Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
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| Title: | Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. |
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| Authors: | Wilson GR; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Sim JC; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., McLean C; Anatomical Pathology, The Alfred, Melbourne, VIC 3181, Australia; Australian Brain Bank Network, National Neuroscience Facility, Melbourne, VIC 3053, Australia., Giannandrea M; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy; Pharmaceutical Research and Early Development, Neuroscience, Ophthalmology, and Rare Diseases, F. Hoffmann-La Roche, Grenzacherstrasse 124, Basel 4070, Switzerland., Galea CA; Medicinal Chemistry, Monash Institute of Pharmaceutical Sciences, Monash University, Melbourne, VIC 3052, Australia., Riseley JR; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Stephenson SE; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Fitzpatrick E; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Haas SA; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany., Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Hogan KJ; Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53792, USA., Gregg RG; Department of Biochemistry and Molecular Biology, Center for Genetics and Molecular Medicine, University of Louisville, Louisville, KY 40202, USA., Bromhead CJ; Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia., Wargowski DS; Waisman Center, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA., Lawrence CH; Office of the State Forensic Pathologist, Royal Hobart Hospital, Hobart, TAS 7000, Australia., James PA; Genetic Medicine Department, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia., Churchyard A; Department of Neurology, Monash Children's Hospital, Melbourne, VIC 3168, Australia., Gao Y; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Phelan DG; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Gillies G; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Salce N; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia., Stanford L; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239-3098, USA., Marsh AP; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Mignogna ML; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy; Pharmaceutical Research and Early Development, Neuroscience, Ophthalmology, and Rare Diseases, F. Hoffmann-La Roche, Grenzacherstrasse 124, Basel 4070, Switzerland., Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239-3098, USA., Leventer RJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Clinical Genetics, Austin Health, Melbourne, VIC 3084, Australia., Mellick GD; Eskitis Institute for Drug Discovery, Griffith University, Nathan, QLD 4111, Australia., Kalscheuer VM; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany., D'Adamo P; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy., Bahlo M; Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC 3010, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3010, Australia., Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au. |
| Source: | American journal of human genetics [Am J Hum Genet] 2014 Dec 04; Vol. 95 (6), pp. 729-35. Date of Electronic Publication: 2014 Nov 26. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 25434005 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Wilson+GR%22">Wilson GR</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Sim+JC%22">Sim JC</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22McLean+C%22">McLean C</searchLink>; Anatomical Pathology, The Alfred, Melbourne, VIC 3181, Australia; Australian Brain Bank Network, National Neuroscience Facility, Melbourne, VIC 3053, Australia.<br /><searchLink fieldCode="AU" term="%22Giannandrea+M%22">Giannandrea M</searchLink>; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy; Pharmaceutical Research and Early Development, Neuroscience, Ophthalmology, and Rare Diseases, F. Hoffmann-La Roche, Grenzacherstrasse 124, Basel 4070, Switzerland.<br /><searchLink fieldCode="AU" term="%22Galea+CA%22">Galea CA</searchLink>; Medicinal Chemistry, Monash Institute of Pharmaceutical Sciences, Monash University, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Riseley+JR%22">Riseley JR</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Stephenson+SE%22">Stephenson SE</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Fitzpatrick+E%22">Fitzpatrick E</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Haas+SA%22">Haas SA</searchLink>; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany.<br /><searchLink fieldCode="AU" term="%22Pope+K%22">Pope K</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Hogan+KJ%22">Hogan KJ</searchLink>; Department of Anesthesiology, School of Medicine and Public Health, University of Wisconsin, Madison, WI 53792, USA.