부산대학교 도서관

Terrill JR; School of Molecular Sciences, The University of Western Australia, Perth 6009, Australia.; Huchet C; TaRGeT Lab, Translational Research for Gene Therapy, INSERM, UMR 1089, Nantes Université, CHU Nantes, 440200 Nantes, France.; Le Guiner C; TaRGeT Lab, Translational Research for Gene Therapy, INSERM, UMR 1089, Nantes Université, CHU Nantes, 440200 Nantes, France.; Lafoux A; Therassay Platform, CAPACITES, Nantes Université, 44007 Nantes, France.; Caudal D; Therassay Platform, CAPACITES, Nantes Université, 44007 Nantes, France.; Tulangekar A; School of Biological Sciences, Monash University, Melbourne 3800, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne 3800, Australia.; Sztal TE; School of Biological Sciences, Monash University, Melbourne 3800, Australia.; Grounds MD; School of Human Sciences, the University of Western Australia, Perth 6009, Australia.; Arthur PG; School of Molecular Sciences, The University of Western Australia, Perth 6009, Australia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

Xie, J; Jusuf, PR; Bui, B; Dudczig, S; Sztal, TE; Goodbourn, PT

Invest Ophthalmol Vis Sci

de Winter JM; Molenaar JP; Yuen M; van der Pijl R; Shen S; Conijn S; van de Locht M; Willigenburg M; Bogaards SJ; van Kleef ES; Lassche S; Persson M; Rassier DE; Sztal TE; Ruparelia AA; Oorschot V; Ramm G; Hall TE; Xiong Z; Johnson CN; Li F; Kiss B; Lozano-Vidal N; Boon RA; Marabita M; Nogara L; Blaauw B; Rodenburg RJ; Küsters B; Doorduin J; Beggs AH; Granzier H; Campbell K; Ma W; Irving T; Malfatti E; Romero NB; Bryson-Richardson RJ; van Engelen BG; Voermans NC; Ottenheijm CA

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: PubMed not MEDLINE

Tulangekar A; School of Biological Sciences, Monash University, Melbourne 3800, Australia.; Sztal TE; School of Biological Sciences, Monash University, Melbourne 3800, Australia.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

Xie, J; Goodbourn, PT; Bui, BV; Sztal, TE; Jusuf, PR

Investigative Opthalmology & Visual Science. 60:4681

de Winter JM; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Molenaar JP; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Neurology, Rijnstate Hospital, Arnhem, Netherlands.; Yuen M; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Australia.; van der Pijl R; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.; Shen S; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.; Conijn S; Department of Physiology, Amsterdam University Medical Center, Netherlands.; van de Locht M; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Willigenburg M; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Bogaards SJ; Department of Physiology, Amsterdam University Medical Center, Netherlands.; van Kleef ES; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Lassche S; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Persson M; Department of Kinesiology and Physical Education, McGill University, Montreal, Canada.; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.; Rassier DE; Department of Kinesiology and Physical Education, McGill University, Montreal, Canada.; Sztal TE; School of Biological Sciences, Monash University, Melbourne, Australia.; Ruparelia AA; School of Biological Sciences, Monash University, Melbourne, Australia.; Oorschot V; Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia.; Ramm G; Monash Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, Australia.; Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia.; Hall TE; Institute for Molecular Bioscience, University of Queensland, Queensland, Australia.; Xiong Z; Institute for Molecular Bioscience, University of Queensland, Queensland, Australia.; Johnson CN; Division of Clinical Pharmacology, Center for Arrhythmia Research and Therapeutics and Center for Structural Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Li F; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.; Kiss B; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.; Lozano-Vidal N; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Boon RA; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Marabita M; Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy.; Nogara L; Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy.; Blaauw B; Venetian Institute of Molecular Medicine, Department of Biomedical Sciences, University of Padova, Italy.; Rodenburg RJ; Department of Pediatrics, Radboud University Medical Centre, Translational Metabolic Laboratory, Nijmegen, Netherlands.; Küsters B; Department of Pathology, Radboud University Medical Centre, Nijmegen, Netherlands.; Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Granzier H; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.; Campbell K; Department of Physiology and Division of Cardiovascular Medicine, University of Kentucky, Lexington, Kentucky, USA.; Ma W; BioCAT, Illinois Institute of Technology, Chicago, Illinois, USA.; Irving T; BioCAT, Illinois Institute of Technology, Chicago, Illinois, USA.; Malfatti E; Service Neurologie Médicale, Centre de Référence Maladies Neuromusculaire Paris-Nord CHU Raymond-Poincaré, U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie Appliquées, UFR des Sciences de la Santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, Garches, France.; Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière Paris, France.; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.; Bryson-Richardson RJ; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.; van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Ottenheijm CA; Department of Physiology, Amsterdam University Medical Center, Netherlands.; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Hall TE; 1Australian Regenerative Medicine Institute, Monash University, Level 1, 15 Innovation Walk, Victoria, 3800 Australia.; 2Institute for Molecular Bioscience, University of Queensland, 306 Carmody Road, St Lucia, 4067 Australia.; Wood AJ; 1Australian Regenerative Medicine Institute, Monash University, Level 1, 15 Innovation Walk, Victoria, 3800 Australia.; Ehrlich O; 1Australian Regenerative Medicine Institute, Monash University, Level 1, 15 Innovation Walk, Victoria, 3800 Australia.; Li M; 1Australian Regenerative Medicine Institute, Monash University, Level 1, 15 Innovation Walk, Victoria, 3800 Australia.; Sonntag CS; 1Australian Regenerative Medicine Institute, Monash University, Level 1, 15 Innovation Walk, Victoria, 3800 Australia.; Cole NJ; 3Victor Chang Cardiac Research Institute, 405 Liverpool Street, Darlinghurst, Sydney, New South Wales 2010 Australia.; 4Anatomy & Histology, School of Medical Science, Anderson Stuart Building, Eastern Avenue, The University of Sydney, Sydney, New South Wales 2006 Australia.; Huttner IG; 3Victor Chang Cardiac Research Institute, 405 Liverpool Street, Darlinghurst, Sydney, New South Wales 2010 Australia.; Sztal TE; 1Australian Regenerative Medicine Institute, Monash University, Level 1, 15 Innovation Walk, Victoria, 3800 Australia.; 5Department of Biological Sciences, Monash University, Victoria, 3800 Australia.; Currie PD; 1Australian Regenerative Medicine Institute, Monash University, Level 1, 15 Innovation Walk, Victoria, 3800 Australia.; 6EMBL Australia, Victorian Node, Monash University, Clayton, VIC 3800 Australia.

