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A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy

Right temporal variant frontotemporal dementia, also called right-predominant semantic dementia, often has an unclear position within the framework of the updated diagnostic criteria for behavioral variant frontotemporal dementia or primary progressive aphasia. Recent studies have suggested that thi...

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Detalles Bibliográficos
Autores principales: Mori, Kohji, Shigenobu, Kazue, Beck, Goichi, Uozumi, Ryota, Satake, Yuto, Suzuki, Maki, Kondo, Shizuko, Gotoh, Shiho, Yonenobu, Yuki, Kawai, Makiko, Suzuki, Yuki, Saito, Yuko, Morii, Eiichi, Hasegawa, Masato, Mochizuki, Hideki, Murayama, Shigeo, Ikeda, Manabu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413539/
https://www.ncbi.nlm.nih.gov/pubmed/37563653
http://dx.doi.org/10.1186/s40478-023-01629-3