Repositorio Dspace

Listar por autor "Sabater-Molina, María"

Listar por autor "Sabater-Molina, María"

Ordenar por:Orden:Resultados:

  • ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant 
    de-la-Morena-Barrio, María-Eugenia; Sabater-Molina, María; de-la-Morena-Barrio, Belén; Ruhaak, Renee-L; Minano, Antonia; Padilla, José; Toderici, Mara; Roldán, Vanessa; Gimeno, Juan-R; Vicente, Vicente; Corral, Javier (WILEY, 2020-08)
    BACKGROUND: Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting ...
  • Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis 
    Ganapathi, Mythily; Argyriou, Loukas; Martínez-Azorin, Francisco; Morlot, Susanne; Yigit, Gokhan; Lee, Teresa-M; Auber, Bernd; von-Gise, Alexander; Petrey, Donald-S; Thiele, Holger; Cyganek, Lukas; Sabater-Molina, María; Ahimaz, Priyanka; Cabezas-Herrera, Juan; Sorli-García, Moises; Zibat, Arne; Siegelin, Markus-D; Burfeind, Peter; Buchovecky, Christie-M; Hasenfuss, Gerd; Honig, Barry; Li, Yun; Iglesias, Alejandro-D; Wollnik, Bernd (SPRINGER, 2020-11)
    Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by cardiac dilatation and reduced systolic function. Although most cases of DCM are classified as sporadic, 20-30% of ...
  • Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype 
    Hall, Charlotte-L; Akhtar, Mohammed-M; Sabater-Molina, María; Futema, Marta; Asimaki, Ángeliki; ProtonotaRíos, Alexandros; Dalageorgou, Chrysoula; Pittman, Alan-M; Paz-Suárez, Mari; Aguilera, Beatriz; Molina, Pilar; Zorio, Esther; Hernández, Juan-Pedro; Pastor, Francisco; Gimeno, Juan-R; Syrris, Petros; McKenna, William-J (ELSEVIER IRELAND LTD, 2020-05-15)
    BACKGROUND: Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic ...
  • Genetic Factors Involved in Cardiomyopathies and in Cancer 
    Sabater-Molina, María; Navarro-Penalver, Marina; Muñoz-Esparza, Carmen; Esteban-Gil, Ángel; Santos-Mateo, Juan-José; Gimeno, Juan-R (MDPI, 2020-06)
    Cancer therapy-induced cardiomyopathy (CCM) manifests as left ventricular (LV) dysfunction and heart failure (HF). It is associated withparticular pharmacological agents and it is typically dose dependent, but significant ...
  • RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy 
    Hall, Charlotte-L; Gurha, Priyatansh; Sabater-Molina, María; Asimaki, Ángeliki; Futema, Marta; Lovering, Ruth-C; Paz-Suárez, Mari; Aguilera, Beatriz; Molina, Pilar; Zorio, Esther; Coarfa, Cristian; Robertson, Matthew-J; Cheedipudi, Sirisha-M; Ng, Keat-eng; Delaney, Paul; Hernández, Juan-Pedro; Pastor, Francisco; Gimeno, Juan-R; McKenna, William-J; Marian, Ali-J; Syrris, Petros (ELSEVIER IRELAND LTD, 2020-03-01)
    Arrhythmogenic cardiomyopathy (ACM) encompasses a group of inherited cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC) whose molecular disease mechanism is associated with dysregulation of ...