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Annals of Clinical and Translational Neurology|December 14, 2020
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth diseaseRu-Ying Yuan, Zi-Ling Ye, Xiao-Rong Zhang, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 3, 2023
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic ParaplegiaYi-Jun Chen, Meng-Wen Wang, Yu-Sen Qiu, et al.Frontiers in Neurology|June 7, 2021
Novel Compound Missense and Intronic Splicing Mutation in <i>ALDH18A1</i> Causes Autosomal Recessive Spastic ParaplegiaYi-Jun Chen, Zai-Qiang Zhang, Meng-Wen Wang, et al.Neurology. Genetics|June 6, 2024
Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic ParaplegiaZhi-Xian Ye, Hao-Ling Xu, Na-Ping Chen, et al.Orphanet Journal of Rare Diseases|January 24, 2025
Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort studyZhi-Xian Ye, Xuan-Yu Chen, Meng-Cheng Li, et al.Blood|May 21, 2026
Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemiaYi-Heng Zeng, Yun-Hong Li, Ru-Ying Yuan, et al.BMJ Open|January 12, 2022
Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort studyYu-Sen Qiu, Yi-Heng Zeng, Ru-Ying Yuan, et al.Annals of Clinical and Translational Neurology|November 1, 2024
Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutationJingjing Lin, Yun-Lu Li, Bo-Li Chen, et al.Journal of Neurology|October 17, 2023
Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3Zhi-Xian Ye, Jin Bi, Liang-Liang Qiu, et al.Journal of Human Genetics|June 12, 2024
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxiaZe-Hong Zheng, Chun-Yan Cao, Bi Cheng, et al.Pageof 2