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- W2785458369 abstract "We described an autopsied case of amyotrophic lateral sclerosis (ALS)-dementia with p.R487H mutation in the VCP gene. TDP-43-positive neuronal cytoplasmic inclusions (NCI), neuronal intranuclear inclusions (NII) and glial cytoplasmic inclusions were observed in the brain. The frequency of NCI was small but equal to that of NII, an atypical finding for VCP-related disorders. In contrast, the findings in the spinal cord and brainstem closely resembled those of sporadic ALS." @default.
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- W2785458369 date "2018-01-01" @default.
- W2785458369 modified "2023-09-27" @default.
- W2785458369 title "An autopsy case of familial amyotrophic lateral sclerosis and dementia with p.R487H VCP gene mutation" @default.
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- W2785458369 doi "https://doi.org/10.1080/2331205x.2018.1434925" @default.
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