• Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene 

      González-Ortega, Guillermo; Llamas-Velasco, Sara; Arteche-López, Ana; Quesada Espinosa, Juan Francisco; Puertas-Martín, Verónica (1); Gómez-Grande, Adolfo; López-Álvarez, Jorge; Saiz Díaz, Rosa Ana; Lezana-Rosales, José Miguel; Villarejo-Galende, Alberto; González de la Aleja, Jesús (IOS Press BV, 2021)
      The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND ...
    • 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 (1); 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 ...