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Primary Familial Brain Calcification With Mutation Presenting With Cognitive Dysfunction.

作者信息

Yoon Sojung, Chung Seok Jong, Kim Yun Joong

机构信息

Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.

Department of Neurology, Yongin Severance Hospital, Yonsei University Health System, Yongin, Korea.

出版信息

J Clin Neurol. 2024 Mar;20(2):229-231. doi: 10.3988/jcn.2023.0284.

DOI:10.3988/jcn.2023.0284
PMID:38433488
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10921053/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/979d/10921053/c565266d4beb/jcn-20-229-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/979d/10921053/c565266d4beb/jcn-20-229-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/979d/10921053/c565266d4beb/jcn-20-229-g001.jpg

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本文引用的文献

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Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review.法尔氏病的神经精神表现、诊断与治疗挑战：一例报告及文献综述
Clin Neuropsychiatry. 2022 Apr;19(2):121-131. doi: 10.36131/cnfioritieditore20220206.
2
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.原发性家族性脑钙化的基因型-表型关系：系统的MDSGene综述
Mov Disord. 2021 Nov;36(11):2468-2480. doi: 10.1002/mds.28753. Epub 2021 Aug 25.
3
Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.
人类无机磷酸盐转运体XPR1的转运及肌醇磷酸门控机制。
Nat Commun. 2025 Mar 20;16(1):2770. doi: 10.1038/s41467-025-58076-y.
4
Structural basis of phosphate export by human XPR1.人类XPR1介导磷酸盐输出的结构基础
Nat Commun. 2025 Jan 15;16(1):683. doi: 10.1038/s41467-025-55995-8.
5
The identification of XPR1 as a voltage- and phosphate-activated phosphate-permeable ion channel.XPR1作为一种电压和磷酸盐激活的磷酸盐通透离子通道的鉴定。
Res Sq. 2024 Dec 11:rs.3.rs-4457423. doi: 10.21203/rs.3.rs-4457423/v1.
原发性家族性脑钙化症导致的脑灌注不足和黑质纹状体多巴胺能功能障碍：病例报告。
BMC Neurol. 2020 Sep 1;20(1):329. doi: 10.1186/s12883-020-01910-1.
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Novel variant in a Japanese patient with idiopathic basal ganglia calcification-1 (IBGC1) associated with dopa-responsive parkinsonism.一名日本特发性基底节钙化症1型（IBGC1）伴多巴反应性帕金森综合征患者的新型变异体。
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