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Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

作者信息

Bhambhani Vikas, Introne Wendy J, Lungu Codrin, Cullinane Andrew, Toro Camilo

机构信息

Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

出版信息

Mov Disord. 2013 Feb;28(2):127-9. doi: 10.1002/mds.25386.

DOI:10.1002/mds.25386
PMID:23436631
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3581862/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4932/3581862/69b3c6deb848/nihms437999f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4932/3581862/69b3c6deb848/nihms437999f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4932/3581862/69b3c6deb848/nihms437999f1.jpg

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Commentary for "Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism".《以早发型左旋多巴反应性帕金森综合征为表现的切-东综合征》述评
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本文引用的文献

1
Chediak-Higashi syndrome.切-东综合征
Curr Opin Hematol. 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce.
2
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.切-东综合征中的细胞缺陷与分子基因型和临床表型相关。
J Invest Dermatol. 2007 Nov;127(11):2674-7. doi: 10.1038/sj.jid.5700899. Epub 2007 May 31.
3
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.异基因骨髓移植治疗切-东综合征20年后的进行性神经功能障碍
Chediak-Higashi 综合征突变谱：新型变异的报告及文献综述。
J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420.
4
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.互补DNA测序提高了切-东综合征的分子诊断率。
Front Genet. 2023 Mar 8;14:1072784. doi: 10.3389/fgene.2023.1072784. eCollection 2023.
5
Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson's disease.GBA 相关帕金森病外周血单核细胞和全血转录组失调。
Mol Neurodegener. 2022 Aug 17;17(1):52. doi: 10.1186/s13024-022-00554-8.
6
A Practical Approach to Early-Onset Parkinsonism.早发性帕金森病的实用处理方法。
J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815.
7
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.由于自噬缺陷导致的神经发育、神经肌肉和神经退行性疾病谱。
Autophagy. 2022 Mar;18(3):496-517. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19.
8
Movement Disorders and Hematologic Diseases.运动障碍与血液系统疾病
Mov Disord Clin Pract. 2020 Dec 29;8(2):193-207. doi: 10.1002/mdc3.13129. eCollection 2021 Feb.
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Chediak-Higashi syndrome: a review of the past, present, and future.切-东综合征：过去、现在与未来综述
Drug Discov Today Dis Models. 2020 Summer;31:31-36. doi: 10.1016/j.ddmod.2019.10.008. Epub 2019 Dec 9.
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Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.帕金森综合征及与切-东综合征相关的其他运动障碍：病例报告及系统文献综述
Mov Disord Clin Pract. 2015 Jan 14;2(1):93-98. doi: 10.1002/mdc3.12111. eCollection 2015 Mar.
Blood. 2005 Jul 1;106(1):40-2. doi: 10.1182/blood-2005-01-0319. Epub 2005 Mar 24.
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Am J Med Genet. 2002 Feb 15;108(1):16-22.
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