Listar por tema "SQSTM1"

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Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia

Llamas-Velasco, Sara; Arteche-López, Ana; Méndez-Guerrero, Antonio; Puertas-Martín, Verónica ; Quesada Espinosa, Juan Francisco; Lezana Rosales, Jose Miguel; González-Sánchez, Miguel; Blanco-Palmero, Victor Antonio; Palma Milla, Carmen; Herrero-San Martín, Alejandro; Borrego-Hernández, Daniel; García-Redondo, Alberto; Pérez-Martínez, David Andrés; Villarejo-Galende, Alberto (Taylor and Francis Ltd., 2021)

Objective:SQSTM1-variants associated with frontotemporal lobar degeneration have been described recently. In this study, we investigated a heterozygous in-frame duplication c.436_462dup p. (Pro146_Cys154dup) in the SQSTM1 ...