부산대학교 도서관

Burns, Joshua ; Ouvrier, Robert A ; Yiu, Eppie M ; Joseph, Pathma D ; Kornberg, Andrew J ; Fahey, Michael C ; Ryan, Monique M

In Lancet Neurology 2009 8(6):537-544

Tran J; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Parkville, Australia.; Department of Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Parkville, Australia.; Adams AM; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Department of Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Parkville, Australia.; Respiratory Research Group, Murdoch Children's Research Institute, Parkville, Australia.; Said JL; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Parkville, Australia.; Kornberg AJ; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Parkville, Australia.; Vandeleur M; Department of Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Parkville, Australia.; Respiratory Research Group, Murdoch Children's Research Institute, Parkville, Australia.; Yiu EM; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Australia.; Department of Neurology, Royal Children's Hospital, Melbourne, Parkville, Australia.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Kapsa, Robert ; Kornberg, Andrew J ; Byrne, Edward

In Lancet Neurology 2003 2(5):299-310

Lopate, Glenn ; Kornberg, Andrew J ; Yue, Jin ; Choksi, Rati ; Pestronk, Alan

In Journal of the Neurological Sciences 2001 188(1):67-72

O'Neill T; Neurology Department, Royal Children's Hospital, Melbourne, Australia.; Kornberg AJ; Neurology Department, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia.; Yiu EM; Neurology Department, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Victoria, Australia. Electronic address: Eppie.Yiu@rch.org.au.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE; In Process

Billich N; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Australia.; Bray P; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Department of Neurology, The Children's Hospital at Westmead, Sydney, Australia.; Truby H; School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Australia.; School of Primary and Allied Health Care Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.; Evans M; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Australia.; Carroll K; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Physiotherapy, School of Primary and Allied Health Care, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.; de Valle K; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Adams J; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Kennedy RA; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Villano D; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Kornberg AJ; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Yiu EM; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, Melbourne University, Melbourne, Australia.; Ryan MM; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, Melbourne University, Melbourne, Australia.; Davidson ZE; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia.; Department of Neurology, The Royal Children's Hospital, Melbourne, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Australia.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Wan, Jijun; Yourshaw, Michael; Mamsa, Hafsa; Rudnik-Schöneborn, Sabine; Menezes, Manoj P; Hong, Ji Eun; Leong, Derek W; Senderek, Jan; Salman, Michael S; Chitayat, David; Seeman, Pavel; von Moers, Arpad; Graul-Neumann, Luitgard; Kornberg, Andrew J; Castro-Gago, Manuel; Sobrido, María-Jesús; Sanefuji, Masafumi; Shieh, Perry B; Salamon, Noriko; Kim, Ronald C

Nature Genetics. Jun2012, Vol. 44 Issue 6, p704-708. 5p. 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph.

Davidson ZE; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department Nutrition, Dietetics and Food, Monash University, Melbourne, Australia.; Vidmar S; Clinical Epidemiology and Biostatistics Unit, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Griffiths A; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Department of Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Respiratory Research, Melbourne, Victoria, Australia.; Austin Health, Institute for Breathing and Sleep, Melbourne, Victoria, Australia.; Howard ME; Austin Health, Institute for Breathing and Sleep, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Victoria, Australia.; Berlowitz DJ; Austin Health, Institute for Breathing and Sleep, Melbourne, Victoria, Australia.; Department of Physiotherapy, University of Melbourne, Victoria, Australia.; Jones EF; Austin Health, Cardiology Department, Melbourne, Victoria, Australia.; Scully T; Austin Health, Cardiology Department, Melbourne, Victoria, Australia.; Treanor D; Austin Health, Institute for Breathing and Sleep, Melbourne, Victoria, Australia.; Singh B; Austin Health, Institute for Breathing and Sleep, Melbourne, Victoria, Australia.; Prior D; Department of Medicine, University of Melbourne, Victoria, Australia.; Department of Cardiology, Fitzroy Department, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.; Frost MG; Cardiology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Forbes R; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Billich N; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department Nutrition, Dietetics and Food, Monash University, Melbourne, Australia.; Adams J; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Carroll K; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Al Lawati T; Cardiology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Bourne H; Cardiology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Kornberg AJ; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Ryan MM; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department Nutrition, Dietetics and Food, Monash University, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Woodcock IR; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Yiu EM; Murdoch Children's Research Institute, Neuroscience Research, Melbourne, Victoria, Australia.; Neurology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Cheung MMH; Department of Paediatrics, University of Melbourne, Victoria, Australia.; Cardiology Department, Royal Children's Hospital, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Heart Research, Melbourne, Victoria, Australia.

Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101774968 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-6065 (Electronic) Linking ISSN: 26666065 NLM ISO Abbreviation: Lancet Reg Health West Pac Subsets: PubMed not MEDLINE

Leung R; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Mignone C; Department of Medical Imaging, Royal Children's Hospital, Melbourne, Victoria, Australia.; Kornberg AJ; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Neuroscience Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Freeman JL; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Neuroscience Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Yiu EM; Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Neuroscience Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

Kiss S; Department of Metabolic Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia.; Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Murdoch, Victoria, Australia.; Thorburn DR; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Murdoch, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Freeman JL; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Kornberg AJ; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Mandelstam S; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Department of Radiology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Compton AG; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Murdoch, Victoria, Australia.; Cummings B; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Yaplito-Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; White SM; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Balaji L; Department of Neurology, Sydney Children's Hospital Randwick, NSW, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Forbes R; Australian Neuromuscular Disease Registry, Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Cairns A; Queensland Children's Hospital, Brisbane, QLD, Australia.; Sampaio H; Department of Neurology, Sydney Children's Hospital Randwick, NSW, Australia.; Kornberg AJ; Department of Neurology, The Royal Children's Hospital Melbourne, Parkville, VIC, Australia.; Sanders L; The University of Melbourne, VIC, Australia.; St Vincent's Hospital, Melbourne, VIC, Australia.; Lamont P; Royal Perth Hospital, Perth, WA, Australia.; Liang C; Royal North Shore Hospital, St Leonards, NSW, Australia.; Jones KJ; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia.; Children's Hospital at Westmead, Westmead, NSW, Australia.; Nowak K; University of Western Australia, Perth, WA, Australia.; O'Gorman C; Princess Alexandra Hospital, Brisbane, QLD, Australia.; University of Queensland, Brisbane, QLD, Australia.; Woodcock I; Department of Neurology, The Royal Children's Hospital Melbourne, Parkville, VIC, Australia.; Briggs N; Mark Wainwright Analytical Centre, University of New South Wales, Sydney, NSW, Australia.; Yiu EM; Australian Neuromuscular Disease Registry, Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Neurology, The Royal Children's Hospital Melbourne, Parkville, VIC, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia.; Farrar MA; Department of Neurology, Sydney Children's Hospital Randwick, NSW, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Kariyawasam D; Department of Neurology, Sydney Children's Hospital Randwick, NSW, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, NSW, Australia.

Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101774968 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-6065 (Electronic) Linking ISSN: 26666065 NLM ISO Abbreviation: Lancet Reg Health West Pac Subsets: PubMed not MEDLINE

Rodriguez-Casero, M.Victoria ; Shield, Lloyd K ; Coleman, Lee T ; Kornberg, Andrew J

