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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito, Alessandro; Falace, Antonio; Wagner, Matias; Gal, Moran; Mei, Davide; Conti, Valerio; Pisano, Tiziana; Aprile, Davide; Cerullo, Maria Sabina; De Fusco, Antonio; Giovedì, Silvia; Seibt, Annette; Magen, Daniella; Polster, Tilman; Eran, Ayelet; Stenton, Sarah L; Fiorillo, Chiara; Ravid, Sarit; Mayatepek, Ertan; Hafner, Hava; Wortmann, Saskia; Levanon, Erez Y; Marini, Carla; Mandel, Hanna; Benfenati, Fabio; Distelmaier, Felix; Fassio, Anna; Guerrini, Renzo.
Afiliación
  • Esposito A; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Falace A; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Wagner M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Gal M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of München, Munich, Germany.
  • Mei D; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Conti V; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Pisano T; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel.
  • Aprile D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Cerullo MS; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • De Fusco A; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy.
  • Giovedì S; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Seibt A; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Magen D; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Polster T; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy.
  • Eran A; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Stenton SL; Department of Experimental Medicine, University of Genoa, Genoa, Italy.
  • Fiorillo C; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical faculty, Heinrich Heine University, Duesseldorf, Germany.
  • Ravid S; Rappaport School of Medicine, Technion, Haifa, Israel.
  • Mayatepek E; Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel.
  • Hafner H; Pediatric Epileptology, Bethel Epilepsy Centre, Bielefeld, Germany.
  • Wortmann S; Rappaport School of Medicine, Technion, Haifa, Israel.
  • Levanon EY; Department of Radiology, Rambam Health Care Campus, Haifa, Israel.
  • Marini C; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of München, Munich, Germany.
  • Mandel H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Benfenati F; Paediatric Neurology and Neuromuscular Disorders, IRCCS Gaslini, Genoa, Italy.
  • Distelmaier F; DINOGMI, University of Genoa, Italy.
  • Fassio A; Rappaport School of Medicine, Technion, Haifa, Israel.
  • Guerrini R; Pediatric Neurology Unit and Epilepsy Service, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Brain ; 142(12): 3876-3891, 2019 12 01.
Article en En | MEDLINE | ID: mdl-31688942
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Autofagia / Encéfalo / Proteínas Adaptadoras Transductoras de Señales / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Autofagia / Encéfalo / Proteínas Adaptadoras Transductoras de Señales / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Italia