Publisher: Nature Publishing Group, published in partnership with Monash University and Australian Regenerative Medicine Institute Country of Publication: United States NLM ID: 101699846 Publication Model: eCollection Cited Medium: Internet ISSN: 2057-3995 (Electronic) Linking ISSN: 20573995 NLM ISO Abbreviation: NPJ Regen Med Subsets: PubMed not MEDLINE

Serrano RJ; School of Biological Sciences, Monash University, Melbourne 3800, Australia.; Lee C; School of Biological Sciences, Monash University, Melbourne 3800, Australia.; Douek AM; Australian Regenerative Medicine Institute, Monash University, Melbourne 3800, Australia.; Kaslin J; Australian Regenerative Medicine Institute, Monash University, Melbourne 3800, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne 3800, Australia.; Sztal TE; School of Biological Sciences, Monash University, Melbourne 3800, Australia.

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

Sztal TE; School of Biological Sciences, Monash University, Melbourne, Victoria Australia.; McKaige EA; School of Biological Sciences, Monash University, Melbourne, Victoria Australia.; Williams C; School of Biological Sciences, Monash University, Melbourne, Victoria Australia.; Ruparelia AA; School of Biological Sciences, Monash University, Melbourne, Victoria Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Victoria Australia.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Sztal TE; School of Biological Sciences, Monash University, Melbourne, VIC, Australia.; Zhao M; Williams C; Oorschot V; Parslow AC; Giousoh A; Yuen M; Hall TE; Costin A; Ramm G; Bird PI; Busch-Nentwich EM; Stemple DL; Currie PD; Cooper ST; Laing NG; Nowak KJ; Bryson-Richardson RJ

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Sztal TE; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3800, Australia.; Sonntag C; Hall TE; Currie PD

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Sztal TE; School of Biological Sciences, Monash University, Melbourne 3800, Australia tamar.sztal@monash.edu didier.stainier@mpi-bn.mpg.de.; Stainier DYR; Department of Developmental Genetics, Max Planck Institute for Heart and Lung Research, Ludwigstrasse 43, Bad Nauheim 61231, Germany tamar.sztal@monash.edu didier.stainier@mpi-bn.mpg.de.

