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Jan 14, 2022 (publication date) through Jun 30, 2025
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Publication Name
World Journal of Clinical Cases
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2307-8960
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
| For: | Huang X, Fan DS. Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report. World J Clin Cases 2022; 10(2): 703-708 [PMID: 35097097 DOI: 10.12998/wjcc.v10.i2.703] |
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| URL: | https://www.wjgnet.com/2307-8960/full/v10/i2/703.htm |
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Tipu Sultan, Giovanna Scorrano, Marta Panciroli, Marilena Christoforou, Javeria Raza Alvi, Armando Di Ludovico, Sameen Qureshi, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden. Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders. Gene 2024; 899: 148119 doi: 10.1016/j.gene.2023.148119
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Shizuka Harada, Yoshiteru Azuma, Yohei Misumi, Hirotaka Hayashi, Soichiro Matsubara, Keiichi Nakahara, Satoko Miyatake, Naomichi Matsumoto, Mitsuharu Ueda. A Novel Mutation of VPS13D-related Disorders with Parkinsonism. Internal Medicine 2024; 63(18): 2551 doi: 10.2169/internalmedicine.3101-23
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Yu-Ming Chang, Yu-Wen Pan, Yen-Yin Chou, Wen-Hao Yu, Meng-Che Tsai. A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D. Brain and Development 2023; 45(10): 603 doi: 10.1016/j.braindev.2023.08.001
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Yue Dong, Milan Jia, Shuang Tan, Xu‐Ying Li, Yang Song, Xianling Wang, Zhanjun Wang, Chaodong Wang. Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese. American Journal of Medical Genetics Part A 2024; 194(12) doi: 10.1002/ajmg.a.63828
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Guangyan Miao, Tina M. Fortier, Haibo Liu, Dorothy P. Schafer, Katherine A. Fitzgerald, Junhao Mao, Eric H. Baehrecke. Microglia promote inflammatory cell death upon neuronal mitochondrial impairment during neurodegeneration. Nature Structural & Molecular Biology 2025; doi: 10.1038/s41594-025-01602-9
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Elizabeth K. Baker, Jingfen Han, William A. Langley, Michael A. Reott, Barbara E. Hallinan, Robert J. Hopkin, Wenying Zhang. RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature. Molecular Genetics and Genomics 2023; 298(5): 1185 doi: 10.1007/s00438-023-02044-y
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Wei-Liang Liu, Fang Li. VPS13D-related disorders: a severe case, review, and genotype–phenotype correlation. Neurocase 2025; 31(3): 133 doi: 10.1080/13554794.2025.2451997
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Xiaomeng Yin, Ruoxi Wang, Andrea Thackeray, Eric H Baehrecke, Mark J Alkema, M -A Félix.
VPS13D mutations affect mitochondrial homeostasis and locomotion in Caenorhabditis elegans
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Emily Rozich, Lynsey K. Randolph, Ryan Insolera. An optimized temporally controlled Gal4 system in Drosophila reveals degeneration caused by adult-onset neuronal Vps13D knockdown. Frontiers in Neuroscience 2023; 17 doi: 10.3389/fnins.2023.1204068
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Martje G. Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann. Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder. International Journal of Molecular Sciences 2023; 24(3): 1874 doi: 10.3390/ijms24031874
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Hussein Algahtani, Bader Shirah, Muhammad Imran Naseer. Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family. Clinical Neurology and Neurosurgery 2024; 240: 108271 doi: 10.1016/j.clineuro.2024.108271
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