhu

Biomed Res Int· September 2021

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Differences in gut microbiota structure in patients with stages 4-5 chronic kidney disease.
Rong Wu, Xing-Lin Ruan, Dan-Dan Ruan, Jian-Hui Zhang, Han-Lu Wang

Am J Transl Res· September 2021

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