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Updated: Jun 19, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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Published on: August 20, 2019

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2个患有TBK1变体-1新型拼接变体,2种蛋白质病变的2个个体的临床病理学特征:一个病例系列

Kimiko Domoto-Reilly1, B Jane Distad1, Danny E Miller1

  • 1From the Department of Neurology (K.D.-R., B.J.D., Y.L., S.J.); Department of Laboratory Medicine and Pathology (D.E.M.); Department of Pediatrics (D.E.M.); Brotman Baty Institute for Precision Medicine (D.E.M.), University of Washington, Seattle, WA; Department of Neurology (D.I.), Swedish Medical Center, Seattle, WA; College of Osteopathic Medicine (A.S.W.), Pacific Northwest University of Health Sciences, Yakima, WA; Department of Laboratory Medicine and Pathology (S.J., C.S.L.); and Department of Medical Genetics (S.J.), University of Washington.

Neurology. Genetics
|July 26, 2024
PubMed
概括

TBK1基因中的致病变体与各种神经疾病有关,包括带TDP-43病理 (FTLD-TDP) 的前性痴呆症. 这项研究详细介绍了TBK1变异携带者的神经病理学,揭示了尽管临床表现不同,但共享的tau病理学.

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