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Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in .

作者信息

Mol Merel O, Nijmeijer Sebastiaan W R, van Rooij Jeroen G J, van Spaendonk Resie M L, Pijnenburg Yolande A L, van der Lee Sven J, van Minkelen Rick, Donker Kaat Laura, Rozemuller Annemieke J M, Janse van Mantgem Mark R, van Rheenen Wouter, van Es Michael A, Veldink Jan H, Hennekam Frederic A M, Vernooij Meike, van Swieten John C, Cohn-Hokke Petra E, Seelaar Harro, Dopper Elise G P

机构信息

Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands

Department of Clinical Genetics, Amsterdam UMC, Location VU University Medical Center, Amsterdam, The Netherlands.

出版信息

J Neurol Neurosurg Psychiatry. 2021 Jul;92(7):787-789. doi: 10.1136/jnnp-2020-325150. Epub 2021 Jan 15.

DOI:10.1136/jnnp-2020-325150
PMID:33452055
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8223666/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aad0/8223666/27c070ea5264/jnnp-2020-325150f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aad0/8223666/27c070ea5264/jnnp-2020-325150f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aad0/8223666/27c070ea5264/jnnp-2020-325150f01.jpg

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本文引用的文献

1
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.家族性额颞叶痴呆的潜在遗传变异:198 例患者的测序。
Neurobiol Aging. 2021 Jan;97:148.e9-148.e16. doi: 10.1016/j.neurobiolaging.2020.07.014. Epub 2020 Jul 30.
2
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report.边缘系统为主的年龄相关性 TDP-43 脑病(LATE):共识工作组报告。
Brain. 2019 Jun 1;142(6):1503-1527. doi: 10.1093/brain/awz099.
3
Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.
ALS-FTD 谱中的新型数据驱动型脑萎缩亚型和分期。
Transl Neurodegener. 2023 Dec 7;12(1):57. doi: 10.1186/s40035-023-00389-3.
4
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study.行为变异额颞叶痴呆中跨遗传水平的神经认知模式:一项多项单病例研究。
BMC Neurol. 2022 Dec 6;22(1):454. doi: 10.1186/s12883-022-02954-1.
定义与 TARDBP 突变相关的额颞叶痴呆谱。
Neurol Genet. 2016 May 26;2(3):e80. doi: 10.1212/NXG.0000000000000080. eCollection 2016 Jun.
4
Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations.与 TARDBP 突变相关的额颞叶痴呆的临床表型和影像学发现。
J Neurol. 2015 Feb;262(2):375-84. doi: 10.1007/s00415-014-7575-5. Epub 2014 Nov 20.
5
TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy.与语义性痴呆及复杂蛋白病相关的TARDBP基因p.Ile383Val突变
Neuropathol Appl Neurobiol. 2014 Feb;40(2):225-30. doi: 10.1111/nan.12063.