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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

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第一作者: Romina,Romaniello
第一单位: Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Via D. L. Monza 20, 23842, Bosisio Parini, Lecco, Italy.
作者单位: Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Via D. L. Monza 20, 23842, Bosisio Parini, Lecco, Italy. [1] Neuroimaging Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. [2] Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy. [3] 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.;Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA. [4] Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.;Department of Biological and Environmental Sciences, University of Messina, Messina, Italy. [5] Clinical Genetics Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. [6] Unit of Child Neurology and Psychiatry, IRCCS "C. Mondino" Foundation, Pavia, Italy. [7] Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. [8] Developmental Neurology Division, IRCCS Fondazione Istituto Neurologico C. Besta, Milan, Italy. [9] Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. [10] Universitäts, Kinderspital Zürich, Eleonorenstiftung, Zürich, Switzerland. [11] Institut für Humangenetik Essen, Universität Duisburg-Essen, Essen, Germany. [12] Unit of Child Neuropsychiatry Giannina Gaslini Institute, Genoa, Italy. [13] Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.;Department of Medicine and Surgery, University of Salerno, Salerno, Italy. [14] Practice of Human Genetics, Homburg (Saar), Germany. [15] Neuroradiology Unit, Giannina Gaslini Institute, Genoa, Italy. [16] Institute of Human Genetics, University of Münster, Münster, Germany. [17] Private Practice for Human Genetics, Augsburg, Germany. [18] Department of Human Genetics, University of Regensburg, Regensburg, Germany. [19] Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland. [20] Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy. enzamaria.valente@unipv.it.;Department of Molecular Medicine, University of Pavia, Pavia, Italy. enzamaria.valente@unipv.it. [21] Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Via D. L. Monza 20, 23842, Bosisio Parini, Lecco, Italy. renato.borgatti@bp.lnf.it. [22]
DOI 10.1007/s00330-017-4945-2
PMID 28677066
发布时间 2020-03-30
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