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1
Accumulation of phosphorylated TDP-43 in the CNS of a patient with Cockayne syndrome.Cockayne 综合征患者中枢神经系统中磷酸化 TDP-43 的积累。
Neuropathology. 2013 Dec;33(6):673-7. doi: 10.1111/neup.12038. Epub 2013 Apr 14.
2
Neuroimaging in Cockayne syndrome.Cockayne 综合征的神经影像学研究。
AJNR Am J Neuroradiol. 2010 Oct;31(9):1623-30. doi: 10.3174/ajnr.A2135. Epub 2010 Jun 3.
3
GPi-pallidal stimulation to treat generalized dystonia in Cockayne syndrome.
Mov Disord. 2010 Apr 15;25(5):656-8. doi: 10.1002/mds.22992.
4
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.CSB/ERCC6 和 CSA/ERCC8 基因突变更新与 Cockayne 综合征相关。
Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.
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Cockayne syndrome in adults: review with clinical and pathologic study of a new case.成人科凯恩综合征：结合一例新病例的临床与病理研究进行综述
J Child Neurol. 2006 Nov;21(11):991-1006. doi: 10.1177/08830738060210110101.
6
Deep brain stimulation to treat hyperkinetic symptoms of Cockayne syndrome.
Mov Disord. 2006 Jan;21(1):112-5. doi: 10.1002/mds.20665.
7
Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels.
J Med Genet. 2000 Jul;37(7):553-7. doi: 10.1136/jmg.37.7.553.
8
Cockayne's syndrome. Report of case with necropsy findings.科凯恩综合征。尸检结果病例报告。
Acta Neuropathol. 1969 Sep 9;14(1):52-61. doi: 10.1007/BF00687702.
9
Cockayne syndrome: review of 140 cases.科凯恩综合征：140例病例回顾
Am J Med Genet. 1992 Jan 1;42(1):68-84. doi: 10.1002/ajmg.1320420115.

Movement Disorders and Spinal Cord Atrophy in Cockayne Syndrome with Prolonged Survival.

作者信息

Planas-Ballvé Anna, Morales-Briceño Hugo, Crespo-Cuevas Ane Miren, Fung Victor S C

机构信息

Movement Disorders Unit, Department of Neurology Westmead Hospital Australia.

Department of Neurology Hospital Universitari Germans Trias i Pujol Badalona Barcelona Spain.

出版信息

Mov Disord Clin Pract. 2018 Mar 2;5(2):209-211. doi: 10.1002/mdc3.12588. eCollection 2018 Mar-Apr.

DOI:10.1002/mdc3.12588
PMID:33999981
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6336154/
Abstract
摘要