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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

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Title: Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Authors: Sim JC; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Scerri T; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Fanjul-Fernández M; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Riseley JR; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Gillies G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Pope K; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., van Roozendaal H; VUMC School of Medical Sciences, Amsterdam, The Netherlands., Heng JI; The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia., Mandelstam SA; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; University of Melbourne, Department of Radiology, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., McGillivray G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., MacGregor D; Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia., Kannan L; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Maixner W; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia., Harvey AS; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Amor DJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Delatycki MB; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.; Clinical Genetics, Austin Health, Melbourne, Australia., Crino PB; Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA., Bahlo M; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Lockhart PJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Leventer RJ; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.
Source: Annals of neurology [Ann Neurol] 2016 Jan; Vol. 79 (1), pp. 132-7. Date of Electronic Publication: 2015 Dec 12.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
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  Data: <searchLink fieldCode="AU" term="%22Sim+JC%22">Sim JC</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Scerri+T%22">Scerri T</searchLink>; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Fanjul-Fernández+M%22">Fanjul-Fernández M</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Riseley+JR%22">Riseley JR</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Gillies+G%22">Gillies G</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Pope+K%22">Pope K</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22van+Roozendaal+H%22">van Roozendaal H</searchLink>; VUMC School of Medical Sciences, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Heng+JI%22">Heng JI</searchLink>; The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia.<br /><searchLink fieldCode="AU" term="%22Mandelstam+SA%22">Mandelstam SA</searchLink>; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; University of Melbourne, Department of Radiology, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22McGillivray+G%22">McGillivray G</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22MacGregor+D%22">MacGregor D</searchLink>; Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Kannan+L%22">Kannan L</searchLink>; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Maixner+W%22">Maixner W</searchLink>; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Harvey+AS%22">Harvey AS</searchLink>; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Delatycki+MB%22">Delatycki MB</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.; Clinical Genetics, Austin Health, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Crino+PB%22">Crino PB</searchLink>; Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.
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  Data: <searchLink fieldCode="JN" term="%227707449%22">Annals of neurology</searchLink> [Ann Neurol] 2016 Jan; Vol. 79 (1), pp. 132-7. <i>Date of Electronic Publication: </i>2015 Dec 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7707449 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1531-8249 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203645134%22">03645134 </searchLink><i>NLM ISO Abbreviation: </i>Ann Neurol <i>Subsets: </i>MEDLINE
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