المؤلفون: Berecki, G, Helbig, KL, Ware, TL, Grinton, B, Skraban, CM, Marsh, ED, Berkovic, SF, Petrou, S

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/251568
NHMRC/1005050

المؤلفون: Vlaskamp, DRM, Shaw, BJ, Burgess, R, Mei, D, Montomoli, M, Xie, H, Myers, CT, Bennett, MF, XiangWei, W, Williams, D, Maas, SM, Brooks, AS, Mancini, GMS, van de Laar, IMBH, van Hagen, JM, Ware, TL, Webster, RI, Malone, S, Berkovic, SF, Kalnins, RM, Sicca, F, Korenke, GC, van Ravenswaaij-Arts, CMA, Hildebrand, MS, Mefford, HC, Jiang, Y, Guerrini, R, Scheffer, IE

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/250347
NHMRC/1091593
NHMRC/1104831

المؤلفون: Ware, TL, Huskins, SR, Grinton, BE, Liu, Y-C, Bennett, MF, Harvey, M, McMahon, J, Andreopoulos-Malikotsinas, D, Bahlo, M, Howell, KB, Hildebrand, MS, Damiano, JA, Rosenfeld, A, Mackay, MT, Mandelstam, S, Leventer, RJ, Harvey, AS, Freeman, JL, Scheffer, IE, Jones, DL, Berkovic, SF

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/249976
NHMRC/1091593
NHMRC/1104831

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المؤلفون: Rius R; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia; The University of Melbourne, Melbourne, Australia., Compton AG; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Baker NL; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Balasubramaniam S; Sydney Children's Hospitals Network, Westmead, Australia; University of Sydney, Sydney, NSW, Australia., Best S; The University of Melbourne, Melbourne, Australia; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia; Victorian Comprehensive Cancer Centre, Melbourne, VIC, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Bhattacharya K; Sydney Children's Hospitals Network, Westmead, Australia., Boggs K; Sydney Children's Hospitals Network, Westmead, Australia., Boughtwood T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Braithwaite J; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia., Bratkovic D; Women's and Children's Hospital, Adelaide, Australia., Bray A; Sydney Children's Hospitals Network, Westmead, Australia., Brion MJ; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; QIMR Berghofer Medical Research Institute, Brisbane, Australia., Burke J; Tasmanian Clinical Genetics Service, Hobart, Australia; The University of Tasmania, Hobart, Australia., Casauria S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Chong B; Victorian Clinical Genetics Services, Melbourne, Australia., Coman D; Queensland Children's Hospital, Brisbane, Australia; Wesley Hospital, Brisbane, Australia; University of Queensland, Brisbane, Australia., Cowie S; Victorian Clinical Genetics Services, Melbourne, Australia., Cowley M; Children's Cancer Institute, University of New South Wales, NSW, Australia., de Silva MG; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Delatycki MB; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia., Edwards S; Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia., Ellaway C; Sydney Children's Hospitals Network, Westmead, Australia; University of Sydney, Sydney Australia., Fahey MC; Royal Melbourne Hospital, Melbourne, VIC, Australia., Finlay K; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Fletcher J; Royal Adelaide Hospital, Adelaide, Australia., Frajman LE; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia., Frazier AE; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia., Gayevskiy V; Garvan Institute of Medical Research, Sydney, NSW, Australia., Ghaoui R; Royal Adelaide Hospital, Adelaide, Australia., Goel H; John Hunter Hospital, Newcastle, Australia., Goranitis I; The University of Melbourne, Melbourne, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Haas M; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Hock DH; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, Australia., Howting D; Harry Perkins Institute of Medical Research, Perth, Australia., Jackson MR; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Kava MP; Perth Children's Hospital, Perth, Australia., Kemp M; The Australian e-Health Research Centre, CSIRO, Australia., King-Smith S; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Lake NJ; Murdoch Children's Research Institute, Melbourne, Australia; Yale School of Medicine, New Haven, CT, USA., Lamont PJ; Perth Children's Hospital, Perth, Australia; Royal Perth Hospital, Perth, Australia., Lee J; The University of Melbourne, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Royal Children's Hospital, Melbourne, Australia., Long JC; Australian Institute of Health Innovation, Macquarie University, Sydney, Australia., MacShane M; Harry Perkins Institute of Medical Research, Perth, Australia., Madelli EO; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Martin EM; Sydney Children's Hospitals Network, Westmead, Australia., Marum JE; Victorian Clinical Genetics Services, Melbourne, Australia; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia., Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., McGill J; Queensland Children's Hospital, Brisbane, Australia., Metke A; The Australian e-Health Research Centre, CSIRO, Australia., Murray S; Mito Foundation, Sydney, Australia., Panetta J; Royal Melbourne Hospital, Melbourne, Australia., Phillips LK; Mater Hospital, South Brisbane, Australia., Quinn MCJ; Australian Genomics, Genetic Health Queensland, Brisbane, Australia., Ryan MT; Monash University, Melbourne, Australia., Schenscher S; Women's and Children's Hospital, Adelaide, Australia., Simons C; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, NSW, Australia., Smith N; Department of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, Adelaide, South Australia, Australia; Discipline of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia., Stroud DA; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia; Bio 21 Molecular Science and Biotechnology Institute, Melbourne, Australia., Tchan MC; Faculty of Medicine and Health, University of Sydney, Australia; Department of Genetic Medicine, Westmead Hospital, Westmead, Australia., Tom M; Genetic Health Queensland, Brisbane, Australia., Wallis M; Tasmanian Clinical Genetics Service, Hobart, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia; Royal Hobart Hospital, Hobart, Australia., Ware TL; Royal Hobart Hospital, Hobart, Australia., Welch AE; Murdoch Children's Research Institute, Melbourne, Australia., Wools C; Royal Melbourne Hospital, Melbourne, Australia., Wu Y; The University of Melbourne, Melbourne, Australia., Christodoulou J; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia. Electronic address: john.christodoulou@mcri.edu.au., Thorburn DR; The University of Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Victorian Clinical Genetics Services, Melbourne, Australia. Electronic address: david.thorburn@mcri.edu.au.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 17, pp. 101271. Date of Electronic Publication: 2024 Sep 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

