Suppr超能文献

Late-onset leukoencephalopathy in a patient with recessive mutations.

作者信息

Monfrini Edoardo, Ronchi Dario, Franco Giulia, Garbellini Manuela, Straniero Letizia, Scola Elisa, Arienti Federica, Duga Stefano, Comi Giacomo Pietro, Bresolin Nereo, Di Fonzo Alessio

机构信息

Dino Ferrari Centre (E.M., D.R., F.A., G.P.C., N.B., A.D.F.), Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.M., G.F., M.G., F.A., G.P.C., N.B., A.D.F.), Neurology Unit; Department of Biomedical Sciences (L.S., S.D.), Humanitas University, Pieve Emanuele; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (E.S.), Neuroradiology Unit; and Humanitas Clinical and Research Center (S.D.), IRCCS, Rozzano, Milan, Italy.

出版信息

Neurol Genet. 2020 Jul 13;6(5):e488. doi: 10.1212/NXG.0000000000000488. eCollection 2020 Oct.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d0ed/7413628/19da33ef54ad/NG2020013458f1.jpg

相似文献

1
Late-onset leukoencephalopathy in a patient with recessive mutations.
Neurol Genet. 2020 Jul 13;6(5):e488. doi: 10.1212/NXG.0000000000000488. eCollection 2020 Oct.
2
Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.
Neuropediatrics. 2016 Jan;47(1):64-7. doi: 10.1055/s-0035-1568987. Epub 2015 Nov 30.
4
Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".
J Neurol Sci. 2019 Nov 15;406:116448. doi: 10.1016/j.jns.2019.116448. Epub 2019 Sep 3.
5
[Adult-onset hereditary leukoencephalopathy: classification and molecular basis of the disorder].
Rinsho Shinkeigaku. 2012;52(11):1386-9. doi: 10.5692/clinicalneurol.52.1386.
6
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
Acta Neurol Scand. 2018 Oct;138(4):278-283. doi: 10.1111/ane.12954. Epub 2018 May 10.
7
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Neurology. 2016 Oct 25;87(17):1777-1786. doi: 10.1212/WNL.0000000000003251. Epub 2016 Sep 24.
8
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Brain Dev. 2015 Jun;37(6):638-42. doi: 10.1016/j.braindev.2014.10.002. Epub 2014 Oct 27.
10
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29.

本文引用的文献

2
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Mol Genet Genomic Med. 2019 Apr;7(4):e00582. doi: 10.1002/mgg3.582. Epub 2019 Jan 31.
3
This variant alters protein function, but is it pathogenic?
Neurol Genet. 2017 Jul 14;3(4):e173. doi: 10.1212/NXG.0000000000000173. eCollection 2017 Aug.
4
Functionally pathogenic variants in vitro may not manifest a phenotype in vivo.
Neurol Genet. 2017 Jul 14;3(4):e162. doi: 10.1212/NXG.0000000000000162. eCollection 2017 Aug.
5
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Int J Cell Biol. 2014;2014:787956. doi: 10.1155/2014/787956. Epub 2014 Feb 4.
6
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验