<br /><searchLink fieldCode="AU" term="%22Gregg+RG%22">Gregg RG</searchLink>; Department of Biochemistry and Molecular Biology, Center for Genetics and Molecular Medicine, University of Louisville, Louisville, KY 40202, USA.<br /><searchLink fieldCode="AU" term="%22Bromhead+CJ%22">Bromhead CJ</searchLink>; Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Wargowski+DS%22">Wargowski DS</searchLink>; Waisman Center, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53705, USA.<br /><searchLink fieldCode="AU" term="%22Lawrence+CH%22">Lawrence CH</searchLink>; Office of the State Forensic Pathologist, Royal Hobart Hospital, Hobart, TAS 7000, Australia.<br /><searchLink fieldCode="AU" term="%22James+PA%22">James PA</searchLink>; Genetic Medicine Department, Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.<br /><searchLink fieldCode="AU" term="%22Churchyard+A%22">Churchyard A</searchLink>; Department of Neurology, Monash Children's Hospital, Melbourne, VIC 3168, Australia.<br /><searchLink fieldCode="AU" term="%22Gao+Y%22">Gao Y</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Phelan+DG%22">Phelan DG</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Gillies+G%22">Gillies G</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Salce+N%22">Salce N</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Stanford+L%22">Stanford L</searchLink>; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239-3098, USA.<br /><searchLink fieldCode="AU" term="%22Marsh+AP%22">Marsh AP</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Mignogna+ML%22">Mignogna ML</searchLink>; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy; Pharmaceutical Research and Early Development, Neuroscience, Ophthalmology, and Rare Diseases, F. Hoffmann-La Roche, Grenzacherstrasse 124, Basel 4070, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hayflick+SJ%22">Hayflick SJ</searchLink>; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239-3098, USA.<br /><searchLink fieldCode="AU" term="%22Leventer+RJ%22">Leventer RJ</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Delatycki+MB%22">Delatycki MB</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Clinical Genetics, Austin Health, Melbourne, VIC 3084, Australia.<br /><searchLink fieldCode="AU" term="%22Mellick+GD%22">Mellick GD</searchLink>; Eskitis Institute for Drug Discovery, Griffith University, Nathan, QLD 4111, Australia.<br /><searchLink fieldCode="AU" term="%22Kalscheuer+VM%22">Kalscheuer VM</searchLink>; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin 14195, Germany.<br /><searchLink fieldCode="AU" term="%22D'Adamo+P%22">D'Adamo P</searchLink>; Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy.<br /><searchLink fieldCode="AU" term="%22Bahlo+M%22">Bahlo M</searchLink>; Bioinformatics Division, Walter and Eliza Hall Institute, Melbourne, VIC 3052, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne, VIC 3010, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3010, Australia.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2014 Dec 04; Vol. 95 (6), pp. 729-35. <i>Date of Electronic Publication: </i>2014 Nov 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ajhg.2014.10.015 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 729 Titles: – TitleFull: Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Wilson GR – PersonEntity: Name: NameFull: Sim JC – PersonEntity: Name: NameFull: McLean C – PersonEntity: Name: NameFull: Giannandrea M – PersonEntity: Name: NameFull: Galea CA – PersonEntity: Name: NameFull: Riseley JR – PersonEntity: Name: NameFull: Stephenson SE – PersonEntity: Name: NameFull: Fitzpatrick E – PersonEntity: Name: NameFull: Haas SA – PersonEntity: Name: NameFull: Pope K – PersonEntity: Name: NameFull: Hogan KJ – PersonEntity: Name: NameFull: Gregg RG – PersonEntity: Name: NameFull: Bromhead CJ – PersonEntity: Name: NameFull: Wargowski DS – PersonEntity: Name: NameFull: Lawrence CH – PersonEntity: Name: NameFull: James PA – PersonEntity: Name: NameFull: Churchyard A – PersonEntity: Name: NameFull: Gao Y – PersonEntity: Name: NameFull: Phelan DG – PersonEntity: Name: NameFull: Gillies G – PersonEntity: Name: NameFull: Salce N – PersonEntity: Name: NameFull: Stanford L – PersonEntity: Name: NameFull: Marsh AP – PersonEntity: Name: NameFull: Mignogna ML – PersonEntity: Name: NameFull: Hayflick SJ – PersonEntity: Name: NameFull: Leventer RJ – PersonEntity: Name: NameFull: Delatycki MB – PersonEntity: Name: NameFull: Mellick GD – PersonEntity: Name: NameFull: Kalscheuer VM – PersonEntity: Name: NameFull: D'Adamo P – PersonEntity: Name: NameFull: Bahlo M – PersonEntity: Name: NameFull: Amor DJ – PersonEntity: Name: NameFull: Lockhart PJ IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 12 Text: 2014 Dec 04 Type: published Y: 2014 Identifiers: – Type: issn-electronic Value: 1537-6605 Numbering: – Type: volume Value: 95 – Type: issue Value: 6 Titles: – TitleFull: American journal of human genetics Type: main |
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