Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, also known as amyotrophic lateral sclerosis 14, is an autosomal dominant, progressive neurodegenerative disorder caused by various mutations in the valosin-containing protein gene. In this report, we examined a 51-year-old female Japane...

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Detalles Bibliográficos
Autores principales: Miura, Shiroh, Hiruki, Shigeyoshi, Okada, Tomohisa, Takei, Satoko Itani, Senzaki, Kensuke, Okada, Yoko, Ochi, Masayuki, Tanabe, Yuki, Ochi, Hirofumi, Igase, Michiya, Ohyagi, Yasumasa, Shibata, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250589/
https://www.ncbi.nlm.nih.gov/pubmed/37303947
http://dx.doi.org/10.3389/fgene.2023.1155998

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250589/
https://www.ncbi.nlm.nih.gov/pubmed/37303947
http://dx.doi.org/10.3389/fgene.2023.1155998

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