부산대학교 도서관

Bugiardini, E; Mitchell, AL; Dalla Rosa, I; Horning-Do, HT; Pitmann, AM; Poole, OV; Holton, JL; Shah, S; Woodward, C; Hargreaves, I; Quinlivan, R; Amunts, A; Wiesner, RJ; Houlden, H; Holt, IJ; Hanna, MG; Pitceathly, RDS; Spinazzola, A

Human molecular genetics. 28(16):2711-2719

Knuuti, J; Wijns, W; Saraste, A; Capodanno, D; Barbato, E; Funck-Brentano, C; Prescott, E; Storey, RF; Deaton, C; Cuisset, T; Agewall, S; Dickstein, K; Edvardsen, T; Escaned, J; Gersh, BJ; Svitil, P; Gilard, M; Hasdai, D; Hatala, R; Mahfoud, F; Masip, J; Muneretto, C; Valgimigli, M; Achenbach, S; Bax, JJ; Neumann, FJ; Sechtem, U; Banning, AP; Bonaros, N; Bueno, H; Bugiardini, R; Chieffo, A; Crea, F; Czerny, M; Delgado, V; Dendale, P

European heart journal. 41(3):407-477

Hochman, JS; Reynolds, HR; Bangalore, S; O'Brien, SM; Alexander, KP; Senior, R; Boden, WE; Stone, GW; Goodman, SG; Lopes, RD; Lopez-Sendon, J; White, HD; Maggioni, AP; Shaw, LJ; Min, JK; Picard, MH; Berman, DS; Chaitman, BR; Mark, DB; Spertus, JA; Cyr, DD; Bhargava, B; Ruzyllo, W; Wander, GS; Chernyavskiy, AM; Rosenberg, YD; Maron, DJ; Mavromatis, K; Miller, T; Banerjee, S; Abdul-Nour, K; Stone, PH; Jang, JJ; Weitz, S; Arnold, S; Shapiro, MD; El-Hajjar, M; McFalls, EO; Khouri, MG; Goldberg, JL; Goldweit, R; Cohen, RA; Winchester, DE; Kronenberg, M; Heitner, JF; Dauber, IM; Cannan, C; Sudarshan, S; Mehta, PK; Hedgepeth, CM; Sahul, Z; Booth, D; Setty, S; Barua, RS; Hage, F; Dajani, K; Arif, I; Trejo, JF; Gemignani, A; Meadows, JL; Call, JT; Hannan, J; Martin, ET; Vorobiof, G; Moorman, A; Kinlay, S; Rayos, G; Seedhom, A; Kumkumian, G; Sedlis, SP; Tamis-Holland, JE; Saba, S; Badami, U; Marzo, K; Robbins, IH; Hamroff, GS; Little, RW; Lui, CY; Hu, B; Labovitz, AJ; Rodriguez, F; Deedwania, P; Sweeny, J; Spizzieri, C; Hochberg, CP; Salerno, WD; Wyman, R; Zarka, A; Haldis, T; Kohn, JA; Girotra, S; Almousalli, O; Krishnam, MS; Coram, R; Thomas, S; El Shahawy, M; Stafford, J; Abernethy, WB; Zurick, A; Meyer, TM; Rutkin, B; Bokhari, S; Sokol, SI; Hamzeh, I; Turner, MC; Good, AP; Shammas, NW; Chilton, R; Nguyen, PK; Jezior, M; Gordon, PC; Stenberg, R; Pedalino, RP; Wiesel, J; Juang, GJ; Al-Amoodi, M; Wohns, D; Lader, EW; Mumma, M; Dharmarajan, L; McGarvey, JFX; Downes, TR; Cheong, B; Potluri, S; Mastouri, RA; Li, DY; Giedd, K; Old, W; Burt, F; Sokhon, K; Gopal, D; Valeti, US; Kobashigawa, J; Govindan, SC; Manjunath, CN; Pandit, N; Dwivedi, SK; Mathew, A; Gadkari, MA; Satheesh, S; Mathur, A; Christopher, J; Oomman, A; Naik, S; Grant, P; Kachru, R; Kumar, A; Kaul, U; Gamma, RA; de Belder, MA; Nageh, T; Lindsay, SJ; Hoye, A; Donnelly, P; Chauhan, A; Barr, C; Alfakih, K; Henriksen, P; Okane, P; de