부산대학교 도서관

Geological Magazine. 134:877-883

Ray, K. K.; Molemans, B.; Schoonen, W. M.; Giovas, P.; Bray, S.; Kiru, G.; Murphy, J.; Banach, M.; De Servi, S.; Gaita, D.; Gouni-Berthold, I.; Hovingh, G. K.; Jozwiak, J. J.; Jukema, J. W.; Kiss, R. G.; Kownator, S.; Iversen, H. K.; Maher, V.; Masana, L.; Parkhomenko, A.; Peeters, A.; Clifford, P.; Raslova, K.; Siostrzonek, P.; Romeo, Stefano, 1976; Tousoulis, D.; Vlachopoulos, C.; Vrablik, M.; Catapano, A. L.; Poulter, N. R.; Da Vinci study, Da Vinci study

European Journal of Preventive Cardiology. 28(11):1279-1289

Makwikwi T; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa. tendaimakwikwi25@gmail.com.; Schoonen M; Centre for Human Metabolomics, Desmond Tutu School of Medicine, Faculty of Health Sciences, North-West University, Potchefstroom, South Africa.; Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.; van der Westhuizen FH; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za.

Publisher: Springer International Country of Publication: Germany NLM ID: 9504370 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1440 (Electronic) Linking ISSN: 09462716 NLM ISO Abbreviation: J Mol Med (Berl) Subsets: MEDLINE; In Process

van der Ven, Leo T.M. ; Schoonen, Willem G. ; Groot, Renate M. ; den Ouden, Fatima ; Heusinkveld, Harm J. ; Zwart, Edwin P. ; Hodemaekers, Hennie M. ; Rorije, Emiel ; de Knecht, Joop

In Toxicology and Applied Pharmacology 15 November 2020 407

Zijderhand, Casper F. ; Veen, Kevin M. ; Caliskan, Kadir ; Schoonen, Tamar ; Mokhles, M. Mostafa ; Bekkers, Jos A. ; Manintveld, Olivier C. ; Constantinescu, Alina A. ; Brugts, Jasper J. ; Bogers, Ad J.J.C. ; Takkenberg, Johanna J.M.

In The Annals of Thoracic Surgery August 2020 110(2):684-691

Hernandez RK; Center for Observational Research, Amgen Inc., Thousand Oaks, California, USA.; Critchlow CW; Real World Evidence Strategies, Thousand Oaks, California, USA.; Dreyer N; University of North Carolina, Chapel Hill, North Carolina, USA.; Lash TL; Department of Epidemiology, Emory University, Atlanta, Georgia, USA.; Reynolds RF; Global Epidemiology, GSK, New York, New York, USA.; Sørensen HT; Department of Clinical Epidemiology and Center for Population Medicine, Aarhus University, Aarhus, Denmark.; Lange JL; Center for Observational Research, Amgen Inc., Thousand Oaks, California, USA.; Gatto NM; Aetion, New York, New York, USA.; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA.; Sobel RE; Regeneron Pharmaceuticals, Tarrytown, New York, USA.; Lai EC; School of Pharmacy, Institute of Clinical Pharmacy and Pharmaceutical Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan.; Population Health Data Center, National Cheng Kung University, Tainan, Taiwan.; Schoonen M; Center for Observational Research, Amgen Ltd, Uxbridge, UK.; Brown JS; TriNetX, Cambridge, Massachusetts, USA.; Christian JB; Target RWE, Durham, North Carolina, USA.; Brookhart MA; Department of Population Health Sciences, Duke University, Durham, North Carolina, USA.; Bradbury BD; Center for Observational Research, Amgen Inc., Thousand Oaks, California, USA.; Department of Epidemiology, University of California, Los Angeles, California, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 0372741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-6535 (Electronic) Linking ISSN: 00099236 NLM ISO Abbreviation: Clin Pharmacol Ther Subsets: MEDLINE

Katz, Aaron J.; Chia, Victoria M.; Schoonen, Wilma M.; Kelsh, Michael A.

Cancer Causes & Control, 2015 Nov 01. 26(11), 1627-1642.

du Preez MJ; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; Schoonen M; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; Williams ME; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; Bisschoff M; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; van der Westhuizen FH; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.

Publisher: Wiley Country of Publication: England NLM ID: 0245331 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2362 (Electronic) Linking ISSN: 00142972 NLM ISO Abbreviation: Eur J Clin Invest Subsets: MEDLINE

Heusinkveld, Harm J. ; Schoonen, Willem G. ; Hodemaekers, Hennie M. ; Nugraha, Ananditya ; Sirks, Jan-Jaap ; Veenma, Vivianne ; Sujan, Carina ; Pennings, Jeroen L.A. ; Wackers, Paul F. ; Palazzolo, Luca ; Eberini, Ivano ; Rorije, Emiel ; van der Ven, Leo T.M.

