Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Saved in:
Bibliographic Details
Title: Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
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
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2014.10.015