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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato.
Affiliation
  • Romaniello R; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Via D. L. Monza 20, 23842, Bosisio Parini, Lecco, Italy.
  • Arrigoni F; Neuroimaging Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Panzeri E; Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Poretti A; 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.
  • Micalizzi A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Citterio A; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.
  • Bedeschi MF; Department of Biological and Environmental Sciences, University of Messina, Messina, Italy.
  • Berardinelli A; Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.
  • Cusmai R; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • D'Arrigo S; Unit of Child Neurology and Psychiatry, IRCCS "C. Mondino" Foundation, Pavia, Italy.
  • Ferraris A; Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Hackenberg A; Developmental Neurology Division, IRCCS Fondazione Istituto Neurologico C. Besta, Milan, Italy.
  • Kuechler A; Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Mancardi M; Universitäts, Kinderspital Zürich, Eleonorenstiftung, Zürich, Switzerland.
  • Nuovo S; Institut für Humangenetik Essen, Universität Duisburg-Essen, Essen, Germany.
  • Oehl-Jaschkowitz B; Unit of Child Neuropsychiatry Giannina Gaslini Institute, Genoa, Italy.
  • Rossi A; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.
  • Signorini S; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
  • Tüttelmann F; Practice of Human Genetics, Homburg (Saar), Germany.
  • Wahl D; Neuroradiology Unit, Giannina Gaslini Institute, Genoa, Italy.
  • Hehr U; Unit of Child Neurology and Psychiatry, IRCCS "C. Mondino" Foundation, Pavia, Italy.
  • Boltshauser E; Institute of Human Genetics, University of Münster, Münster, Germany.
  • Bassi MT; Private Practice for Human Genetics, Augsburg, Germany.
  • Valente EM; Department of Human Genetics, University of Regensburg, Regensburg, Germany.
  • Borgatti R; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
Eur Radiol ; 27(12): 5080-5092, 2017 Dec.
Article in En | MEDLINE | ID: mdl-28677066
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Cerebellum / Neuroimaging / Mutation / Nervous System Malformations Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Eur Radiol Journal subject: RADIOLOGIA Year: 2017 Document type: Article Affiliation country: Italia Country of publication: Alemania
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tubulin / Cerebellum / Neuroimaging / Mutation / Nervous System Malformations Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Eur Radiol Journal subject: RADIOLOGIA Year: 2017 Document type: Article Affiliation country: Italia Country of publication: Alemania