부산대학교 도서관

McNamara, Elyshia L; Taylor, Rhonda L; Clayton, Joshua S; Goullee, Hayley; Dilworth, Kimberley L; Pinós, Tomàs; Brull, Astrid; Alexander, Ian E; Lisowski, Leszek; Ravenscroft, Gianina; Laing, Nigel G; Nowak, Kristen J

Human Molecular Genetics; Jan2020, Vol. 29 Issue 1, p20-30, 11p

Parmar JM; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.; McNamara EL; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.; Lamont PJ; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.; Kumar KR; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.; Rick A; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.; Stoll M; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.; Cheong PL; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.; Ravenscroft G; From the Rare Disease Genetics and Functional Genomics Group (J.M.P., E.L.M., A.R., G.R.), Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research (J.M.P., E.L.M., A.R., G.R.), Nedlands; Royal Perth Hospital (P.J.L.); Sydney Medical School (K.R.K., P.L.C.), Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research (K.R.K.), Darlinghurst; Molecular Medicine Laboratory (K.R.K., M.S., P.L.C.), Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology (K.R.K.), Concord Repatriation General Hospital; and School of Medical Sciences (M.S.), University of Sydney, Camperdown, Australia.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Fan J; Department of Physics and Materials Science, The University of Hong Kong, Hong Kong, Hong Kong.; City University of Hong Kong Shenzhen Research Institute, Shenzhen, China.; Chan C; Department of Physics and Materials Science, The University of Hong Kong, Hong Kong, Hong Kong.; McNamara EL; Harry Perkins Institute of Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, WA, Australia.; Nowak KJ; Harry Perkins Institute of Medical Research, QEII Medical Centre, The University of Western Australia, Nedlands, WA, Australia.; Department of Health, Office of Population Health Genomics, Public and Aboriginal Health Division, Government of Western Australia, East Perth, WA, Australia.; School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, WA, Australia.; Iwamoto H; SPring-8, Japan Synchrotron Radiation Research Institute, Sayo, Japan.; Ochala J; School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King's College London, London, United Kingdom.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE

Clayton JS; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; McNamara EL; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Goullee H; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Conijn S; Department of Physiology, Amsterdam University Medical Center (Location VUmc), Amsterdam, Netherlands.; Muthsam K; Animal Care Services, University of Western Australia, Nedlands, 6009, WA, Australia.; Musk GC; Animal Care Services, University of Western Australia, Nedlands, 6009, WA, Australia.; Coote D; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Kijas J; Commonwealth Scientific and Industrial Research Organisation Agriculture and Food, Queensland Bioscience Precinct, Brisbane, 4067, QLD, Australia.; Testa AC; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Taylor RL; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Faculty of Health and Medical Sciences, School of Biomedical Sciences, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; O'Hara AJ; School of Veterinary Medicine, Murdoch University, Murdoch, 6150, WA, Australia.; Groth D; School of Pharmacy and Biomedical Sciences, CHIRI Biosciences Research Precinct, Curtin University, Bentley, 6102, WA, Australia.; Ottenheijm C; Department of Physiology, Amsterdam University Medical Center (Location VUmc), Amsterdam, Netherlands.; Ravenscroft G; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Laing NG; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia. nigel.laing@perkins.org.au.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia. nigel.laing@perkins.org.au.; Nowak KJ; Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, 6009, WA, Australia.; Centre for Medical Research, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Faculty of Health and Medical Sciences, School of Biomedical Sciences, Queen Elizabeth II Medical Centre, University of Western Australia, Nedlands, 6009, WA, Australia.; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, 6004, WA, Australia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Laitila JM; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum, Helsinki, Finland. jenni.laitila@helsinki.fi.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland. jenni.laitila@helsinki.fi.; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia. jenni.laitila@helsinki.fi.; McNamara EL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Perth, Australia.; Wingate CD; School of Human Sciences, University of Western Australia, Perth, Western Australia, Australia.; Goullee H; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Perth, Australia.; Ross JA; Centre for Human and Applied Physiological Sciences / Randall Centre for Cell and Molecular Biophysics, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.; Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Perth, Australia.; van der Pijl R; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, USA.; Griffiths LM; Department of Neuropathology, PathWest Anatomical Pathology, Nedlands, Western Australia, Australia.; Harries R; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Perth, Australia.; Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Perth, Australia.; Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Perth, Australia.; Sewry C; Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, Guilford Street, London, UK.; Wolfson Centre of Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK.; Lawlor MW; Division of Pediatric Pathology and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, USA.; Ottenheijm CAC; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, USA.; Bakker AJ; School of Human Sciences, University of Western Australia, Perth, Western Australia, Australia.; Ochala J; Centre for Human and Applied Physiological Sciences / Randall Centre for Cell and Molecular Biophysics, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.; Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Perth, Australia.; Wallgren-Pettersson C; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Pelin K; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Faculty of Biological and Environmental Sciences, Molecular and Integrative Biosciences Research Programme, University of Helsinki, Helsinki, Finland.; Nowak KJ; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; School of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Western Australia, Nedlands, Australia.; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, Western Australia, Australia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Messineo AM; Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Gineste C; Aix-Marseille University, CNRS, CRMBM, Marseille, France.; Sztal TE; School of Biological Sciences, Monash University, Melbourne, Australia.; McNamara EL; Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Vilmen C; Aix-Marseille University, CNRS, CRMBM, Marseille, France.; Ogier AC; Aix-Marseille University, CNRS, CRMBM, Marseille, France.; Hahne D; Centre for Microscopy, Characterisation and Analysis, The University of Western Australia, Perth, Western Australia, Australia.; Bendahan D; Aix-Marseille University, CNRS, CRMBM, Marseille, France.; Laing NG; Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Australia.; Gondin J; Aix-Marseille University, CNRS, CRMBM, Marseille, France.; Institut NeuroMyoGène, UMR CNRS 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Villeurbanne, France.; Nowak KJ; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia. kristen.nowak@health.wa.gov.au.; School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Nedlands, Australia. kristen.nowak@health.wa.gov.au.; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, Western Australia, Australia. kristen.nowak@health.wa.gov.au.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE