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Unusual Presentation of -Related Neurodegeneration with Retinal Vasculitis.

作者信息

Mehta Sahil, Takkar Aastha, Singh Deependra, Aggarwal Aniruddha, Lal Vivek

机构信息

Department of Neurology Post Graduate Institute of Medical Education and Research Chandigarh India.

Department of Ophthalmology Post Graduate Institute of Medical Education and Research Chandigarh India.

出版信息

Mov Disord Clin Pract. 2021 Nov 18;9(1):113-117. doi: 10.1002/mdc3.13364. eCollection 2022 Jan.

DOI:10.1002/mdc3.13364
PMID:35005075
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8721824/
Abstract
摘要

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Parkinsonism Relat Disord. 2021 Sep;90:49-51. doi: 10.1016/j.parkreldis.2021.07.026. Epub 2021 Jul 28.
2
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.成人发病 PLA2G6 相关性神经退行性变的基因型-表型相关性：病例系列和文献复习。
BMC Neurol. 2020 Mar 17;20(1):101. doi: 10.1186/s12883-020-01684-6.
3
PLA2G6 -Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation.PLA2G6相关神经退行性变：两例临床表现差异显著的同胞兄妹中一种新突变的报告。
Mov Disord Clin Pract. 2016 Nov 4;4(1):129-131. doi: 10.1002/mdc3.12419. eCollection 2017 Jan-Feb.
4
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.PLA2G6相关神经退行性变（PLAN）：临床表型与基因型综述
Front Neurol. 2018 Dec 18;9:1100. doi: 10.3389/fneur.2018.01100. eCollection 2018.
5
Neurodegeneration with brain iron accumulation.伴脑铁沉积的神经退行性变
Handb Clin Neurol. 2018;147:293-305. doi: 10.1016/B978-0-444-63233-3.00019-1.
6
Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I.I型脑铁沉积神经退行性变非典型形式中的视觉和眼球运动功能
Br J Ophthalmol. 2018 Jan;102(1):102-108. doi: 10.1136/bjophthalmol-2017-310181. Epub 2017 May 9.
7
Involvement of plasmalogens in post-natal retinal vascular development.缩醛磷脂在出生后视网膜血管发育中的作用。
PLoS One. 2014 Jun 25;9(6):e101076. doi: 10.1371/journal.pone.0101076. eCollection 2014.
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Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.以向下性眼球震颤为首发症状的婴儿神经轴索性营养不良：一例报告
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