Chuanzhu Yan

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 37

Top Venues

CNS neuroscience & therapeutics

Journal of translational medicine

BMC genomics

The Journal of pathology

Shandong University Qilu Hospital

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Shandong University Qilu Hospital

China

Dr. :: neurology

Publications

Jiayin Wang, Yan Lin, Zhihong Xu, Chuanzhu Yan, Yuying Zhao, Kunqian Ji
Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures. Cerebellum (London, England) (2024)
Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao
Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE. Journal of translational medicine 22 (1) (2024)
Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. BMC genomics 25 (1) (2024)
Chao Zhen, Bing Zhao, Jingzhen He, Li Wei, Chuanzhu Yan, Ting-Jun Dai, Ying Hou
Myofascial edema of gastrocnemius: A prominent MRI characteristic in dermatomyositis patients with anti-transcriptional intermediate factor 1-γ antibody. CNS neuroscience & therapeutics 30 (2) (2024)
Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. BMC genomics 25 (1) (2024)
Na Zhang, Fuchen Liu, Yuying Zhao, Xiaohan Sun, Bing Wen, Jian-Qiang Lu, Chuanzhu Yan, Duoling Li
Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease. The Journal of pathology (2024)
Lining Zhang, Lijun Fu, Guoyong Zhang, Ying Hou, Xiaotian Ma, Dandan Zhao, Wei Li, Ting-Jun Dai, Qiang Shu, Chuanzhu Yan, Bing Zhao
Clinico-sero-pathological profiles and risk prediction model of idiopathic inflammatory myopathy (IIM) patients with different perifascicular changes. CNS neuroscience & therapeutics 30 (8) (2024)
Yan Lin, Jiayin Wang, Xingyu Zhuang, Ying Zhao, Wei Wang, Dongdong Wang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji
Queuine ameliorates impaired mitochondrial function caused by mt-tRNA Asn variants. Journal of translational medicine 22 (1) (2024)
Lining Zhang, Lijun Fu, Guoyong Zhang, Ying Hou, Xiaotian Ma, Dandan Zhao, Wei Li, Ting-Jun Dai, Qiang Shu, Chuanzhu Yan, Bing Zhao
Clinico-sero-pathological profiles and risk prediction model of idiopathic inflammatory myopathy (IIM) patients with different perifascicular changes. CNS neuroscience & therapeutics 30 (8) (2024)
Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. BMC genomics 25 (1) (2024)
Yan Lin, Jiayin Wang, Xingyu Zhuang, Ying Zhao, Wei Wang, Dongdong Wang, Yuying Zhao, Chuanzhu Yan, Kunqian Ji
Queuine ameliorates impaired mitochondrial function caused by mt-tRNA Asn variants. Journal of translational medicine 22 (1) (2024)
Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao
Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE. Journal of translational medicine 22 (1) (2024)
Chao Zhen, Bing Zhao, Jingzhen He, Li Wei, Chuanzhu Yan, Ting-Jun Dai, Ying Hou
Myofascial edema of gastrocnemius: A prominent MRI characteristic in dermatomyositis patients with anti-transcriptional intermediate factor 1-γ antibody. CNS neuroscience & therapeutics 30 (2) (2024)
Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. BMC genomics 25 (1) (2024)
Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao
Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE. Journal of translational medicine 22 (1) (2024)
Na Zhang, Fuchen Liu, Yuying Zhao, Xiaohan Sun, Bing Wen, Jian-Qiang Lu, Chuanzhu Yan, Duoling Li
Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease. The Journal of pathology 263 (1) (2024)
Chao Zhen, Bing Zhao, Jingzhen He, Li Wei, Chuanzhu Yan, Ting-Jun Dai, Ying Hou
Myofascial edema of gastrocnemius: A prominent MRI characteristic in dermatomyositis patients with anti-transcriptional intermediate factor 1-γ antibody. CNS neuroscience & therapeutics 30 (2) (2024)
Yan Lin, Jiayin Wang, Ran Xu, Zhe Xu, Yifan Wang, Shirang Pan, Yan Zhang, Qing Tao, Yuying Zhao, Chuanzhu Yan, Zhenhua Cao, Kunqian Ji
HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. BMC genomics 25 (1) (2024)
Chao Zhen, Bing Zhao, Jingzhen He, Li Wei, Chuanzhu Yan, Ting-Jun Dai, Ying Hou
Myofascial edema of gastrocnemius: A prominent MRI characteristic in dermatomyositis patients with anti-transcriptional intermediate factor 1-γ antibody. CNS neuroscience & therapeutics 30 (2) (2024)
