Página principal > Resultados de la búsqueda: Leuzzi, Vincenzo
  Consejos para la búsqueda
Búsqueda avanzada
Buscar colecciones:
Ordenar por: Mostrar resultados: Formato de visualización:
Resultados globales: 3 registros encontrados en 0.02 segundos.
Artículos, Encontrados 3 registros
Artículos Encontrados 3 registros  
1.
14 p, 1.5 MB The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders / Pérez-Dueñas, Belén (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Gorman, Kathleen. (Great Ormond Street Hospital for Children (Londres)) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ortigoza-Escobar, Juan D. (Hospital Sant Joan de Déu (Manresa)) ; Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Danti, Federica R. (Unit of Child Neurology and Psychiatry. Department of Human Neuroscience. Sapienza University of Rome) ; Barwick, Katy (Developmental Neurosciences Programme. Great Ormond Street-Institute of Child Health. University College London) ; Papandreou, Apostolos (Great Ormond Street Hospital for Children (Londres)) ; Ng, Joanne (Gene Transfer Technology Group. Institute for Women's Health. University College London) ; Meyer, Esther (Developmental Neurosciences Programme. Great Ormond Street-Institute of Child Health. University College London) ; Mohammad, Shekeeb S. (Kids Neuroscience Centre and Brain and Mind Centre. Faculty of Medicine and Health. University of Sydney) ; Smith, Martin (Department of Pediatric Neurology. John Radcliffe Hospital) ; Muntoni, Francesco (Great Ormond Street Hospital for Children (Londres)) ; Munot, Pinki (Great Ormond Street Hospital for Children (Londres)) ; Uusimaa, Johanna (PEDEGO Research Unit. Department of Children and Adolescents. Medical Research Center Oulu. Oulu University Hospital. University of Oulu) ; Vieira, Päivi (PEDEGO Research Unit. Department of Children and Adolescents. Medical Research Center Oulu. Oulu University Hospital. University of Oulu) ; Sheridan, Eammon (School of Medicine. St James's University Hospital. University of Leeds) ; Guerrini, Renzo (Pediatric Neurology. Neurogenetics and Neurobiology Unit and Laboratories. Neuroscience Department. A. Meyer Children's Hospital. University of Florence) ; Cobben, Jan (North West Thames Regional Genetic Service. Northwick Park Hospital) ; Yilmaz, Sanem (Department of Pediatrics. Division of Child Neurology. Ege University Medical Faculty) ; De Grandis, Elisa (Child Neuropsychiatry Unit. Istituto Giannina Gaslini. Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics and Maternal and Children's Sciences. University of Genoa) ; Dale, Russell C.. (Institute for Neuroscience and Muscle Research. Children's Hospital at Westmead. University of Sydney) ; Pons, Roser (First Department of Pediatrics. Agia Sofia Children's Hospital. National and Kapodistrian University of Athens) ; Peall, Kathryn J. (Neuroscience and Mental Health Research Institute. Institute of Psychological Medicine and Clinical Neurosciences. School of Medicine. Cardiff University) ; Leuzzi, Vincenzo (Unit of Child Neurology and Psychiatry. Department of Human Neuroscience. Sapienza University of Rome) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres))
Background and Objective: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. [...]
2022 - 10.1002/mds.29182
Movement Disorders, 2022  
Registro completo - Creative Commons
2.
5 p, 885.6 KB Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Opladen, Thomas (University Children's Hospital (Alemanya)) ; López-Laso, Eduardo (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ; Sivri, H. Serap (Hacettepe University) ; Yildiz, Yilmaz (Hacettepe University) ; Assmann, Birgit (University Children's Hospital) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ; Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Heales, Simon (National Hospital (Regne Unit)) ; Pope, Simon (National Hospital (Regne Unit)) ; Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics (Itàlia)) ; García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Honzík, Tomáš (Charles University) ; Pons, Roser (Aghia Sofia Hospital) ; Regal, Luc (Pediatric Neurology and Metabolism Unit (Bèlgica)) ; Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ; Artuch, R. (Institut de Recerca Sant Joan de Déu) ; Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics) ; Thöny, Beat (University Children's Hospital Zurich) ; Scholl-Bürgi, Sabine (Medical University of Innsbruck) ; Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ; Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ; Mastrangelo, Mario (Sapienza University of Rome) ; Friedman, Jennifer (Rady Children's Institute for Genomic Medicine) ; Wassenberg, Tessa (Pediatric Neurology and Metabolism Unit (Bèlgica)) ; Jeltsch, Kathrin (University Children's Hospital) ; Kulhánek, Jan (Charles University) ; Kuseyri Hübschmann, Oya (University Children's Hospital) ; Universitat Autònoma de Barcelona
2020 - 10.1186/s13023-020-01464-y
Orphanet Journal of Rare Diseases, Vol. 15 (august 2020)  
Registro completo - Creative Commons
3.
30 p, 1.7 MB Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies / Opladen, Thomas (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; López-Laso, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ; Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ; Sivri, H. Serap (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Yildiz, Yilmaz (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Assmann, Birgit (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ; Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Heales, Simon (National Hospital. Neurometabolic Unit) ; Pope, Simon (National Hospital. Neurometabolic Unit) ; Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics) ; García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Honzík, Tomáš (Charles University. Faculty of Medicine in Hradec Králové) ; Pons, Roser (Aghia Sofia Hospital. First Department of Pediatrics of the University of Athens) ; Regal, Luc (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ; Artuch, R. (Institut de Recerca Sant Joan de Déu) ; Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital) ; Thöny, Beat (University Children's Hospital Zurich. Division of Metabolism) ; Scholl-Bürgi, Sabine (Medical University of Innsbruck. Clinic for Pediatrics I) ; Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ; Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ; Mastrangelo, Mario (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Friedman, Jennifer (Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine. UCSD Departments of Neuroscience and Pediatrics) ; Wassenberg, Tessa (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Jeltsch, Kathrin (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kulhánek, Jan (Charles University. Faculty of Medicine in Hradec Králové) ; Kuseyri Hübschmann, Oya (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Universitat Autònoma de Barcelona
Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. [...]
2020 - 10.1186/s13023-020-01379-8
Orphanet Journal of Rare Diseases, Vol. 15 (may 2020)  
Registro completo - Creative Commons

Vea también: autores con nombres similares
2 Leuzzi, Vincenco
¿Le interesa recibir alertas sobre nuevos resultados de esta búsqueda?
Defina una alerta personal vía correo electrónico o subscríbase al canal RSS.
Depósito Digital de Documentos de la UAB :: Buscar :: Enviar :: Personalizar :: Ayuda
Powered by Invenio v1.1.6
Mantenido por ddd.bib@uab.cat  :: Metadatos sujetos a:
Colaboramos