Silva, R; Conway, DSG; Sirker, AA; Hoole, SP; Witherow, FN; Johnston, N; Luckie, M; Sobolewska, J; Jeetley, P; Travill, C; Braganza, D; Henderson, R; Berry, C; Moriarty, AJ; Glover, JD; Mikhail, G; Gosselin, G; Diaz, A; Phaneuf, DC; Garg, P; Chow, BJW; Bainey, KR; Cheema, AN; Cha, J; Howarth, AG; Wong, G; Uxa, A; Galiwango, P; Lam, A; Mehta, S; Udell, J; Genereux, P; Hameed, A; Daba, L; Hueb, W; Smanio, PEP; de Quadros, AS; Vitola, JV; Marin-Neto, JA; Polanczyk, CA; Carvalho, AC; Alves, AR; Dracoulakis, MDA; Figueiredo, E; Caramori, PR; Tumelero, R; Dall'Orto, F; Mesquita, CT; da Silva, EER; Saraiva, JF; Costantini, C; Demkow, M; Mazurek, T; Drozdz, J; Szwed, H; Witkowski, A; Gajos, G; Pruszczyk, P; Loboz-Grudzien, K; Lesiak, M; Reczuch, KW; Kalarus, Z; Musial, WJ; Bockeria, L; Bershtein, LL; Demchenko, EA; Lopez-Sendon, JL; Peteiro, J; Juanatey, JRG; Sionis, A; Miro, V; Ortuno, FM; Blancas, MG; Luena, JEC; Fernandez-Aviles, F; Chen, JY; Wu, YJ; Ma, YT; Ji, Z; Yang, XC; Lin, WH; Zeng, HS; Fu, X; Yang, B; Wang, ST; Cheng, G; Zhao, YL; Fang, XH; Zeng, QT; Su, X; Li, QX; Nie, SP; Yu, Q; Wang, JA; Zhang, SY; Perna, GP; Provasoli, S; Monti, L; Di Chiara, A; Mortara, A; Galvani, M; Sicuro, M; Calabro, P; Tarantini, G; Racca, E; Briguori, C; Amati, R; Russo, A; Poh, KK; Foo, D; Chua, T; Doerr, R; Sechtem, U; Schulze, PC; Nickenig, G; Schuchlenz, H; Lang, IM; Huber, K; Vertes, A; Varga, A; Fontos, G; Merkely, B; Kerecsen, G; Hinic, S; Beleslin, BD; Cemerlic-Adjic, N; Davidovic, G; Dekleva, MN; Stankovic, G; Apostolovic, S; Escobedo, J; Rosas, EA; Selvanayagam, JB; Thambar, ST; Beltrame, JF; Hillis, GS; Thuaire, C; Steg, PG; Slama, MS; El Mahmoud, R; Nicollet, E; Barone-Rochette, G; Furber, A; Laucevicius, A; Kedhi, E; Riezebos, RK; Suryapranata, H; Ramos, R; Pinto, FJ; Ferreira, N; Guzman, L; Figal, JC; Alvarez, C; Courtis, J; Schiavi, L; Rubio, M; Devlin, GP; Stewart, RAH; Kedev, S; Held, C; Aspberg, J; Sharir, T; Kerner, A; Fukuda, K; Yasuda, S; Nishimura, S; Goetschalckx, K; Hung, CL; Ntsekhe, M; Moccetti, T; Abdelhamid, M; Pop, C; Popescu, BA; Al-Mallah, MH; Ramos, WEM; Kuanprasert, S; Yamwong, S; Khairuddin, A; Ferguson, B; Harrington, R; Williams, D; Berger, J; Newman, J; Sidhu, M; Dzavik, V; Jiang, LX; Keltai, M; Kohsaka, S; Maggioni, A; Mancini, GBJ; Merz, CNB; Weintraub, W; Ballantyne, C; Calfas, KJ; Davidson, M; Friedrich, M; Hachamovitch, R; Kwong, R; Harrell, F; Kullo, I; McManus, B; Cohen, DJ; Bugiardini, R; Celutkiene, J; Lyubarova, R; Mattina, D; Nwosu, S; Broderick, S; Cyr, D; Rockhold, F; Anstrom, K; Jones, P; Phillips, L; Hayes, SW; Friedman, JD; Gerlach, RJ; Kwong, RY; Mongeon, FP; Hung, J; Scherrer-Crosbie, M; Zeng, X; Ali, Z; Arsanjani, R; Budoff, M; Leipsic, J; Nakanishi, R; Youn, T; Orso, F; Zhang, HB; Zhang, LH; Diaz, R; Van de Werf, F; Fleg, J; Kirby, R; Jeffries, N

