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Listar por autor "Villarejo-Galende, Alberto"

Mostrando ítems 1-3 de 3

    • 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 ; 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 ; 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 ...

    • Manejo de los síntomas psicológicos y conductuales en los pacientes con demencia 

      Villarejo-Galende, Alberto; García, Alba; Herrero, Alejandro; Puertas-Martín, Verónica (Publicaciones Permanyer, 2020)
      Behavioural and psychological symptoms of dementia are very common and stressful for patients and caregivers. The causes include biological, psychological, environmental, and social factors that have to be addressed in an ...