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Dystonia: A novel sign of the Smith-Magenis syndrome - A three-case report.

作者信息

Kunc Lukáš, Havránková Petra, Škorvánek Matěj, Příhodová Iva, Poláková Kamila, Nosková Lenka, Tesařová Markéta, Honzík Tomáš, Zech Michael, Jech Robert

机构信息

Department of Neurology, 1st Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czech Republic.

Department of Neurology and Center for Rare Movement Disorders, Faculty of Medicine, P. J. Safarik University and University Hospital L. Pasteur, Kosice, Slovak Republic.

出版信息

Clin Park Relat Disord. 2024 Aug 6;11:100267. doi: 10.1016/j.prdoa.2024.100267. eCollection 2024.

DOI:10.1016/j.prdoa.2024.100267
PMID:39224875
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11367135/
Abstract
摘要

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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.视黄酸诱导的 1 号基因单倍剂量不足改变脂质代谢,导致 Smith-Magenis 综合征发生自噬缺陷。
Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7.
2
Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.遗传痉挛性疾病与神经发育障碍的交集:基因组测序的启示。
Parkinsonism Relat Disord. 2022 Sep;102:131-140. doi: 10.1016/j.parkreldis.2022.08.019. Epub 2022 Aug 28.
3
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.基于评分算法的肌张力障碍基因组检测:一项前瞻性验证研究。
Mov Disord. 2021 Aug;36(8):1959-1964. doi: 10.1002/mds.28614. Epub 2021 May 5.
4
Emerging and converging molecular mechanisms in dystonia.扭转痉挛中新兴和趋同的分子机制。
J Neural Transm (Vienna). 2021 Apr;128(4):483-498. doi: 10.1007/s00702-020-02290-z. Epub 2021 Jan 1.
5
The Anatomical Basis for Dystonia: The Motor Network Model.肌张力障碍的解剖学基础:运动网络模型。
Tremor Other Hyperkinet Mov (N Y). 2017 Oct 23;7:506. doi: 10.7916/D8V69X3S. eCollection 2017.
6
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.史密斯-马吉尼斯综合征的基因型-表型相关性:17p11.2区域多个基因对临床谱有贡献的证据
Genet Med. 2006 Jul;8(7):417-27. doi: 10.1097/01.gim.0000228215.32110.89.
7
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).史密斯-马吉尼斯综合征(17p11.2缺失)的神经学和发育特征。
Pediatr Neurol. 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018.
8
Interstitial deletion of (17)(p11.2p11.2) in nine patients.9例患者存在(17)(p11.2p11.2)间质性缺失。
Am J Med Genet. 1986 Jul;24(3):393-414. doi: 10.1002/ajmg.1320240303.