在携带C9orf72突变和非C9orf72突变的肌萎缩侧索硬化症（ALS）及额颞叶痴呆-43型蛋白（FTLD-TDP）病例中，二肽重复蛋白及下丘脑-垂体轴沿线的TDP-43病理学特征 - Suppr

Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.

作者信息

Dedeene Lieselot, Van Schoor Evelien, Ospitalieri Simona, Ronisz Alicja, Weishaupt Jochen H, Otto Markus, Ludolph Albert C, Scheuerle Angelika, Vandenberghe Rik, Van Damme Philip, Poesen Koen, Thal Dietmar Rudolf

机构信息

Laboratory for Molecular Neurobiomarker Research, Department of Neurosciences, Leuven Brain Institute (LBI), KU Leuven (University of Leuven), Leuven, Belgium.

Laboratory for Neuropathology, Department of Imaging and Pathology, Leuven Brain Institute (LBI), KU Leuven (University of Leuven), O&N IV Herestraat 49-Bus 1032, 3000, Leuven, Belgium.

出版信息

Acta Neuropathol. 2020 Nov;140(5):777-781. doi: 10.1007/s00401-020-02216-9. Epub 2020 Aug 30.

DOI:10.1007/s00401-020-02216-9

PMID:32862270

Abstract

摘要

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Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.在携带C9orf72突变和非C9orf72突变的肌萎缩侧索硬化症（ALS）及额颞叶痴呆-43型蛋白（FTLD-TDP）病例中，二肽重复蛋白及下丘脑-垂体轴沿线的TDP-43病理学特征

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An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology.一例C9orf72基因中有38个（G4C2）重复序列的肌萎缩侧索硬化症病例显示有TDP-43和稀疏的二肽重复蛋白病理改变。

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Dipeptide repeat protein and TDP-43 pathology along the hypothalamic-pituitary axis in C9orf72 and non-C9orf72 ALS and FTLD-TDP cases.

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