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本文引用的文献

1
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.7型痉挛性截瘫与运动障碍：超越痉挛性截瘫
Mov Disord Clin Pract. 2022 Apr 1;9(4):522-529. doi: 10.1002/mdc3.13437. eCollection 2022 May.
2
Hereditary Spastic Paraplegia: An Update.遗传性痉挛性截瘫：最新进展
Int J Mol Sci. 2022 Feb 1;23(3):1697. doi: 10.3390/ijms23031697.
3
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.伴接头蛋白复合物 4 相关遗传性痉挛性截瘫的脑 MRI 表现的系统分析。
Neurology. 2021 Nov 9;97(19):e1942-e1954. doi: 10.1212/WNL.0000000000012836. Epub 2021 Sep 20.
4
Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?痉挛性共济失调茫茫大海中的灯塔；SPG11中不容错过的特征有哪些？
Parkinsonism Relat Disord. 2021 Oct;91:181-183. doi: 10.1016/j.parkreldis.2021.04.021. Epub 2021 May 11.
5
Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient.SPG15 致病性变异患者中托吡酯反应性震颤。
Clin Neuropharmacol. 2020 Jul/Aug;43(4):121-122. doi: 10.1097/WNF.0000000000000392.
6
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.遗传性痉挛性截瘫：临床与遗传特征
Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z.
7
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.遗传性痉挛性截瘫SPG15型和SPG11型中的溶酶体异常。
Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389. doi: 10.1002/acn3.64.
8
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
J Neurol. 2014 Feb;261(2):435-7. doi: 10.1007/s00415-013-7216-4. Epub 2013 Dec 24.
9
"Ears of the lynx" sign in a marchiafava-bignami patient: structural basis and fiber-tracking DTI contribution to the understanding of this imaging abnormality.马尔恰尼法-比尼亚米病患者的“猞猁耳”征：结构基础及纤维束示踪扩散张量成像对理解这种影像异常的贡献
J Neuroimaging. 2014 Mar-Apr;24(2):205-7. doi: 10.1111/j.1552-6569.2012.00714.x. Epub 2012 Dec 6.
10
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.SPG15是伴有胼胝体变薄的遗传性痉挛性截瘫的第二大常见病因。
Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59.

Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears.

作者信息

Tuesta Bernaola Mellany, Ganguly Jacky, Bansal Saurabh, Jog Mandar

机构信息

Movement Disorder Centre. London Health Sciences Centre The University of Western Ontario London Canada.

出版信息

Mov Disord Clin Pract. 2022 Jun 1;9(6):832-836. doi: 10.1002/mdc3.13474. eCollection 2022 Aug.

DOI:10.1002/mdc3.13474
PMID:35937475
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9346249/
Abstract
摘要