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Jan 14, 2022 (publication date) through Apr 27, 2024
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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 |
| Number | Citing Articles |
| 1 |
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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| 2 |
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; doi: 10.2169/internalmedicine.3101-23
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| 3 |
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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| 4 |
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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| 5 |
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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| 6 |
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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| 7 |
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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