In Neuromuscular Disorders 2003 13(2):158-161

Carroll K; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Physiotherapy, Faculty of Medicine, Nursing and Health Sciences, Monash University, Frankston, Victoria, Australia.; Adams J; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; de Valle K; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Physiotherapy, University of Melbourne, Victoria, Australia.; Forbes R; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Kennedy RA; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Kornberg AJ; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Victoria, Australia.; Vandeleur M; Department of Respiratory and Sleep Medicine, The Royal Children's Hospital, Parkville, Victoria, Australia.; Infection and Immunity- Respiratory Diseases, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Villano D; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Woodcock IR; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Victoria, Australia.; Yiu EM; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Victoria, Australia.; Ryan MM; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Victoria, Australia.; Davidson Z; Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Nutrition, Dietetics and Food, School of Clinical Sciences at Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University, Victoria, Australia.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Marchant RG; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Bryen SJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Bahlo M; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Cairns A; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.; Chao KR; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Corbett A; Neurology Department, Repatriation General Hospital Concord, Concord, New South Wales, Australia.; Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, WA, Australia.; Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Neuromuscular Division, Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Ghaoui R; Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Department of Genetics & Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Jones KJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Clinical Genetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Kornberg AJ; Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Lek M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Liang C; Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Neurogenetics, Northern Clinical School, Kolling Institute, The University of Sydney, Sydney, New South Wales, Australia.; MacArthur DG; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Centre for Population Genomics, Garvan Institute of Medical Research/University of New South Wales, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Oates EC; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick, New South Wales, Australia.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; O'Grady GL; Starship Children's Health, Auckland District Health Board, Auckland, New Zealand.; Osei-Owusu IA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Rafehi H; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Reddel SW; Neurology Department, Repatriation General Hospital Concord, Concord, New South Wales, Australia.; Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia.; Roxburgh RH; Department of Neurology, Auckland District Health Board, Auckland, New Zealand.; Centre of Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand.; Ryan MM; Department of Neurology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Neurosciences Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sandaradura SA; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Clinical Genetics, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Scott LW; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.; Population Health and Immunity, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Valkanas E; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.; Weisburd B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Young H; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Department of Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Paediatrics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Evesson FJ; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.; Waddell LB; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Cooper ST; Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Clarke L; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Arnett S; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Bukhari W; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Khalilidehkordi E; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Jimenez Sanchez S; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; O'Gorman C; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Sun J; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Prain KM; Department of Immunology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; Woodhall M; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.; Silvestrini R; Department of Immunopathology, Westmead Hospital, Westmead, NSW, Australia.; Bundell CS; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia.; Abernethy DA; Department of Neurology, Wellington Hospital, Newtown, New Zealand.; Bhuta S; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Blum