相似文献
1
The Spectrum of GNAO1 Mutation Can Include Childhood-Onset Isolated Generalized Dystonia.GNAO1 基因突变谱可能包括儿童期起病的孤立性全身性肌张力障碍。
Mov Disord Clin Pract. 2025 Mar;12(3):383-385. doi: 10.1002/mdc3.14291. Epub 2024 Dec 2.
3
Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.GNAO1 相关性肌张力障碍的深部脑刺激：系统评价和荟萃分析。
Neuromodulation. 2024 Apr;27(3):440-446. doi: 10.1016/j.neurom.2023.10.187. Epub 2023 Nov 24.
4
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.复杂儿童起病的多动运动障碍的遗传全景。
Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25.
5
Highlighting the Dystonic Phenotype Related to GNAO1.凸显与 GNAO1 相关的肌张力障碍表型。
Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20.
6
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.GNAO1 脑病的运动障碍谱：深入表型分析和逐个病例分析。
Orphanet J Rare Dis. 2020 Dec 9;15(1):343. doi: 10.1186/s13023-020-01594-3.
7
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.深部脑刺激对 GNAO1 相关严重运动过度的儿科患者有效。
J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.
8
Genotype-phenotype correlation and treatment effects in young patients with -associated disorders.- 相关疾病年轻患者的基因型-表型相关性和治疗效果。
J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24.
9
Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.鼠模型将 GNAO1 脑病表征为一种神经发育障碍，导致运动异常：从严重的 G203R 突变到更轻微的 C215Y 突变。
Acta Neuropathol Commun. 2022 Jan 28;10(1):9. doi: 10.1186/s40478-022-01312-z.
10
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.GNAO1 变异体运动障碍的现象学和临床病程：分析综述结果。
Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16.
本文引用的文献
1
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.GNAO1 相关运动障碍：表型、临床病程和治疗反应的最新进展。
Parkinsonism Relat Disord. 2023 Jun;111:105405. doi: 10.1016/j.parkreldis.2023.105405. Epub 2023 Apr 29.
2
Highlighting the Dystonic Phenotype Related to GNAO1.凸显与 GNAO1 相关的肌张力障碍表型。
Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20.
3
Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report.一名患有GNAO1相关运动障碍患者的神经影像学评估以及使用定向深部脑刺激和左旋多巴的成功治疗：病例报告
J Neurol Sci. 2020 Apr 15;411:116710. doi: 10.1016/j.jns.2020.116710. Epub 2020 Jan 31.
4
Dystonia and dopamine: From phenomenology to pathophysiology.肌张力障碍与多巴胺：从现象学到病理生理学。
Prog Neurobiol. 2019 Nov;182:101678. doi: 10.1016/j.pneurobio.2019.101678. Epub 2019 Aug 9.
5
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.PDE10A 和 ADCY5 突变与基底节区的分子和微观结构病理学相关。
Mov Disord. 2018 Dec;33(12):1961-1965. doi: 10.1002/mds.27523. Epub 2018 Oct 21.
6
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.深部脑刺激对 GNAO1 相关严重运动过度的儿科患者有效。
J Neurol Sci. 2018 Aug 15;391:31-39. doi: 10.1016/j.jns.2018.05.018. Epub 2018 May 22.
7
A mechanistic review on GNAO1-associated movement disorder.GNAO1 相关运动障碍的机制综述。
Neurobiol Dis. 2018 Aug;116:131-141. doi: 10.1016/j.nbd.2018.05.005. Epub 2018 May 24.
8
encephalopathy: Broadening the phenotype and evaluating treatment and outcome.脑病：拓展表型并评估治疗与预后
Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr.
9
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.6例因GNAO1突变导致严重且独特运动障碍的儿童的临床病程
Pediatr Neurol. 2016 Jun;59:81-4. doi: 10.1016/j.pediatrneurol.2016.02.018. Epub 2016 Mar 17.
10
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.GNAO1 基因中的新生突变，该基因编码异三聚体 G 蛋白的 Gαo 亚基，可导致癫痫性脑病。
Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29.
Zotero 插件