Publications by authors named "Dian-Fu Chen"

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Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.
Jiao-Jiao Xu, Yu-Lan Chen, Wan-Bing Sun, Hong-Fu Li, Zhi-Ying Wu, Dian-Fu Chen

Ann Clin Transl Neurol· December 2025

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Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.
Jiao-Jiao Xu, Yu-Lan Chen, Hao Yu, Dian-Fu Chen, Hong-Fu Li

Pediatr Neurol· September 2025

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Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.
Qiao Wei, Wenlu Fan, Hong-Fu Li, Pei-Shan Wang, Man Xu, Dian-Fu Chen

J Genet Genomics· August 2025

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Correction: CD2AP deficiency aggravates Alzheimer's disease phenotypes and pathology through p38 MAPK activation.
Yan-Yan Xue, Zhe-Sheng Zhang, Rong-Rong Lin, Hui-Fen Huang, Ke-Qing Zhu, Dian-Fu Chen

Transl Neurodegener· January 2025

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Single-Nucleus RNA Sequencing Reveals the Spatiotemporal Dynamics of Disease-Associated Microglia in Amyotrophic Lateral Sclerosis.
Lu-Xi Chen, Mei-Di Zhang, Hai-Feng Xu, Hai-Qin Ye, Dian-Fu Chen

Research (Wash D C)· December 2024

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CD2AP deficiency aggravates Alzheimer's disease phenotypes and pathology through p38 MAPK activation.
Yan-Yan Xue, Zhe-Sheng Zhang, Rong-Rong Lin, Hui-Fen Huang, Ke-Qing Zhu, Dian-Fu Chen

Transl Neurodegener· December 2024

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Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
Wan-Bing Sun, Jing-Xin Fu, Yu-Lan Chen, Hong-Fu Li, Zhi-Ying Wu, Dian-Fu Chen

J Genet Genomics· August 2024

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Hybrid Membrane-Coated Nanoparticles for Precise Targeting and Synergistic Therapy in Alzheimer's Disease.
Rong-Rong Lin, Lu-Lu Jin, Yan-Yan Xue, Zhe-Sheng Zhang, Hui-Feng Huang, Dian-Fu Chen

Adv Sci (Weinh)· June 2024

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Identification and functional characterization of novel variants of MAPT and GRN in Chinese patients with frontotemporal dementia.
Hong-Rong Cheng, Rong-Rong Lin, Hong-Lei Li, Yan-Yan Xue, Pei-Rong Gao, Dian-Fu Chen

Neurobiol Aging· March 2023

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Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.
Yu-Lan Chen, Dian-Fu Chen, Hua-Zhen Ke, Shao-Yun Zhao, Hong-Fu Li

Neurol Genet· April 2022

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Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
Yu-Lan Chen, Dian-Fu Chen, Hong-Fu Li, Zhi-Ying Wu

Mov Disord· March 2022

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A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.
Lei Chen, Dian-Fu Chen, Hai-Lin Dong, Gong-Lu Liu, Zhi-Ying Wu

CNS Neurosci Ther· October 2021

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Author Correction: TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
Hong-Fu Li, Yu-Lan Chen, Ling Zhuang, Dian-Fu Chen, Hua-Zhen Ke

Cell Discov· October 2021

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Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Hai-Lin Dong, Yin Ma, Hao Yu, Qiao Wei, Jia-Qi Li, Lei Chen, Dian-Fu Chen

Brain· September 2021

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TMEM151A variants cause paroxysmal kinesigenic dyskinesia.
Hong-Fu Li, Yu-Lan Chen, Ling Zhuang, Dian-Fu Chen, Hua-Zhen Ke

Cell Discov· September 2021

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TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.
Hao-Ling Cheng, Hai-Lin Dong, De-Shan Liu, Wang Ni, Yin Ma, Dian-Fu Chen

Gene· May 2021

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Clinical and genetic characteristics of Chinese patients with reducing body myopathy.
Lei Chen, Hui-Xia Lin, Xin-Xia Yang, Dian-Fu Chen, Hai-Lin Dong

Neuromuscul Disord· May 2021

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The discriminative capacity of CSF β-amyloid 42 and Tau in neurodegenerative diseases in the Chinese population.
Ling-Qi Ye, Xiao-Yan Li, Yan-Bin Zhang, Hong-Rong Cheng, Yin Ma, Dian-Fu Chen

J Neurol Sci· May 2020

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Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.
Shao-Yun Zhao, Li-Xi Li, Yu-Lan Chen, Yi-Jun Chen, Gong-Lu Liu, Dian-Fu Chen

CNS Neurosci Ther· January 2020

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Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing.
Bin Jiang, Jiong Zhou, Hong-Lei Li, Yan-Gui Chen, Hong-Rong Cheng, Dian-Fu Chen

Neurobiol Aging· April 2019

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SETD4 Regulates Cell Quiescence and Catalyzes the Trimethylation of H4K20 during Diapause Formation in Artemia.
Li Dai, Sen Ye, Hua-Wei Li, Dian-Fu Chen, Hong-Liang Wang, Cheng Lin

Mol Cell Biol· April 2017

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Molecular characterization and functional analyses of a diapause hormone receptor-like gene in parthenogenetic Artemia.
Hui-Li Ye, Dong-Rui Li, Jin-Shu Yang, Dian-Fu Chen, Stephanie De Vos

Peptides· April 2017

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The RNA-editing deaminase ADAR is involved in stress resistance of Artemia diapause embryos.
Li Dai, Xue-Chen Liu, Sen Ye, Hua-Wei Li, Dian-Fu Chen

Stress· November 2016

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An La-related protein controls cell cycle arrest by nuclear retrograde transport of tRNAs during diapause formation in Artemia.
Dian-Fu Chen, Cheng Lin, Hong-Liang Wang, Li Zhang, Li Dai

BMC Biol· March 2016

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The Transcription Factor p8 Regulates Autophagy in Response to Palmitic Acid Stress via a Mammalian Target of Rapamycin (mTOR)-independent Signaling Pathway.
Sheng-Nan Jia, Cheng Lin, Dian-Fu Chen, An-Qi Li, Li Dai

J Biol Chem· February 2016

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