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14 p, 1.5 MB |
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
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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
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5 p, 885.6 KB |
Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
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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)
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30 p, 1.7 MB |
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies
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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)
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39 p, 1.4 MB |
Stick Akí
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Puigbò Pons, Roser ;
Pérez Creus, Montserrat, dir. (Universitat Autònoma de Barcelona. Departament de Comunicació Audiovisual i Publicitat) ;
Universitat Autònoma de Barcelona.
Facultat de Ciències de la Comunicació
El projecte és la creació d'un programa radiofònic en forma podcast sobre l'hoquei herba. L'objectiu és utilitzar Internet com una finestra per fer arribar a tothom un esport considerat minoritari. [...]
El proyecto es la creación de un programa radiofónico en forma de podcast sobre el hockey hierba. El objetivo es utilizar Internet como una ventana para hacer llegar a todos un deporte considerado minoritario. [...]
The project is the creation of a radio program in podcast format about field hockey. The goal is to use Internet as a window to bring everyone a minority considered sport. The project ignores rigorous current affairs and deals with the most humane point of view of sport through stories. [...]
2018
Grau en Periodisme [971]
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17 p, 1.1 MB |
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine : clinical, genetic, and functional studies
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Carreño, Oriel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Corominas, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Serra, Selma Angèlica (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Sintas, Cèlia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fernández-Castillo, Noelia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Vila-Pueyo, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Toma, Claudio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Gené, Gemma G. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Pons, Roser (University of Athens. First Department of Pediatrics) ;
Llaneza, Miguel (Sección de Neurología, Complejo Hospitalario Arquitecto Marcide-Novoa Santos) ;
Sobrido, María-Jesús (Fundación Pública Galega de Medicina Xenómica) ;
Grinberg, Daniel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Valverde, Miguel Ángel (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Fernández-Fernández, José Manuel (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cormand, Bru (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial and in sporadic cases. [...]
2013 - 10.1002/mgg3.24
Molecular genetics & genomic medicine, Vol. 1 (july 2013) , p. 206-222
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