In Reproductive Toxicology September 2020 96:114-127

Schoonen, M.; Smuts, I.; Louw, R.; Elson, J.L.; van Dyk, E.; Jonck, L.M.; Rodenburg, R.J.T.; van der Westhuizen, F.H.

Journal of Molecular Diagnostics, 21, 3, pp. 503-513

Gao F; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Schon KR; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Academic Department of Medical Genetics, University of Cambridge, Cambridge, UK.; Vandrovcova J; UCL Queen Square Institute of Neurology, University College London, London, UK.; Köken ÖY; Department of Pediatric Neurology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.; Raga S; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Division of Neurology, Neuroscience Institute, University of Cape Town, 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, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Schoonen M; Focus Area for Human Metabolomics, North-West University, Potchefstroom, South Africa.; Rani N; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; Tomaselli P; Department of Neuroscience, Clinical Hospital of Ribeirão Preto Medical School of, University of São Paulo, São Paulo, Brazil.; Baskar D; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bengaluru, India.; Kapapa M; Department of Physiotherapy, School of Health Sciences, University of Zambia, University Teaching Hospital Neurology Research Office, Lusaka, Zambia.; Polat I; Izmir Biomedicine and Genome Center (IBG), Izmir, Turkey.; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey.; Wilson LA; UCL Queen Square Institute of Neurology, University College London, London, UK.; Thangaraj K; CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, Telangana, India.; Yiş U; Pediatric Neurology Department, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.; Nandeesh BN; Department of Neuropathology, National Institute of Mental Health & Neurosciences (NIMHANS), Bengaluru, India.; Bearden D; Department of Neurology, University of Rochester, Rochester, New York, USA.; Kvalsund M; Department of Neurology, University of Rochester, Rochester, New York, USA.; Department of Internal Medicine, University of Zambia School of Medicine, Lusaka, Zambia.; Henning F; Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.; Vengalil S; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bengaluru, India.; Nalini A; Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bengaluru, India.; Sobreira CFR; Department of Neuroscience, Clinical Hospital of Ribeirão Preto Medical School of, University of São Paulo, São Paulo, Brazil.; Marques W; Department of Neuroscience, Clinical Hospital of Ribeirão Preto Medical School of, University of São Paulo, São Paulo, Brazil.; Topoloğlu H; Yeditepe University Hospitals, Istanbul, Turkey.; Hanna MG; UCL Queen Square Institute of Neurology, University College London, London, UK.; Yareeda S; Nizam's Institute of Medical Sciences (NIMS), Hyderabad, Telangana, India.; Vishnu VY; Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.; van der Westhuizen FH; 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.; Meldau S; Division of Chemical Pathology, Department of Pathology, University of Cape Town Medical Faculty, Cape Town, South Africa.; National Health Laboratory Service, Cape Town, South Africa.; Wilmshurst J; Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; Division of Neurology, Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Çavdarlı B; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazıt University, Ankara, Turkey.; Heckmann J; Neuroscience Institute, University of Cape Town, Cape Town, South Africa.; Division of Neurology, Department of Medicine, Groote Schuur Hospital, Cape Town, South Africa.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Pepijn M. Schoonen; Yannick P. Kok; Elles Wierenga; Bjorn Bakker; Floris Foijer; Diana C. J. Spierings; Marcel A. T. M. vanVugt

Molecular Oncology, Vol 13, Iss 11, Pp 2422-2440 (2019)

Michel, F. Marc; Ehm, Lars; Antao, Sytle M.; Lee, Peter L.; Chupas, Peter J.; Liu, Gang; Strongin, Daniel R.; Schoonen, Martin A. A.; Phillips, Brian L.; Parise, John B.

Science, 2007 Jun . 316(5832), 1726-1729.

Sicelosethu S. Siro; Jeannine Baumgartner; Maryke Schoonen; Jennifer Ngounda; Linda Malan; Elizabeth A. Symington; Cornelius M. Smuts; Lizelle Zandberg

Frontiers in Nutrition, Vol 8 (2021)

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

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

Schoonen M; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa. maryke.schoonen@nwu.ac.za.; Fassad M; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Patel K; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Bisschoff M; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; Vorster A; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; Makwikwi T; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; 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.; Vorster BC; Laboratory for Inborn Errors of Metabolism (PLIEM), Centre for Human Metabolomics (CHM), Potchefstroom Campus, North-West University, Potchefstroom, South Africa.; Vandrovcova J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Hanna MG; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Taylor RW; Mitochondrial Research Group, 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; Mitochondrial Research Group, 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.; Wilson LA; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; van der Westhuizen FH; Mitochondria Research Group, Biomedical and Molecular Metabolism Research (BioMMet), North-West University, Potchefstroom, South Africa.; Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa. izelle.smuts@up.ac.za.

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

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Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)