المؤلفون: Kooshavar D; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia., Boggs K; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia.; Department of Clinical Genetics, The Children's Hospital Westmead, Westmead, NSW 2145, Australia.; Australian Genomics, Parkville, VIC 3052, Australia., Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Barnett C; SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA 5006, Australia., de Silva MG; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Australian Genomics, Parkville, VIC 3052, Australia., Edwards S; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia., Fahey MC; Department of Paediatrics, Monash University, Clayton, VIC 3168, Australia., Marum JE; Australian Genomics, Parkville, VIC 3052, Australia., Snell P; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Bozaoglu K; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia., Pope K; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Mohammad SS; Department of Neurology, Westmead Hospital, Westmead, NSW 2145, Australia., Riney K; Neurosciences Unit, Queensland Children's Hospital, South Brisbane, QLD 4101, Australia.; Faculty of Medicine, University of Queensland, St Lucia, QLD 4072, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia., Scheffer IE; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia.; Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health and Florey Institute, Heidelberg, VIC 3084, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia., Schenscher S; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, SA 5006Australia., Silberstein J; Department of Neurology, Princess Margaret Hospital, Nedlands, WA 6009, Australia., Smith N; Department of Neurology and Clinical Neurophysiology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia., Tom M; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4029Australia., Ware TL; Department of Paediatrics, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Lockhart PJ; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia., Leventer RJ; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia.; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.