S; Department of Neurology, Princess Alexandra Hospital, Woolloongabba, QLD, Australia.; Boggild M; Department of Neurology, Townsville Hospital, Douglas, QLD, Australia.; Boundy K; Department of Neurology, College of Medicine and Public Health, Flinders University, Bedford Park, SA, Australia.; Brew BJ; Centre for Applied Medical Research, St. Vincent's Hospital, University of New South Wales, Darlinghurst, NSW, Australia.; Brownlee W; Department of Neurology, Auckland City Hospital, Grafton, New Zealand.; Butzkueven H; Melbourne Brain Centre, Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia.; Carroll WM; Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth II Medical Centre, Perron Institute for Neurological and Translational Science, University of Western Australia, Nedlands, WA, Australia.; Chen C; Department of Ophthalmology, Flinders Medical Centre, Flinders University, Bedford Park, SA, Australia.; Coulthard A; School of Medicine, Royal Brisbane and Women's Hospital, University of Queensland, Herston, QLD, Australia.; Dale RC; Brain and Mind Centre, University of Sydney, Camperdown, NSW, Australia.; Das C; Department of Neurology, Canberra Hospital, Garran, ACT, Australia.; Fabis-Pedrini MJ; Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth II Medical Centre, Perron Institute for Neurological and Translational Science, University of Western Australia, Nedlands, WA, Australia.; Gillis D; School of Medicine, Royal Brisbane and Women's Hospital, University of Queensland, Herston, QLD, Australia.; Hawke S; Sydney Medical School, Royal Prince Alfred Hospital, University of Sydney, Camperdown, NSW, Australia.; Heard R; Brain and Mind Centre, University of Sydney, Camperdown, NSW, Australia.; Henderson APD; Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Heshmat S; Menzies Health Institute Queensland, Gold Coast, Griffith University, Southport, QLD, Australia.; Hodgkinson S; South Western Sydney Medical School, Liverpool Hospital, University of New South Wales, Liverpool, NSW, Australia.; Kilpatrick TJ; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, Australia.; King J; Department of Neurology, Royal Melbourne Hospital, Parkville, VIC, Australia.; Kneebone C; Department of Neurology, Royal Adelaide Hospital, Adelaide, SA, Australia.; Kornberg AJ; School of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia.; Lechner-Scott J; Hunter Medical Research Institute, University of Newcastle, New Lambton Heights, NSW, Australia.; Lin MW; Sydney Medical School, Royal Prince Alfred Hospital, University of Sydney, Camperdown, NSW, Australia.; Lynch C; School of Medicine, University of Auckland, Grafton, New Zealand.; Macdonell RAL; Department of Neurology, Austin Health, Heidelberg, VIC, Australia.; Mason DF; Department of Neurology, Christchurch Hospital, Christchurch, New Zealand.; McCombe PA; Centre for Clinical Research, Royal Brisbane and Women's Hospital, University of Queensland, Herston, QLD, Australia.; Pereira J; School of Medicine, University of Auckland, Grafton, New Zealand.; Pollard JD; Sydney Medical School, Royal Prince Alfred Hospital, University of Sydney, Camperdown, NSW, Australia.; Ramanathan S; Neuroimmunology Group, Kids Neurosciences Centre, Children's Hospital at Westmead, University of Sydney, Westmead, NSW, Australia.; Department of Neurology, Concord Repatriation General Hospital, Concord, NSW, Australia.; Reddel SW; Brain and Mind Centre, University of Sydney, Camperdown, NSW, Australia.; Shaw CP; School of Medicine, Deakin University, Waurn Ponds, VIC, Australia.; Spies JM; Sydney Medical School, Royal Prince Alfred Hospital, University of Sydney, Camperdown, NSW, Australia.; Stankovich J; Menzies Research Institute, University of Tasmania, Hobart, TAS, Australia.; Sutton I; Department of Neurology, St. Vincent's Hospital, Darlinghurst, NSW, Australia.; Vucic S; Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Walsh M; Department of Neurology, Princess Alexandra Hospital, Woolloongabba, QLD, Australia.; Wong RC; School of Medicine, Royal Brisbane and Women's Hospital, University of Queensland, Herston, QLD, Australia.; Yiu EM; School of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia.; Barnett MH; Brain and Mind Centre, University of Sydney, Camperdown, NSW, Australia.; Kermode AGK; Centre for Neuromuscular and Neurological Disorders, Queen Elizabeth II Medical Centre, Perron Institute for Neurological and Translational Science, University of Western Australia, Nedlands, WA, Australia.; Marriott MP; Melbourne Brain Centre, Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia.; Parratt JDE; 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Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Lopate, Glenn; Pestronk, Alan; Kornberg, Andrew J; Yue, Jin; Choksi, Rati

Journal of the Neurological Sciences. 151(2):189-193

Yiu, Eppie M; Kornberg, Andrew J

Journal of Paediatrics and Child Health. Aug 01, 2015 51(8):759-764

Chan, Eunice K; Kornberg, Andrew J; Ryan, Monique M

Archives of Disease in Childhood. Aug 01, 2015 100(8):793-797

Jordan-Ely, Julie; Dobson, Kyla M; Appaduray, Shaun; Hynson, Jenny; Kornberg, Andrew J; Hutson, John M; Southwell, Bridget R

Journal of Paediatrics and Child Health. Mar 01, 2015 51(3):351-352

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Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE