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Myotonic Dystrophy Type 1 With Cerebellar Ataxia and Cerebellar Atrophy.

作者信息

Ling Chen, Wang Jianchun, Zheng Yiming, Sun Yunchuang

机构信息

Department of Neurology, Peking University First Hospital, Beijing, China.

Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

出版信息

J Clin Neurol. 2024 Sep;20(5):539-541. doi: 10.3988/jcn.2024.0086.

DOI:10.3988/jcn.2024.0086
PMID:39227338
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11372209/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffee/11372209/1b71e91e161b/jcn-20-539-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffee/11372209/1b71e91e161b/jcn-20-539-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffee/11372209/1b71e91e161b/jcn-20-539-g001.jpg

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本文引用的文献

1
The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy.运动障碍学会多系统萎缩诊断标准。
Mov Disord. 2022 Jun;37(6):1131-1148. doi: 10.1002/mds.29005. Epub 2022 Apr 21.
2
Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1.进行性核上性麻痹与桥小脑萎缩及1型强直性肌营养不良共存。
J Neuropathol Exp Neurol. 2019 Aug 1;78(8):756-762. doi: 10.1093/jnen/nlz048.
3
Current Progress in CNS Imaging of Myotonic Dystrophy.强直性肌营养不良症中枢神经系统成像的当前进展
Front Neurol. 2018 Aug 21;9:646. doi: 10.3389/fneur.2018.00646. eCollection 2018.
4
Brain imaging in myotonic dystrophy type 1: A systematic review.1型强直性肌营养不良的脑成像:一项系统综述。
Neurology. 2017 Aug 29;89(9):960-969. doi: 10.1212/WNL.0000000000004300. Epub 2017 Aug 2.
5
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.强直性肌营养不良小鼠模型中胶质细胞谷氨酸转运体GLT1的下调与浦肯野细胞功能障碍
Cell Rep. 2017 Jun 27;19(13):2718-2729. doi: 10.1016/j.celrep.2017.06.006.
6
Myotonic dystrophy: diagnosis, management and new therapies.强直性肌营养不良症:诊断、管理与新疗法
Curr Opin Neurol. 2014 Oct;27(5):599-606. doi: 10.1097/WCO.0000000000000128.
7
Somatic instability of CTG repeats in the cerebellum of myotonic dystrophy type 1.肌强直性营养不良 1 型小脑 CTG 重复的体细胞不稳定性。
Muscle Nerve. 2013 Jul;48(1):105-8. doi: 10.1002/mus.23717. Epub 2013 Apr 29.
8
Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient.一名患者同时患有马查多-约瑟夫病/SCA3型和1型强直性肌营养不良症。
Clin Neurol Neurosurg. 2009 Dec;111(10):791-4. doi: 10.1016/j.clineuro.2009.07.016. Epub 2009 Aug 26.
9
Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia.1型强直性肌营养不良症和脊髓小脑共济失调患者中同时存在的三核苷酸重复序列扩增
J Clin Neuromuscul Dis. 2008 Sep;10(1):22-3. doi: 10.1097/CND.0b013e318182105f.
10
Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy.
Hum Genet. 1996 Aug;98(2):138-40. doi: 10.1007/s004390050176.