• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Chronic GM1 Gangliosidosis with Characteristic "Wish Bone Sign" on Brain MRI. Another Type of Neurodegeneration with Brain Iron Accumulation?脑MRI具有特征性“叉骨征”的慢性GM1神经节苷脂贮积症。另一种伴有脑铁沉积的神经退行性变类型？
Mov Disord Clin Pract. 2015 Jun 2;2(3):323-325. doi: 10.1002/mdc3.12197. eCollection 2015 Sep.
2
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis.苍白球中的顺磁性信号作为青少年型GM1神经节苷脂病的晚期影像学表现。
Pediatr Neurol. 2015 Feb;52(2):226-9. doi: 10.1016/j.pediatrneurol.2014.09.022. Epub 2014 Oct 16.
3
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.由GLB1基因突变引起的青少年II型GM1神经节苷脂贮积症的病例报告。
BMC Med Genet. 2017 Jul 17;18(1):73. doi: 10.1186/s12881-017-0417-4.
4
Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia.
Acta Neurol Scand. 1992 Dec;86(6):609-15. doi: 10.1111/j.1600-0404.1992.tb05497.x.
5
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.GM1 神经节苷脂贮积症的临床和分子谱。
J Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016.
6
Neurodegeneration with brain iron accumulation: A case report.伴脑铁沉积的神经退行性变：一例报告。
Dement Neuropsychol. 2016 Apr-Jun;10(2):160-164. doi: 10.1590/S1980-5764-2016DN1002014.
7
Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.成人GM1神经节苷脂贮积症的临床特征：3例印度患者报告及40例病例回顾
Mov Disord. 2004 Nov;19(11):1334-41. doi: 10.1002/mds.20193.
8
[Three siblings with type 3 GM1-gangliosidosis--pathophysiology of dystonia and MRI findings].三名患有3型GM1神经节苷脂沉积症的兄弟姐妹——肌张力障碍的病理生理学及MRI表现
Rinsho Shinkeigaku. 1990 Aug;30(8):819-27.
9
Identification of a novel mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.在一个受罕见婴儿型GM1神经节苷脂贮积症影响的巴基斯坦近亲家庭中鉴定出一种新突变。
J Genet. 2018 Dec;97(5):1445-1449.
10
Deep brain stimulation of the globus pallidus for generalized dystonia in GM1 Type 3 gangliosidosis: technical case report.
Neurosurgery. 2006 Dec;59(6):E1340; discussion E1340. doi: 10.1227/01.NEU.0000245620.24603.1B.

引用本文的文献

1
Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes , , , , and : MDSGene Systematic Review.肌张力障碍-帕金森综合征相关基因、、、和的基因型-表型关系：MDS基因系统评价
Int J Mol Sci. 2025 Apr 25;26(9):4074. doi: 10.3390/ijms26094074.
2
Wishbone Sign in GM1 Type III Gangliosidosis.GM1 型神经节苷脂贮积症中的叉骨征。
Ann Indian Acad Neurol. 2023 Jul-Aug;26(4):558-559. doi: 10.4103/aian.aian_530_23. Epub 2023 Aug 24.
3
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.新型突变和分子途径在脑铁蓄积症患者中被发现。
Neurogenetics. 2023 Oct;24(4):231-241. doi: 10.1007/s10048-023-00725-9. Epub 2023 Jul 15.
4
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.与运动障碍和共济失调相关的突变、基因和表型。
Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847.
5
Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.遗传性神经代谢疾病的基因组学和放射基因组学——儿科医生实用入门
Indian J Pediatr. 2019 Oct;86(10):923-938. doi: 10.1007/s12098-019-02860-4. Epub 2019 Jun 13.
6
Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients.泛酸激酶相关神经变性在印度阿格拉瓦尔患者中存在一个奠基者突变（c.215_216insa）。
Mov Disord Clin Pract. 2016 Apr 5;4(1):96-99. doi: 10.1002/mdc3.12341. eCollection 2017 Jan-Feb.

本文引用的文献

1
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.GM1 神经节苷脂沉积病，晚发性婴儿型扭转痉挛，以及苍白球和黑质的 T2 低信号强度。
Pediatr Neurol. 2013 Sep;49(3):195-7. doi: 10.1016/j.pediatrneurol.2013.02.003. Epub 2013 Jul 4.
2
MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.2例晚发性婴儿型GM1神经节苷脂贮积症的磁共振成像表现
AJNR Am J Neuroradiol. 2009 Aug;30(7):1325-7. doi: 10.3174/ajnr.A1508. Epub 2009 Mar 11.
3
Neuroimaging findings in infantile GM1 gangliosidosis.婴儿型GM1神经节苷脂贮积症的神经影像学表现。
Eur J Paediatr Neurol. 2006 Sep-Nov;10(5-6):245-8. doi: 10.1016/j.ejpn.2006.08.005. Epub 2006 Oct 17.
4
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
J Child Neurol. 2005 Jan;20(1):57-60. doi: 10.1177/08830738050200010901.
5
Neuroimaging findings in late infantile GM1 gangliosidosis.晚发性婴儿型GM1神经节苷脂贮积症的神经影像学表现。
AJNR Am J Neuroradiol. 1998 Oct;19(9):1628-30.
6
Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia.
Acta Neurol Scand. 1992 Dec;86(6):609-15. doi: 10.1111/j.1600-0404.1992.tb05497.x.

Chronic GM1 Gangliosidosis with Characteristic "Wish Bone Sign" on Brain MRI. Another Type of Neurodegeneration with Brain Iron Accumulation?

作者信息

Hajirnis Omkar, Udwadia-Hegde Anaita

机构信息

Clinical Fellow in Pediatric Neurology Jaslok Hospital and Research Center Mumbai Maharashtra India.

Consultant Pediatric Neurologist Jaslok Hospital and Research Center Mumbai Maharashtra India.

出版信息

Mov Disord Clin Pract. 2015 Jun 2;2(3):323-325. doi: 10.1002/mdc3.12197. eCollection 2015 Sep.

DOI:10.1002/mdc3.12197
PMID:30838236
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6353390/
Abstract
摘要