부산대학교 도서관

Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Scala M; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Nagaraj V; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA.; Ochenkowska K; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), and Department of Neuroscience, Université de Montréal, Montreal H2X 0A9, Quebec, Canada.; Komdeur FL; Section Clinical Genetics, Department of Human Genetics and Amsterdam Reproduction and Development, Amsterdam University Medical Centers, 1105 AZ, Amsterdam, The Netherlands.; Liang RA; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, 9019 Tromsø, Norway.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Sultan T; Department of Pediatric Neurology, Children Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Barøy T; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Van Ghelue M; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway, 9019 Tromsø, Norway.; Vona B; Institute of Human Genetics and Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37073 Göttingen, Germany.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Punjab 60000, Pakistan.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Duru KC; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA.; Tryon RC; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO 63110, USA.; Brauteset LV; Division of Habilitation for Children, Innlandet Hospital Sanderud, Hamar 2312, Norway.; Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh EH4 2XU, UK.; Hamilton M; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; van Haelst MM; Section Clinical Genetics, Department of Human Genetics and Amsterdam Reproduction and Development, Amsterdam University Medical Centers, 1105 AZ, Amsterdam, The Netherlands.; van Haaften G; Department of Genetics, University Medical Center, Utrecht, 3584 CX, The Netherlands.; Zara F; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Samarut É; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), and Department of Neuroscience, Université de Montréal, Montreal H2X 0A9, Quebec, Canada.; Nichols CG; Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO 63110, USA.; Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, 9019 Tromsø, Norway.; Institute of Clinical Medicine, UiT The Arctic University of Norway, 9019, Tromsø, Norway.; McClenaghan C; Center for Advanced Biotechnology and Medicine, and Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers the State University of New Jersey, Piscatway, NJ 08854, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Müller, K.; Nebuchenykh, M.; Nilssen, Ø.; Van Ghelue, M.; Løseth, S.; Jonsrud, C.; Hoem, G.; Arntzen, K.

Neuromuscular Disorders. 31:S123-S124

Marie F. Smeland; Conor McClenaghan; Helen I. Roessler; Sanne Savelberg; Geir Åsmund Myge Hansen; Helene Hjellnes; Kjell Arne Arntzen; Kai Ivar Müller; Andreas Rosenberger Dybesland; Theresa Harter; Monica Sala-Rabanal; Chris H. Emfinger; Yan Huang; Soma S. Singareddy; Jamie Gunn; David F. Wozniak; Attila Kovacs; Maarten Massink; Federico Tessadori; Sarah M. Kamel; Jeroen Bakkers; Maria S. Remedi; Marijke Van Ghelue; Colin G. Nichols; Gijs van Haaften

Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)

Arntzen, K.; Müller, K.; Løseth, S.; Mellgren, S.; Bågenholm, A.; Halvorsen, H.; Buvang, E.; Hoem, G.; Jonsrud, C.; Van Ghelue, M.

Neuromuscular Disorders. 31:S66-S66

Vissing, J; Barresi, R; Witting, N; Van Ghelue, M; Gammelgaard, L; Bindoff, LA; Straub, V; Lochmuller, H; Hudson, J; Wahl, CM; Arnardottir, S; Dahlbom, K; Jonsrud, C; Duno, M

Brain : a journal of neurology. 139(Pt 8):2154-2163

Van Ghelue, M.; Fagerheim, T.; Hansen, G.; Nygård, B.; Arntzen, K.; Ørstavik, K.; Rasmussen, M.; Nilssen, Ø.; Jonsrud, C.

Neuromuscular Disorders. 29:S181-S181

Bassi, N.; Jarhelle, E.; Van Ghelue, M.; Hovland, H.N.; Mchaina, E.K.; Høberg-Vetti, H.; Ognedal, E.; Haukanes, B.I.; Knappskog, P.M.; Aukrust, I.; Rasheed, K.; Pedersen, N.; Bakkan, S.M.E.; Iversen, N.

In: BMC Cancer. (BMC Cancer, December 2023, 23(1))

Jensen SM; National Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway HF, Tromsø, PO Box 100, N-9038, Tromsø, Norway; Department of Clinical Medicine, University of Tromsø - The Artic University of Norway, PO Box 6050 Langnes, N-9037, Tromsø, Norway. Electronic address: synnove.magnhild.jensen@unn.no.; Müller KI; National Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway HF, Tromsø, PO Box 100, N-9038, Tromsø, Norway; Department of Clinical Medicine, University of Tromsø - The Artic University of Norway, PO Box 6050 Langnes, N-9037, Tromsø, Norway; Department of Neurology, Hospital of Southern Norway, PO box 416 Lundsiden, 4604, Kristiansand S, Norway.; Mellgren SI; National Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway HF, Tromsø, PO Box 100, N-9038, Tromsø, Norway; Department of Clinical Medicine, University of Tromsø - The Artic University of Norway, PO Box 6050 Langnes, N-9037, Tromsø, Norway.; Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, N-5021, Bergen, Norway; Department of Neurology, Haukeland University Hospital, PO Box 1400, N-5021, Bergen, Norway; National Unit of Newborn Screening and Advanced Laboratory Diagnostics, Oslo University Hospital, PO Box 4950 Nydalen, N-0424, Oslo, Norway.; Rasmussen M; Department of Clinical Neurosciences for Children, Oslo University Hospital, PO Box 4950 Nydalen, N-0424, Oslo, Norway; Unit for Congenital and Hereditary Neuromuscular Conditions (EMAN), Department of Neurology, Oslo University Hospital, PO Box 4950 Nydalen, N-0424, Oslo, Norway.; Ørstavik K; Unit for Congenital and Hereditary Neuromuscular Conditions (EMAN), Department of Neurology, Oslo University Hospital, PO Box 4950 Nydalen, N-0424, Oslo, Norway.; Jonsrud C; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway HF, PO Box 55, N-9038, Tromsø, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, PO Box 2900 Kjørbekk, N-3710, Skien, Norway.; Nilssen Ø; Department of Clinical Medicine, University of Tromsø - The Artic University of Norway, PO Box 6050 Langnes, N-9037, Tromsø, Norway; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway HF, PO Box 55, N-9038, Tromsø, Norway.; Van Ghelue M; Department of Clinical Medicine, University of Tromsø - The Artic University of Norway, PO Box 6050 Langnes, N-9037, Tromsø, Norway; Department of Medical Genetics, Division of Child and Adolescent Health, University Hospital of North Norway HF, PO Box 55, N-9038, Tromsø, Norway.; Arntzen KA; National Neuromuscular Centre Norway and Department of Neurology, University Hospital of North Norway HF, Tromsø, PO Box 100, N-9038, Tromsø, Norway; Department of Clinical Medicine, University of Tromsø - The Artic University of Norway, PO Box 6050 Langnes, N-9037, Tromsø, Norway.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Sun, C; Van Ghelue, M; Tranebjaerg, L; Thyssen, F; Nilssen, O; Torbergsen, T

Sun , C , Van Ghelue , M , Tranebjaerg , L , Thyssen , F , Nilssen , O , Torbergsen , T , Sun , C , Van Ghelue , M , Tranebjaerg , L , Thyssen , F , Nilssen , O & Torbergsen , T 2010 , ' Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene ' , Dysmorphology and Clinical Genetics .

Van Ghelue, M.; Wahl, C.; Arntzen, K.; Loseth, S.; Bindoff, L.; Sveberg, L.; Rosby, O.; Popperud, T.; Rasmussen, M.; Halvorsen, H.; Lindal, S.; Jonsrud, C.; Orstavik, K.

Neuromuscular Disorders. 25:S232-S233