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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria.
Afiliación
  • Micalizzi A; CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Poretti A; Department of Biological and Environmental Sciences, University of Messina, Messina, Italy.
  • Romani M; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
  • Ginevrino M; Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Mazza T; CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Aiello C; CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Zanni G; CSS-Mendel Institute, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Baumgartner B; Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Borgatti R; Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Brockmann K; Pediatric Neurology, Children's Hospital, Landshut, Germany.
  • Camacho A; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Lecco, Italy.
  • Cantalupo G; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University of Goettingen, Goettingen, Germany.
  • Haeusler M; Section of Pediatric Neurology, Hospital Universitario 12 de Octubre, Department of Medicine, Universidad Complutense, Madrid, Spain.
  • Hikel C; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
  • Klein A; Department of Pediatrics, Division of Neuropediatrics and Social Pediatrics, University Hospital, RWTH Aachen, Aachen, Germany.
  • Mandrile G; Social Pediatic Centrum (SPZ), St Vinzenz Hospital, Dinslaken, Germany.
  • Mercuri E; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
  • Rating D; SCDU Medical Genetics, Hospital Città della Salute e della Scienza di Torino, Turin, Italy.
  • Romaniello R; Paediatric Neurology Unit, Catholic University, Rome, Italy.
  • Santorelli FM; Pediatrics, St Marien and St Anna Hospital, Ludwigshafen, Germany.
  • Schimmel M; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Lecco, Italy.
  • Spaccini L; Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
  • Teber S; Division of Pediatric Neurology, Children's Hospital, Klinikum Augsburg, Augsburg, Germany.
  • von Moers A; Clinical Genetic Unit, Department of Women, Mother and Neonates, 'Vittore Buzzi' Children Hospital, Istituti Clinici di Perfezionamento, Milan, Italy.
  • Wente S; Department of Pediatric Neurology, Ankara Pediatrics, Hematology-Oncology Training and Research Hospital, Ankara, Turkey.
  • Ziegler A; Department of Pediatrics, DRK Kliniken Berlin Westend, Berlin, Germany.
  • Zonta A; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University of Goettingen, Goettingen, Germany.
  • Bertini E; Division of Pediatric Neurology, University Children's Hospital Heidelberg, Germany.
  • Boltshauser E; SCDU Medical Genetics, Hospital Città della Salute e della Scienza di Torino, Turin, Italy.
  • Valente EM; Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Eur J Hum Genet ; 24(9): 1262-7, 2016 08.
Article en En | MEDLINE | ID: mdl-26932191
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Cerebelo / Laminina / Quistes / Oftalmopatías / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Italia
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Cerebelo / Laminina / Quistes / Oftalmopatías / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Italia