부산대학교 도서관

Gomathy, S.; Srivastava, PMV.; Garg, A.; Agarwal, A.; Mishra, R.; Reyaz, A.; Ahmed, T.; Bhatia, R.; Priyanka, Y.; Goel, V.; Macken, WL.; Pitceathly, RDS.; Hanna, M.; Vishnu, V.

In Neuromuscular Disorders October 2023 33 Supplement 1:S190-S190

Gomathy, S.; Srivastava, PMV.; Garg, A.; Agarwal, A.; Mishra, R.; Reyaz, A.; Ahmed, T.; Bhatia, R.; Priyanka, Y.; Goel, V.; Macken, WL.; Pitceathly, RDS.; Hanna, M.; Vishnu, V.

NEUROMUSCULAR DISORDERS; OCT 2023, 33 pS190-pS190, 1p. Supplement: SUPP1

Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Israel, 9112001.; Spicher C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Scheer E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.; Cech J; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.; Folland C; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Frey T; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Alberta T2N 1N4, Canada.; Keren B; Department of Genetics and Referral Center for Intellectual disabilities of rare causes, AP-HP, Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, 75013, Paris, France.; Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Otten CE; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.; Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.; Petit F; CHU Lille, Clinique de génétique Guy Fontaine, F-59000 Lille, France.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.; Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; University Children`s Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, 8057 Zurich, Switzerland.; Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Sanchev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network - Randwick, Sydney, NSW 2031, Australia.; Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; Tammer F; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Tyndall A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Alberta T2N 1N4, Canada.; Devys D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Vincent SD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Israel, 9112001.; Tora L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.

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

Horton RH; Clinical Ethics, Law and Society, Wellcome Trust Centre for Human Genetics, Oxford, UK.; Centre for Personalised Medicine, St Anne's College, Oxford, UK.; Clinical Ethics, Law and Society, University of Southampton, Southampton, UK.; 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.; 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.; Lucassen AM; Clinical Ethics, Law and Society, Wellcome Trust Centre for Human Genetics, Oxford, UK anneke.lucassen@well.ox.ac.uk.; Centre for Personalised Medicine, St Anne's College, Oxford, UK.; Clinical Ethics, Law and Society, University of Southampton, Southampton, UK.

Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 7513619 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4257 (Electronic) Linking ISSN: 03066800 NLM ISO Abbreviation: J Med Ethics Subsets: MEDLINE

Vishnu VY; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Reyaz A; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Mishra R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Ahmad T; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Kretkiewicz MM; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Macken WL; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, 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.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.; Dominik N; Department of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.; Morrow JM; Department of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.; Bhatia R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Wilson LA; Department of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.; Houlden H; Department of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.; Hanna MG; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK. m.hanna@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. m.hanna@ucl.ac.uk.; Bugiardini E; Department of Neuromuscular Diseases, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, UK.; van der Maarel SM; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Srivastava MVP; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India. vasanthapadma123@gmail.com.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Wilson LA; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Perry LD; Institute of Child Health and Centre for Neuromuscular Diseases, Neurosciences Unit, The Dubowitz Neuromuscular Centre, University College London, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Schon KR; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Frezatti RSS; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Raga S; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Naidu K; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.; Köken ÖY; Faculty of Medicine, Department of Pediatric Neurology, Akdeniz University, Antalya, Turkey.; Polat I; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey.; Kapapa MM; Department of Physiotherapy, University of Zambia School of Health Sciences & University Teaching Hospital Neurology Research Office, Lusaka, Zambia.; Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Nel M; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.; Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Gao F; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Schoonen M; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Bisschoff M; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Vorster A; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Jonvik H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Human R; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; Lubbe E; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; Nonyane M; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.; Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.; Srivastava K; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.; Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Reyaz A; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Mishra R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Trainor CI; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Steyn EC; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.; Mahungu AC; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.; van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey.; Hiz AS; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey.; Çavdarlı B; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Semerci Gündüz CN; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey.; Ceylan GG; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey.; Nagappa M; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.; Tallapaka KB; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, Telangana, India.; Govindaraj P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; van der Maarel SM; Department of Human Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Narayanappa G; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.; Nandeesh BN; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.; Wa Somwe S; Department of Clinical Sciences, School of Medicine and Health Sciences, University of Lusaka, Lusaka, Zambia.; Bearden DR; University of Zambia Department of Educational Psychology, Lusaka, Zambia.; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY 14642, USA.; Kvalsund MP; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, NY 14642, USA.; Department of Internal Medicine, University of Zambia School of Medicine, Lusaka, Zambia.; Ramdharry GM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Oktay Y; Izmir International Biomedicine and Genome Institute, Dokuz Eylül University, Izmir, Turkey.; Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey.; Yiş U; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Topaloğlu H; Yeditepe University Hospitals, Istanbul, Turkey.; Sarkozy A; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Henning F; Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.; Wilmshurst JM; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Heckmann JM; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; van der Westhuizen FH; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Sobreira CFDR; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Tomaselli PJ; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Marques W Jr; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Bhatia R; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.; Srivastava MVP; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Yareeda S; Department of Neurology, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, Telangana, India.; Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.; Vishnu VY; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Thangaraj K; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, Telangana, India.; Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Muntoni F; Institute of Child Health and Centre for Neuromuscular Diseases, Neurosciences Unit, The Dubowitz Neuromuscular Centre, University College London, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, 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

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.; McKittrick C; 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.; Ellmers R; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Eggleton K; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, 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.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Patel Y; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, 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.; Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.; Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Sarkozy A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Footitt E; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Davison J; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Rahman S; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, 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.; Quinlivan R; 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.; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, 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. j.vandrovcova@ucl.ac.uk.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. r.pitceathly@ucl.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Woodward CE; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BH, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.; Lucassen AM; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.; Clinical Ethics and Law Group (CELS), Faculty of Medicine, University of Southampton, Southampton, UK.; Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK. r.pitceathly@ucl.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print Cited Medium: Internet ISSN: 1471-0064 (Electronic) Linking ISSN: 14710056 NLM ISO Abbreviation: Nat Rev Genet Subsets: MEDLINE