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A Mild Form of Neurodegeneration with Brain Iron Accumulation attributed to Coenzyme A  Synthase Mutation.

作者信息

Hashemi Narges, Nejad Shahrokh Abadi Reza, Alavi Afagh, Tavasoli Ali Reza, Rohani Mohammad

机构信息

Department of Pediatrics, School of Medicine Mashhad University of Medical Sciences Mashhad Iran.

Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran.

出版信息

Mov Disord Clin Pract. 2022 Dec 7;10(2):331-334. doi: 10.1002/mdc3.13624. eCollection 2023 Feb.

DOI:10.1002/mdc3.13624
PMID:36825041
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9941925/
Abstract
摘要

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本文引用的文献

1
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.从遗传数据库计算常染色体隐性遗传性伴脑铁沉积的神经退行性疾病（NBIA）的终生风险。
EBioMedicine. 2022 Mar;77:103869. doi: 10.1016/j.ebiom.2022.103869. Epub 2022 Feb 15.
2
Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.脑铁蓄积性神经退行性变及该病在伊朗的简要报告。
Can J Neurol Sci. 2022 May;49(3):338-351. doi: 10.1017/cjn.2021.124. Epub 2021 Jun 4.
3
MRI of neurodegeneration with brain iron accumulation.脑铁蓄积性神经退行性病变的 MRI 表现。
Curr Opin Neurol. 2020 Aug;33(4):462-473. doi: 10.1097/WCO.0000000000000844.
4
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.
5
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.通过全外显子组测序诊断CoPAN：唤醒沉睡的“虎眼”。
Am J Med Genet A. 2017 Jul;173(7):1878-1886. doi: 10.1002/ajmg.a.38252. Epub 2017 May 10.
6
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.综述：脑铁沉积性神经退行性疾病的疾病分子机制洞察：统一理论
Neuropathol Appl Neurobiol. 2016 Apr;42(3):220-41. doi: 10.1111/nan.12242. Epub 2015 Jun 2.
7
Neurodegeneration with brain iron accumulation: an overview.伴脑铁沉积的神经退行性变：概述
Iran J Child Neurol. 2014 Fall;8(4):1-8.
8
Neurodegeneration with brain iron accumulation: diagnosis and management.脑铁蓄积性神经退行性变：诊断与管理。
J Mov Disord. 2015 Jan;8(1):1-13. doi: 10.14802/jmd.14034. Epub 2015 Jan 13.
9
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.外显子组序列揭示 CoA 合酶突变是脑铁蓄积性神经退行性变的原因。
Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19.
10
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).神经退行性脑铁蓄积症（NBIA）儿童期疾病。
Dev Med Child Neurol. 2011 May;53(5):394-404. doi: 10.1111/j.1469-8749.2011.03955.x.