المصدر: Brain communications [Brain Commun] 2024 Feb 28; Vol. 6 (2), pp. fcae056. Date of Electronic Publication: 2024 Feb 28 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

المؤلفون: Chear S; Wicking Dementia Research and Education Centre, University of Tasmania, Hobart, TAS 7001, Australia., Perry S; Wicking Dementia Research and Education Centre, University of Tasmania, Hobart, TAS 7001, Australia., Wilson R; Central Science Laboratory, University of Tasmania, Hobart, TAS 7001, Australia., Bindoff A; Wicking Dementia Research and Education Centre, University of Tasmania, Hobart, TAS 7001, Australia., Talbot J; Wicking Dementia Research and Education Centre, University of Tasmania, Hobart, TAS 7001, Australia., Ware TL; Department of Paediatrics, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Grubman A; Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC 3800, Australia., Vickers JC; Wicking Dementia Research and Education Centre, University of Tasmania, Hobart, TAS 7001, Australia., Pébay A; Department of Anatomy and Physiology, University of Melbourne, Parkville, VIC 3010, Australia.; Department of Surgery, Royal Melbourne Hospital, University of Melbourne, Parkville, VIC 3010, Australia., Ruddle JB; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC 3002, Australia., King AE; Wicking Dementia Research and Education Centre, University of Tasmania, Hobart, TAS 7001, Australia., Hewitt AW; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS 7001, Australia., Cook AL; Wicking Dementia Research and Education Centre, University of Tasmania, Hobart, TAS 7001, Australia.

المصدر: Disease models & mechanisms [Dis Model Mech] 2022 Dec 01; Vol. 15 (12). Date of Electronic Publication: 2022 Dec 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

مواضيع طبية MeSH: Neuronal Ceroid-Lipofuscinoses*/genetics , Neuronal Ceroid-Lipofuscinoses*/physiopathology , Neurons*/physiology, Humans ; Induced Pluripotent Stem Cells/metabolism ; Lysosomes/metabolism ; Membrane Glycoproteins/genetics ; Membrane Glycoproteins/metabolism ; Molecular Chaperones/metabolism ; Proteomics ; Gene Editing

المؤلفون: Berecki G; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia. geza.berecki@florey.edu.au., Howell KB; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia., Heighway J; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia., Olivier N; Praxis Precision Medicines, Inc, Cambridge, MA, 02142, USA., Rodda J; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia., Overmars I; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia., Vlaskamp DRM; Departments of Neurology and Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Ware TL; Department of Paediatrics, Royal Hobart Hospital, Hobart, TAS, 7000, Australia., Ardern-Holmes S; Department of Neurology, Children's Hospital Westmead, Sydney, NSW, Australia., Lesca G; Service de Génétique, Hospices Civils de Lyon, 69002, Lyon, France., Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany., Veggiotti P; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy., Scheffer IE; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Wolff M; Pediatric Neurology, Vivantes Hospital Neukölln, Berlin, Germany., Petrou S; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia. steven.petrou@florey.edu.au.; Praxis Precision Medicines, Inc, Cambridge, MA, 02142, USA. steven.petrou@florey.edu.au.; Department of the Florey Institute, University of Melbourne, Parkville, VIC, 3050, Australia. steven.petrou@florey.edu.au.

المصدر: Communications biology [Commun Biol] 2022 May 30; Vol. 5 (1), pp. 515. Date of Electronic Publication: 2022 May 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Epilepsy*/genetics , Intellectual Disability*/genetics, Humans ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; Phenotype

المؤلفون: Berecki G; Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC 3052, Australia., Helbig KL; Division of Neurology and The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ware TL; Department of Paediatrics, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Grinton B; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Skraban CM; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Marsh ED; Division of Neurology and The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Petrou S; Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC 3052, Australia.; Department of the Florey Institute, University of Melbourne, Parkville, VIC 3050, Australia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2020 Aug 31; Vol. 21 (17). Date of Electronic Publication: 2020 Aug 31.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Calcium Channels, T-Type/*genetics , Developmental Disabilities/*genetics , Developmental Disabilities/*pathology , Spasms, Infantile/*genetics , Spasms, Infantile/*pathology, Female ; Humans ; Male ; Phenotype

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy