부산대학교 도서관

Cadwgan J; Goodwin J; Babcock B; Brick M; Chin R; Easton A; Green B; Hannan S; Inward RPD; Kinsella S; King C; Kurian MA; Levine P; Mallick A; Parr J; Partridge CA; Amin S; Lumsden D; Cross JH; Lim MJ; Childs A-M; Ganesan V; Hart A; Kneen R; McFarland R; Wassmer E; Whitehouse WP; Williams R; Arichi T; Burford V; Crombie S; Damodaran L; Eunson P; Gringras P; Gordon A; Harrop E; Martin C; Rush C; Tuffrey C

Developmental Medicine & Child Neurology. 66:1590-1599

Alghamdi M; Division of Medical Genetics, Department of Pediatrics, King Saud University, College of Medicine, Riyadh, Saudi Arabia; Department of Pediatrics, King Saud University Medical City Riyadh, Saudi Arabia. Electronic address: Malghamdi@ksu.edu.sa.; Alahmad A; Kuwait Medical Genetics Centre, Ghanima Alghanim Building, Al-Sabah Medical Area, Kuwait.; Alaboudi M; Neuromuscular Medicine Center at Case Western University, University Hospitals Cleveland Medical Center, United States of America.; Alsheikh S; Department of Neuroradiology, King Fahad Medical City, Altakassusi Alliance Medical, Riyadh, Saudi Arabia.; Alanazy MH; Department of Medicine, King Saud University Medical City and College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Albash B; Kuwait Medical Genetics Centre, Ghanima Alghanim Building, Al-Sabah Medical Area, Kuwait.; Alaqeel A; Department of Paediatrics, Ahmadi Hospital, Kuwait Oil Company (KOC), Kuwait.; Almontashiri NA; Center for Genetics and Inherited Diseases (CGID) and Faculty of Applied Medical Science, Taibah University, Madinah, Saudi Arabia.; Jamjoom D; Department of Radiology, King Saud University Medical City and College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Bashiri FA; Division of Neurology, Department of Pediatric, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Hamad MH; Division of Neurology, Department of Pediatric, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.; Ali HH; Research Center, College of Medicine, King Saud University, Saudi Arabia.; Alwatidi M; Research Center, College of Medicine, King Saud University, Saudi Arabia.; Alharbi E; Center for Genetics and Inherited Diseases (CGID) and Faculty of Applied Medical Science, Taibah University, Madinah, Saudi Arabia.; Omar S; Kuwait Medical Genetic Centre, Ministry of Health, Suliabikhat 80901, Kuwait.; Marafi D; Kuwait Medical Genetic Centre, Ministry of Health, Suliabikhat 80901, Kuwait; Department of Pediatrics, College of Medicine, Kuwait University, PO Box 24923, Safat 13110, Kuwait; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya 52700, Kuwait.; Alabdulrazzaq F; Kuwait Institute for Medical Specialization, Suliabikhat, PO Box 1793, Safat 13018, Kuwait.; Arold ST; KAUST Center of Excellence for Smart Health, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; W Taylor R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Hanley PJ; Center for Cancer and Immunology, Children's National Hospital, and George Washington University, Washington, DC, USA; International Society for Cell and Gene Therapy (ISCT), Vancouver, BC. Electronic address: PHanley@childrensnational.org.; Ting AE; International Society for Cell and Gene Therapy (ISCT), Vancouver, BC; BRL C> Consulting, Shaker Heights, Ohio, USA.; Tsokas K; Syracuse University, Syracuse, New York, USA.; Bates J; California Institute of Technology, Pasadena, California, USA.; McFarland R; Advanced Regenerative Manufacturing Institute, Manchester, New Hampshire, USA.; Salzman R; Armatus Bio, Columbus, Ohio, USA.; Mosher JT; International Society for Stem Cell Research (ISSCR), Evanston, IL.

Publisher: Elsevier Country of Publication: England NLM ID: 100895309 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-2566 (Electronic) Linking ISSN: 14653249 NLM ISO Abbreviation: Cytotherapy Subsets: MEDLINE

Fassad MR; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Oláhová M; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK.; Collier JJ; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.; Knowles CVY; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Mavraki E; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Elbracht M; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Güzel N; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Herberhold T; Centre of Epilepsy for Children and Adolescents, Hospital for Neuropediatrics and Neurological Rehabilitation, Schoen Klinik Vogtareuth, Vogtareuth, Germany.; Kurth I; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Maier A; Medical Treatment Center for Adults With Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany.; Mattern L; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; McCullagh H; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Institute of Clinical Medicine, Tartu University Hospital, University of Tartu, Tartu, Estonia.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Zhang L; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.; McFarland R; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Taylor RW; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Pickett SJ; Taylor RW; McFarland R

Cell Metabolism. 36:1436-1438

Hassaan HM; Pediatric Department, Genetic Division, Faculty of Medicine, Cairo University, Cairo, Egypt.; Pyle A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Almenabawy N; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.; Robertson FM; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Girgis MY; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.; Mahmoud IGED; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.; Amer F; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.; Samaha M; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.; Shaheen Y; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.; ElNaggar W; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.; Abdoh D; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.; Mehaney DA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.; Meguid IEA; Pediatric Department, Genetic Division, Faculty of Medicine, Cairo University, Cairo, Egypt.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Selim L; Pediatric Department, Neurology and Metabolic Division, Faculty of Medicine Cairo University, Cairo, Egypt.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Pizzamiglio C; Department of Neuromuscular Diseases, University College London 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.; Stefanetti RJ; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle BRC, NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; McFarland R; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle BRC, NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Thomas N; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle BRC, NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Ransley G; Leonard Wolfson Experimental Neurology Centre, University College London Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Hugerth M; Abliva AB, SE-223 81 Lund, Sweden.; Grönberg A; Abliva AB, SE-223 81 Lund, Sweden.; Serrano SS; Abliva AB, SE-223 81 Lund, Sweden.; Mitochondrial Medicine, Department of Clinical Sciences, Lund University, SE-221 84 Lund, Sweden.; Elmér E; Abliva AB, SE-223 81 Lund, Sweden.; Mitochondrial Medicine, Department of Clinical Sciences, Lund University, SE-221 84 Lund, Sweden.; Hanna MG; Department of Neuromuscular Diseases, University College London 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.; Hansson MJ; Abliva AB, SE-223 81 Lund, Sweden.; Mitochondrial Medicine, Department of Clinical Sciences, Lund University, SE-221 84 Lund, Sweden.; Gorman GS; Wellcome Centre for Mitochondrial Research, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NIHR Newcastle BRC, NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Pitceathly RDS; Department of Neuromuscular Diseases, University College London 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.

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

Aughey G; Cali E; Maroofian R; Zaki MS; Pagnamenta AT; Rahman F; Menzies L; Shafique A; Suri M; Roze E; Aguennouz M; Ghizlane Z; Saadi SM; Ali Z; Abdulllah U; Cheema HA; Anjum MN; Morel G; McFarland R; Altunoglu U; Kraus V; Shoukier M; Murphy D; Flemming K; Yttervik H; Rhouda H; Lesca G; Murtaza BN; Rehman MU; SYNAPS Study Group; Consortium GE; Seo GH; Beetz C; Kayserili H; Krioulie Y; Chung WK; Naz S; Maqbool S; Gleeson J; Baig SM; Efthymiou S; Taylor JC; Severino M; Jepson JE; Houlden H.

Merkevicius K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Feichtinger RG; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, 261000 Weifang, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City, 266-0007, Japan.; Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Schröder S; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, 18051 Rostock, Germany.; Pomeranian Medical University, 70-204 Szczecin, Poland.; Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, 72764 Reutlingen, Germany.; Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Lifera Omics, 11452 Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alston CL; Mitochondrial Research Group, 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.; Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, 050474 Bucharest, Romania.; Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, 28041 Madrid, Spain.; Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016 Tübingen, Germany.; Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, 8008 Zurich, Switzerland.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Bouchereau J; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, 52242 Iowa, USA.; Casas K; Sanford Health, Medical Genetics, Fargo, 58103 North Dakota, USA.; Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, 75015 Paris, France.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, 1169-045 Lisboa, Portugal.; Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Fatma Gokçay G; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, 34390 Istanbul, Turkey.; Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, 8032 Zürich, Switzerland.; Heath O; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, 76133 Karlsruhe, Germany.; Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, 80336 Munich, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.; Huemer M; Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria.; Division of Metabolism, University Children's Hospital, 8008 Zürich, Switzerland.; Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, 1169-045 Lisboa, Portugal.; Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal.; Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Seher Kasapkara Ç; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, 06800 Ankara, Türkiye.; Kern I; Department of Pediatrics, Geneva University Hospital, 1205 Geneva, Switzerland.; Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, 63739 Aschaffenburg, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; Koch J; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga, LV-1007, Latvia.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.; Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, 80337 Munich, Germany.; Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; McFarland R; Mitochondrial Research Group, 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.; Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary.; Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium.; Oliveira A; Medicine Department, Santa Maria University Hospital, 1649-028 Lisbon, Portugal.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio 44195, USA.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Pichard S; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, 7550000 Santiago, Chile.; Rivera I; iMed.ULisboa - Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, 1649-003 Lisbon, Portugal.; Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', 80131 Naples, Italy.; Schiff M; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Carl-Neuberg-Street 1, 30625, Hannover, Germany.; Smith WE; MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Division of Genetics, Portland, ME 04102, USA.; Soares S; Neuropediatrics Unit, of the Pediatrics Department, of the Pedro Hispano Hospital, ULSM, 4464 Matosinhos, Portugal.; Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Steinbrucker K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, 01-211 Warsaw, Poland.; Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.; Taylor RW; Mitochondrial Research Group, 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.; Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; van Konijnenburg EH; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.; Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.; Zsidegh P; Pediatric Centre, Bókay Street Department, Semmelweis University, 1083 Budapest, Hungary.; Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Sperl W; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, OX3 7LE, UK.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, 80337 Munich, Germany.; Mayr JA; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Wortmann SB; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.

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

Jouda H; Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Browning AC; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, England, UK.; Aftab AM; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, England, UK.; Mahmoud I; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, England, UK.; Bibi S; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, England, UK.; McFarland R; Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Cumbria, Northumberland, Tyne and Wear NHS Foundation Trust and Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, UK.; Pickett SJ; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Cumbria, Northumberland, Tyne and Wear NHS Foundation Trust and Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, UK.; Mitochondrial Research Group, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.; Devine H; Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Cumbria, Northumberland, Tyne and Wear NHS Foundation Trust and Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, UK.

Publisher: British Medical Association Country of Publication: England NLM ID: 101775450 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-6140 (Electronic) Linking ISSN: 26326140 NLM ISO Abbreviation: BMJ Neurol Open Subsets: PubMed not MEDLINE

Kaiyrzhanov R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160019, Kazakhstan.; Thompson K; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Mukushev A; Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215-5400, USA.; Zharylkassyn A; The Institute of Childhood Neurology, Almaty 050000, Kazakhstan.; Prasad C; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.; Ghayoor Karimiani E; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, UK.; Alvi JR; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Niyazov D; Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.; Alahmad A; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 9413813965, Iran.; Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde 541 28, Sweden.; Albash B; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.; Alaqeel A; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.; Charif M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; Genetic and Immuno-Cell Therapy Team, Mohammed First University, Oujda 60000, Morocco.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran 14197 33151, Iran.; Kalantar SM; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Lenaers G; Angers University, MitoLab Team, MitoVasc Unit, CNRS UMR6015, INSERM U1083, SFR ICAT, Angers 49035, France.; Department of Neurology, University Hospital of Angers, Angers 49035, France.; Vahidi Mehrjardi MY; Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.; Mirabutalebi SH; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Carere DA; GeneDx Inc., Gaithersburg, MD 20877, USA.; Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; McFarland R; Mitochondrial Research Group, 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.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Napier M; GeneDx Inc., Gaithersburg, MD 20877, USA.; Belanger-Quintana A; Servicio de Pediatría, Enfermedades Metabólicas Hereditarias, Hospital Universitario Ramón y Cajal, Madrid 28034, Spain.; Prasad AN; Division of Pediatric Neurology, Department of Pediatrics, Western University, London, ON, Canada N6A 5W9.; Jakobczyk J; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.; Roubertie A; Department of Neuropaediatrics, Gui de Chauliac Hospital, Montpellier University Hospital, Institut des Neurosciences, INSERM U 1298, Montpellier 34091, France.; Rupar T; Department of Pediatrics, University of Western Ontario, London, ON, Canada N6A5W9.; Departments of Biochemistry, Pathology and Laboratory Medicine, University of Western Ontario, London, ON, Canada N6A5W9.; Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Sazanov L; Institute of Science and Technology Austria, Klosterneuburg A-3400, Austria.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Taylor RW; Mitochondrial Research Group, 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.; Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Frezatti RSS; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; Record CJ; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Wilson LA; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Alves GM; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; Dominik N; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Patel K; Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Vandrovcova J; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Männikkö R; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Pitceathly RDS; Department of Neuromuscular Diseases, Queen Square Centre for 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.; Sobreira CFDR; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; McFarland R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, 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; Translational and Clinical Research Institute, Faculty of Medical Sciences, Wellcome Centre for Mitochondrial Research, 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.; Houlden H; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Hanna MG; Department of Neuromuscular Diseases, Queen Square Centre for 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.; Reilly MM; Department of Neuromuscular Diseases, Queen Square Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Marques W; Department of Neurosciences and Behaviour Sciences, Neuromuscular Disorders, University of São Paulo, Ribeirao Preto 14040-900, Brazil.; National Institute of Sciences and Technology (INCT)-Translational Medicine Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) e Fundo de Amparo à Pesquisa do Estado de São Paulo (FAPESP), Ribeirao Preto, São Paulo 14040-900, Brazil.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Bangel KA; Lim AZ; Blain A; Ng YS; Winder A; Bulmer J; Gorman G; Baker M; McFarland R

BMC Neurol
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)

McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Hyslop LA; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Feeney C; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Pillai RN; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Blakely EL; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Moody E; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Prior M; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Devlin A; Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Herbert M; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Biosciences Institute, Newcastle University, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, United Kingdom.; Department of Anatomy and Developmental Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia.; Choudhary M; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Stewart JA; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Turnbull DM; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Hyslop LA; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Blakely EL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Aushev M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, United Kingdom.; Marley J; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, United Kingdom.; Takeda Y; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, United Kingdom.; Department of Anatomy and Developmental Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia.; Pyle A; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Moody E; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Feeney C; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Dutton J; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Shaw C; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Smith SJ; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Craig K; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Alston CL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Lister L; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Endacott K; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Byerley S; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; McDermott H; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Wilson K; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Botham L; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Matthew B; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Prathalingam N; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Prior M; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Murdoch A; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Turnbull DM; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Hudson G; Mitochondrial Research Group, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Choudhary M; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Taylor RW; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Pillai RN; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Stewart JA; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; McFarland R; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.; Herbert M; Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, Centre for Life, Newcastle upon Tyne, United Kingdom.; Department of Anatomy and Developmental Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Blickhäuser B; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Neuhofer CM; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Floride E; Institute for Human Genetics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Nesbitt V; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Fratter C; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Koch J; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands.; Kauffmann B; Klinikum Bremen Mitte, Department of Pediatrics, Neuropediatrics, 28205 Bremen, Germany.; Catarino C; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; Schlieben LD; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Kopajtich R; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy.; Sadun AA; Doheny Eye Institute, Pasadena, CA 91105, USA.; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA 10833, USA.; 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, NE2 4HH, UK.; Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy.; Paquay S; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium.; Nassogne MC; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium.; Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Wortmann S; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands.; Poulton J; Nuffield Department of Women's and Reproductive Health University of Oxford, The Women's Centre, Oxford, OX3 9DU, UK.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.

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

Bisschoff M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; Dercksen M; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Schoonen M; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Vorster BC; Centre for Human Metabolomics, North-West University, Potchefstroom, South Africa.; van der Watt G; Division of Chemical Pathology, National Health Laboratory Services, University of Cape Town, Cape Town, South Africa.; Spencer C; Division of Human Genetics, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.; Naidu K; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.; Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.; Meldau S; Division of Chemical Pathology, National Health Laboratory Services, 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.; Patel K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Vandrovcova J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Wanders RJA; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.; van der Westhuizen FH; Focus area for Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.VanDerWesthuizen@nwu.ac.za.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Houghton D; Ng YS; Jackson MA; Stefanetti R; Hynd P; Aogáin MM; Stewart CJ; Lamb CA; Bright A; Feeney C; Newman J; Turnbull DM; McFarland R; Blain AP; Gorman GS

Gastro Hep Adv
Gastro Hep Advances, Vol 1, Iss 4, Pp 666-677 (2022)

Smith LA; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK. laura-alexandra.smith@newcastle.ac.uk.; Olkhova EA; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; Translational Biosciences, Applied Sciences, Ellison Building, Northumbria University, Newcastle Upon Tyne, NE1 8ST, UK.; Lax NZ; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; Ng YS; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK.; National Institute for Health and Care Research (NIHR), Newcastle Biomedical Research Centre (BRC), Newcastle University, Newcastle Upon Tyne, NE4 5PL, UK.; Taylor RW; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK.; Gorman GS; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK.; National Institute for Health and Care Research (NIHR), Newcastle Biomedical Research Centre (BRC), Newcastle University, Newcastle Upon Tyne, NE4 5PL, UK.; Erskine D; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.; McFarland R; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK. robert.mcFarland@newcastle.ac.uk.; NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 4LP, UK. robert.mcFarland@newcastle.ac.uk.

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

Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia. daniella.hock@unimelb.edu.au.; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. daniella.hock@unimelb.edu.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. daniella.hock@unimelb.edu.au.; Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Institute for Health and Sport (iHeS), Victoria University, Melbourne, VIC, 3011, Australia.; Semcesen LN; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Lake NJ; Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.; Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, 3800, Australia.; Amarasekera SSC; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Stait T; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Tregoning S; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Frajman LE; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Bournazos AM; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, 2145, Australia.; Children's Medical Research Institute, Westmead, NSW, 2145, Australia.; School of Medical Sciences, Faculty of Medicine, University of Sydney, Camperdown, NSW, 2006, Australia.; Robinson DRL; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Ball M; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Reljic B; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, 3800, Australia.; Ryder B; Paediatric and Adult National Metabolic Service, Te Toka Tumai, Te Whatu Ora Health New Zealand, Auckland, New Zealand.; Wallis MJ; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, 7001, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, 7001, Australia.; Vasudevan A; Royal Women's Hospital, Melbourne, VIC, 3052, Australia.; Beck C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Peters H; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Lee J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Tan NB; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.; Karlaftis V; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Attard C; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Monagle P; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Department of Haematology, Royal Children's Hospital, Parkville, VIC, Australia.; Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia.; Samarasinghe A; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Brown R; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, 77021, USA.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.; McFarland R; Mitochondrial Research Group, 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; Mitochondrial Research Group, 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.; Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, 3800, Australia.; Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, 2145, Australia.; Children's Medical Research Institute, Westmead, NSW, 2145, Australia.; School of Medical Sciences, Faculty of Medicine, University of Sydney, Camperdown, NSW, 2006, Australia.; Stark Z; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Compton AG; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Thorburn DR; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.thorburn@mcri.edu.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.thorburn@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia. david.thorburn@mcri.edu.au.; Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Melbourne, VIC, 3010, Australia. david.stroud@unimelb.edu.au.; Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.stroud@unimelb.edu.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, 3052, Australia. david.stroud@unimelb.edu.au.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE