부산대학교 도서관

Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Blake J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Polke JM; UCLH Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, UK.; do Nascimento OJM; Neurology Department of Fluminense Federal University (UFF), Rio de Janeiro, Brazil.; Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Marques Júnior W; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Laurá M; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pipis M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Blake J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, NR4 7UY, UK.; Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Eggleton K; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Nanji T; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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

Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.; Vishnu VY; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.; Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Perrone B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Facchini S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Vegezzi E; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Ravaglia S; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Wilson L; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.; Mishra R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.; Reyaz A; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.; Ahmad T; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.; Bhatia R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.; Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Srivastava MP; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.; Cortese A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; IRCCS Mondino Foundation, 27100 Pavia, Italy.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.; Hanna MG; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bugiardini E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

Pipis M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Won S; Waisman Center and Department of Comparative Biosciences, University of Wisconsin, Madison, WI 53706, USA.; Poh R; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Efthymiou S; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Polke JM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Skorupinska M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Blake J; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich NR4 7UY, UK.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Moran JJ; Waisman Center and Department of Comparative Biosciences, University of Wisconsin, Madison, WI 53706, USA.; Munot P; Dubowitz Neuromuscular Centre, NIHR Biomedical Research Centre at UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, UK.; Muntoni F; Dubowitz Neuromuscular Centre, NIHR Biomedical Research Centre at UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, UK.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Svaren J; Waisman Center and Department of Comparative Biosciences, University of Wisconsin, Madison, WI 53706, USA.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

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

Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Lloyd TE; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0PY, UK.; Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14618, USA.; Li J; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA.; Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA.; Yum SW; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Day J; Department of Neurology, Stanford University, Stanford, CA 94304, USA.; Burns J; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Sydney, 2145Australia.; Finkel RS; Department of Neurology, Nemours Children's Hospital, Orlando, FL 32827, USA.; Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Ramchandren S; Department of Neurology, Wayne State University, Detroit, MI 48201, USA.; The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA.; Weiss MD; Department of Neurology, University of Washington, Seattle, WA, 98195USA.; Acsadi G; Connecticut Children's Medical Center, Hartford, CT 06106, USA.; Fridman V; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA.; Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London, WC1N 1EH, UK.; Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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

Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Woodward CE; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Scotchman E; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Chitty LS; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Polke JM; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Chandler N; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Labrum R; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.

Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE

Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Pipis M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Poh R; Neurogenetics Laboratory, UCL Queen Square Institute of Neurology, London, UK.; Polke JM; Neurogenetics Laboratory, UCL Queen Square Institute of Neurology, London, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.reilly@ucl.ac.uk.

Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

O'Connor A; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK antoinette.o'connor@ucl.ac.uk.; UK Dementia Research Institute at UCL, London, UK.; Abel E; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK.; Benedet AL; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Poole T; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Department of Medical Statistics, London School of Hygiene & Tropical Medicine, London, UK.; Ashton N; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Centre for Age-Related Medicine, Stavanger University Hospital, Stavanger, Norway.; NIHR Biomedical Research Centre for Mental Health & Biomedical Research Unit for Dementia, South London & Maudsley NHS Foundation Trust, London, UK.; King's College London Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, London, UK.; Weston PSJ; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Heslegrave AJ; UK Dementia Research Institute at UCL, London, UK.; Ryan N; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK.; Barker S; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK.; Blennow K; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Zetterberg H; UK Dementia Research Institute at UCL, London, UK.; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Fox NC; Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK.

Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

Setó-Salvia N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.; Esteras N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; de Silva R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.; de Pablo-Fernandez E; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.; Arber C; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Toomey CE; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Polke JM; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, UK.; Morris HR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Rohrer JD; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Abramov AY; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Patani R; The Francis Crick Institute, London, UK.; Wray S; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.; Warner TT; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1582-4934 (Electronic) Linking ISSN: 15821838 NLM ISO Abbreviation: J Cell Mol Med Subsets: MEDLINE

Fawcett KA; Murphy SM; Polke JM; Wray S; Burchell VS; Manji H; Quinlivan RM; Zdebik AA; Reilly MM; Houlden H; Fawcett, Katherine A; Murphy, Sinead M; Polke, James M; Wray, Selina; Burchell, Victoria S; Manji, Hadi; Quinlivan, Ros M; Zdebik, Anselm A; Reilly, Mary M; Houlden, Henry

Journal of Neurology, Neurosurgery & Psychiatry. Dec2012, Vol. 83 Issue 12, p1204-1209. 6p.