JAMA cardiology. 4(3):273-286

Valgimigli, M; Bueno, H; Byrne, RA; Collet, JP; Costa, F; Jeppsson, A; Juni, P; Kastrati, A; Kolh, P; Mauri, L; Montalescot, G; Neumann, FJ; Petricevic, M; Roffi, M; Steg, PG; Windecker, S; Zamorano, JL; Badimon, L; Vranckx, P; Agewall, S; Andreotti, F; Antman, E; Barbato, E; Bassand, JP; Bugiardini, R; Cikirikcioglu, M; Cuisset, T; De Bonis, M; Delgado, V; Fitzsimons, D; Gaemperli, O; Galie, N; Gilard, M; Hamm, CW; Ibanez, B; Iung, B; James, S; Knuuti, J; Landmesser, U; Leclercq, C; Lettino, M; Lip, G; Piepoli, MF; Pierard, L; Schwerzmann, M; Sechtem, U; Simpson, IA; Uva, MS; Stabile, E; Storey, RF; Tendera, M; Van de Werf, F; Verheugt, F; Victor, A

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery. 53(1):34-78

Ibanez, B; James, S; Agewall, S; Antunes, MJ; Bucciarelli-Ducci, C; Bueno, H; Caforio, ALP; Crea, F; Goudevenos, JA; Halvorsen, S; Hindricks, G; Kastrati, A; Lenzen, MJ; Prescott, E; Roffi, M; Valgimigli, M; Varenhorst, C; Vranckx, P; Widimsky, P; Collet, JP; Kristensen, SD; Aboyans, V; Baumbach, A; Bugiardini, R; Coman, IM; Delgado, V; Fitzsimons, D; Gaemperli, O; Gershlick, AH; Gielen, S; Harjola, VP; Katus, HA; Knuuti, J; Kolh, P; Leclercq, C; Lip, GYH; Morais, J; Neskovic, AN; Neumann, FJ; Niessner, A; Piepoli, MF; Richter, DJ; Shlyakhto, E; Simpson, IA; Steg, PG; Terkelsen, CJ; Thygesen, K; Windecker, S; Zamorano, JL; Zeymer, U

European heart journal. 39(2):119-177

William L. Macken; Micol Falabella; Caroline McKittrick; Chiara Pizzamiglio; Rebecca Ellmers; Kelly Eggleton; Cathy E. Woodward; Yogen Patel; Robyn Labrum; Genomics England Research Consortium; Rahul Phadke; Mary M. Reilly; Catherine DeVile; Anna Sarkozy; Emma Footitt; James Davison; Shamima Rahman; Henry Houlden; Enrico Bugiardini; Rosaline Quinlivan; Michael G. Hanna; Jana Vandrovcova; Robert D. S. Pitceathly

Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)

Steyaert W; Sagath L; Demidov G; Yépez VA; Esteve-Codina A; Gagneur J; Ellwanger K; Derks R; Weiss M; den Ouden A; van den Heuvel S; Swinkels H; Zomer N; Steehouwer M; O'Gorman L; Astuti G; Neveling K; Schüle R; Xu J; Synofzik M; Beijer D; Hengel H; Schöls L; Claeys KG; Baets J; Van de Vondel L; Ferlini A; Selvatici R; Morsy H; Saeed Abd Elmaksoud M; Straub V; Müller J; Pini V; Perry L; Sarkozy A; Zaharieva I; Muntoni F; Bugiardini E; Polavarapu K; Horvath R; Reid E; Lochmüller H; Spinazzi M; Savarese M; Matalonga L; Laurie S; Brunner HG; Graessner H; Beltran S; Ossowski S; Vissers LELM; Gilissen C; Hoischen A

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

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

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

D'Costa MS; Medicine, UCL, London, UK zchamdc@ucl.ac.uk.; Bugiardini E; Queen Square Centre for Neuromuscular Diseases, Queen Square UCL Institute of Neurology, London, UK.; Merve A; Neuropathology, Great Ormond Street Hospital for Children, London, UK.; Morrow JM; Queen Square Centre for Neuromuscular Diseases, Queen Square UCL Institute of Neurology, London, UK.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep 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; 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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