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Mitochondrial-Membrane-Protein-Associated Neurodegeneration in Longitudinal Magnetic Resonance Imaging Over 11 Years of Follow-Up.

作者信息

Lee Jiyun, Kim Jin Ju, Lyoo Chul Hyoung, Kim Yun Joong

机构信息

Department of Neurology, Yongin Severance Hospital, Yonsei University Health System, Yongin, Korea.

Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.

出版信息

J Clin Neurol. 2024 Mar;20(2):220-222. doi: 10.3988/jcn.2023.0336.

DOI:10.3988/jcn.2023.0336
PMID:38433486
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10921055/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a94/10921055/b92231b68937/jcn-20-220-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a94/10921055/b92231b68937/jcn-20-220-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a94/10921055/b92231b68937/jcn-20-220-g001.jpg

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BMC Neurol. 2023 Mar 31;23(1):134. doi: 10.1186/s12883-023-03172-z.
2
Case Report: Identification of a Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.病例报告：线粒体膜蛋白相关神经退行性变患者中一种变异体的鉴定。
Front Genet. 2022 Mar 30;13:852374. doi: 10.3389/fgene.2022.852374. eCollection 2022.
3
The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.
c19orf12基因中的p.Thr11Met突变在成年土耳其MPAN患者中很常见。
Parkinsonism Relat Disord. 2017 Jun;39:64-70. doi: 10.1016/j.parkreldis.2017.03.012. Epub 2017 Mar 21.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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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.
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