Na Zhang, Fuchen Liu, Yuying Zhao, Xiaohan Sun, Bing Wen, Jian-Qiang Lu, Chuanzhu Yan, Duoling Li
Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease. The Journal of pathology 263 (1) (2024)
Na Zhang, Fuchen Liu, Yuying Zhao, Xiaohan Sun, Bing Wen, Jian-Qiang Lu, Chuanzhu Yan, Duoling Li
Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease. The Journal of pathology 263 (1) (2024)
Ling Xu, Yaru Wang, Wenqing Wang, Rui Zhang, Dandan Zhao, Yan Yun, Fuchen Liu, Yuying Zhao, Chuanzhu Yan, Pengfei Lin
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy. Journal of medical genetics (2023)
Jixiang Du, Chao Zhang, Fuchen Liu, Xihan Liu, Dongdong Wang, Dandan Zhao, Guanghou Shui, Yuying Zhao, Chuanzhu Yan
Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction. Journal of molecular medicine (Berlin, Germany) (2023)
Wei Wang, Yuying Zhao, Xuebi Xu, Xiaotian Ma, Yuan Sun, Yan Lin, Ying Zhao, Zhihong Xu, Jiayin Wang, Hong Ren, Bin Wang, Dandan Zhao, Dongdong Wang, Fuchen Liu, Wei Li, Chuanzhu Yan, Kunqian Ji
A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt-ND variants. Annals of clinical and translational neurology (2023)
Guangyu Wang, Bin Wang, Qingtao Qin, Chuanzhu Yan, Yuying Zhao, Pengfei Lin
Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society (2023)
Guangyu Wang, Wenjing Wu, Xiaoqing Lv, Chuanzhu Yan, Pengfei Lin
Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders. Journal of human genetics (2023)
Xiaoqing Lv, Feng Lin, Wenjing Wu, Hui Wang, Yuebei Luo, Zhiqiang Wang, Chuanzhu Yan, He Lv, Sushan Luo, Pengfei Lin
The clinical features and TCAP mutation Spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7. Human molecular genetics (2023)
Xinyu Gu, Jiaxi Yu, Kexin Jiao, Jianwen Deng, Xingyu Xia, Kai Qiao, Dongyue Yue, Mingshi Gao, Chongbo Zhao, Jihong Dong, Gongchun Huang, Jingli Shan, Chuanzhu Yan, Li Di, Yuwei Da, Wenhua Zhu, Jianying Xi, Zhaoxia Wang
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy. Journal of medical genetics (2023)
Shuangwu Liu, Xiaohan Sun, Qingguo Ren, Yujing Chen, Tingjun Dai, Yiru Yang, Gaolang Gong, Wei Li, Yuying Zhao, Xiangshui Meng, Pengfei Lin, Chuanzhu Yan
Glymphatic dysfunction in patients with early-stage amyotrophic lateral sclerosis. Brain : a journal of neurology (2023)
Guangyu Wang, Ying Hou, Xiaoqing Lv, Chuanzhu Yan, Pengfei Lin
Somatic and germinal mosaicism in a Han Chinese family with laminopathies. European journal of human genetics : EJHG (2022)
Kunqian Ji, Wei Wang, Yan Lin, Xuebi Xu, Fuchen Liu, Dongdong Wang, Yuying Zhao, Chuanzhu Yan
Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNAGln m.4349C>T Variant. Annals of clinical and translational neurology 7 (6) (2021)
Ying Hou, Kai Shao, Yaping Yan, Tingjun Dai, Wei Li, Yuying Zhao, Duoling Li, Jian-Qiang Lu, Gary L Norman, Chuanzhu Yan
Anti-HMGCR myopathy overlaps with dermatomyositis-like rash: a distinct subtype of idiopathic inflammatory myopathy. Journal of neurology (2021)
Yan Lin, Jixiang Du, Wei Wang, Hong Ren, Dandan Zhao, Fuchen Liu, Pengfei Lin, Kunqian Ji, Yuying Zhao, Chuanzhu Yan
Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 42 (10) (2021)
Ying Hou, Kai Shao, Bing Zhao, Tingjun Dai, Qinzhou Wang, Yuying Zhao, Chuanzhu Yan, Yaping Yan, Xiaotian Ma, Wei Li
Juvenile idiopathic inflammatory myopathies with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies in a Chinese cohort. CNS neuroscience & therapeutics (2021)
Bing Wen, Shuyao Tang, Xiaoqing Lv, Duoling Li, Jingwen Xu, Rikke Katrine Jentoft Olsen, Yuying Zhao, Wei Li, Tan Wang, Kai Shao, Dandan Zhao, Chuanzhu Yan
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: A single-center retrospective study. Human molecular genetics (2021)
Kunqian Ji, Yan Lin, Xuebi Xu, Wei Wang, Dongdong Wang, Chen Zhang, Wei Li, Yuying Zhao, Chuanzhu Yan
MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNATrp and remarkable mitochondrial dysfunction. Journal of medical genetics (2020)
Yan Lin, Kunqian Ji, Xiaotian Ma, Shuangwu Liu, Wei Li, Yuying Zhao, Chuanzhu Yan
Accuracy of FGF-21 and GDF-15 for the diagnosis of mitochondrial disorders: A meta-analysis. Annals of clinical and translational neurology 7 (7) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Chuanzhu Yan