Publisher: Company Of Biologists Limited Country of Publication: England NLM ID: 8701744 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-9129 (Electronic) Linking ISSN: 09501991 NLM ISO Abbreviation: Development 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

Sztal TE; School of Biological Sciences, Monash University, Melbourne, Australia.; McKaige EA; School of Biological Sciences, Monash University, Melbourne, Australia.; Williams C; School of Biological Sciences, Monash University, Melbourne, Australia.; Oorschot V; Monash Ramaciotti Centre for Cryo Electron Microscopy, Monash University, Melbourne, VIC, 3800, Australia.; Ramm G; Monash Ramaciotti Centre for Cryo Electron Microscopy, Monash University, Melbourne, VIC, 3800, Australia.; Department of Biochemistry and Molecular Biology, Monash University, Melbourne, Australia.; Biomedicine Discovery Institute, Monash University, Melbourne, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, Australia. robert.bryson-richardson@monash.edu.

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

Sztal TE; School of Biological Sciences, Monash University, Melbourne, VIC, Australia. Tamar.Sztal@monash.edu.; Currie PD; Australian Regenerative Medicine Institute, Monash University, Melbourne, VIC, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, VIC, Australia.

Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

O'Grady GL; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia; Paediatric Neurology Service, Starship Children's Health, Auckland 1023, New Zealand.; Best HA; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia.; Sztal TE; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia.; Schartner V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France.; Sanjuan-Vazquez M; Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France.; Donkervoort S; National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA.; Abath Neto O; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France.; Sutton RB; Department of Cell Physiology and Molecular Biophysics, and Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.; Ilkovski B; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Romero NB; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France.; Stojkovic T; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France.; Dastgir J; National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA.; Waddell LB; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Boland A; Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France.; Hu Y; National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA.; Williams C; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia.; Ruparelia AA; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia.; Maisonobe T; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France.; Peduto AJ; Department of Radiology, Westmead Hospital, Western Clinical School, University of Sydney, Sydney, NSW 1024, Australia.; Reddel SW; Department of Neurology, Concord Clinical School, University of Sydney, Sydney, NSW 2139, Australia.; Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.; Tukiainen T; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.; Cummings BB; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.; Joshi H; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Nectoux J; Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris 75014, France; INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014, France.; Brammah S; Electron Microscope Unit, Concord Repatriation General Hospital, Concord, NSW 2139, Australia.; Deleuze JF; Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France.; Ing VO; The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia.; Ramm G; The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia; Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia.; Ardicli D; Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.; Nowak KJ; Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia.; Talim B; Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.; Topaloglu H; Department of Pediatric Neurology, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.; Laing NG; Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia.; North KN; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.; MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.; Friant S; Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France.; Clarke NF; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia.; Bönnemann CG; National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA.; Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France; Université de Strasbourg, 67081 Illkirch, France.; Cooper ST; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia. Electronic address: sandra.cooper@sydney.edu.au.

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

Sztal TE; School of Biological Sciences, Monash University.; Ruparelia AA; School of Biological Sciences, Monash University.; Williams C; School of Biological Sciences, Monash University.; Bryson-Richardson RJ; School of Biological Sciences, Monash University; robert.bryson-richardson@monash.edu.

Publisher: MYJoVE Corporation Country of Publication: United States NLM ID: 101313252 Publication Model: Electronic Cited Medium: Internet ISSN: 1940-087X (Electronic) Linking ISSN: 1940087X NLM ISO Abbreviation: J Vis Exp Subsets: MEDLINE

Goldshmit Y; Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia. yona.goldshmit@med.monash.edu.au; Sztal TE; Jusuf PR; Hall TE; Nguyen-Chi M; Currie PD

Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

Oorschot VM; Monash Micro Imaging, Monash University, Melbourne, Victoria, Australia.; Sztal TE; School of Biological Sciences, Faculty of Sciences, Monash University, Melbourne, Victoria, Australia.; Bryson-Richardson RJ; School of Biological Sciences, Faculty of Sciences, Monash University, Melbourne, Victoria, Australia.; Ramm G; Monash Micro Imaging, Monash University, Melbourne, Victoria, Australia; Department of Biochemistry and Molecular Biology, Monash University, Melbourne, Victoria, Australia.

Publisher: Academic Press Country of Publication: United States NLM ID: 0373334 Publication Model: Print Cited Medium: Internet ISSN: 0091-679X (Print) Linking ISSN: 0091679X NLM ISO Abbreviation: Methods Cell Biol Subsets: MEDLINE

Nguyen-Chi ME; Australian Regenerative Medicine Institute, Monash University, Clayton, Australia.; Bryson-Richardson R; Sonntag C; Hall TE; Gibson A; Sztal T; Chua W; Schilling TF; Currie PD

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE