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Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism.

作者信息

Hwangbo Jin, Park Ki-Seok, Kim Hyun Sung, Choi Jae-Hwan, Lee Jae-Hyeok

机构信息

Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.

Department of Neurology, Gyeongsang National University Changwon Hospital, Gyeongsang National University School of Medicine, Changwon, Korea.

出版信息

J Mov Disord. 2024 Jul;17(3):339-341. doi: 10.14802/jmd.23275. Epub 2024 Mar 27.

DOI:10.14802/jmd.23275
PMID:38533573
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11300395/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2b4/11300395/38248ac59faf/jmd-23275f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2b4/11300395/38248ac59faf/jmd-23275f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2b4/11300395/38248ac59faf/jmd-23275f1.jpg

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本文引用的文献

1
Genotype-phenotype correlates in Joubert syndrome: A review.Joubert 综合征的基因型-表型相关性:综述。
Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3.
2
Primary cilia and ciliary signaling pathways in aging and age-related brain disorders.衰老和与年龄相关的脑疾病中的原发性纤毛和纤毛信号通路。
Neurobiol Dis. 2022 Feb;163:105607. doi: 10.1016/j.nbd.2021.105607. Epub 2021 Dec 31.
3
Clinical and Imaging Profile of Patients with Joubert Syndrome.朱伯特综合征患者的临床及影像学特征
J Mov Disord. 2021 Sep;14(3):231-235. doi: 10.14802/jmd.21066. Epub 2021 Sep 16.
4
Oculomotor Performances Are Associated With Motor and Non-motor Symptoms in Parkinson's Disease.动眼神经功能与帕金森病的运动及非运动症状相关。
Front Neurol. 2018 Nov 28;9:960. doi: 10.3389/fneur.2018.00960. eCollection 2018.
5
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.COACH 综合征中新型 MKS3/TMEM67 突变的功能验证。
Sci Rep. 2017 Aug 31;7(1):10222. doi: 10.1038/s41598-017-10652-z.
6
Primary cilia are critical for Sonic hedgehog-mediated dopaminergic neurogenesis in the embryonic midbrain.初级纤毛对于胚胎中脑 Sonic 刺猬因子介导的多巴胺能神经发生至关重要。
Dev Biol. 2016 Jan 1;409(1):55-71. doi: 10.1016/j.ydbio.2015.10.033. Epub 2015 Nov 2.
7
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.巨脑-基底节-视网膜-多指(趾)综合征:基因分型病例中的脑和脊髓畸形及其对初级纤毛神经发育功能的影响。
Acta Neuropathol. 2012 May;123(5):695-709. doi: 10.1007/s00401-012-0951-2. Epub 2012 Feb 14.
8
Joubert syndrome surviving to adulthood associated with a progressive movement disorder.乔伯特综合征存活至成年并伴有进行性运动障碍。
Mov Disord. 2007 Jan 15;22(2):262-5. doi: 10.1002/mds.21263.