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pro vyhledávání: '"Van Bergen NJ"'
Publikováno v:
Eye and Brain, Vol 2011, Iss default, Pp 29-47 (2011)
Nicole J Van Bergen, Rahul Chakrabarti, Evelyn C O'Neill, Jonathan G Crowston, Ian A TrounceCentre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Victoria, AustraliaAbstract: The clinical significance of disturbed m
Externí odkaz:
https://doaj.org/article/ec40fbbe4d0048c5a22ed9774e67fe60
Autor:
Gnaiger, E., Aasander Frostner, E., Abdul Karim, N., Abumrad, NA., Acuna-Castroviejo, D., Adiele, RC., Ahn, B., Ali, SS., Alton, L., Alves, MG., Amati, F., Amoedo, ND., Andreadou, I., Arago, M., Aral, C., Arandarcikaite, O., Armand, AS., Arnould, T., Avram, VF., Bailey, DM., Bajpeyi, S., Bajzikova, M., Bakker, BM., Barlow, J., Bastos Sant'Anna Silva, AC., Batterson, P., Battino, M., Bazil, J., Beard, DA., Bednarczyk, P., Bello, F., Ben-Shachar, D., Bergdahl, A., Berge, RK., Bergmeister, L., Bernardi, P., Berridge, MV., Bettinazzi, S., Bishop, D., Blier, PU., Blindheim, DF., Boardman, NT., Boetker, HE., Borchard, S., Boros, M., Borsheim, E., Borutaite, V., Botella, J., Bouillaud, F., Bouitbir, J., Boushel, RC., Bovard, J., Breton, S., Brown, DA., Brown, GC., Brown, RA., Brozinick, JT., Buettner, GR., Burtscher, J., Calabria, E., Calbet, JA., Calzia, E., Cannon, DT., Cano Sanchez, M., Canto, AC., Cardoso, LHD., Carvalho, E., Casado Pinna, M., Cassar, S., Cassina, AM., Castelo, MP., Castro, L., Cavalcanti-de-Albuquerque, JP., Cervinkova, Z., Chabi, B., Chakrabarti, L., Chakrabarti, S., Chaurasia, B., Chen, Q., Chicco, AJ., Chinopoulos, C., Chowdhury, SK., Cizmarova, B., Clementi, E., Coen, PM., Cohen, BH., Coker, RH., Collin, A., Crisostomo, L., Dahdah, N., Dalgaard, LT., Dambrova, M., Danhelovska, T., Darveau, CA., Das, AM., Dash, RK., Davidova, E., Davis, MS., De Goede, P., De Palma, C., Dembinska-Kiec, A., Detraux, D., Devaux, Y., Di Marcello, M., Dias, TR., Distefano, G., Doermann, N., Doerrier, C., Dong, L., Donnelly, C., Drahota, Z., Duarte, FV., Dubouchaud, H., Duchen, MR., Dumas, JF., Durham, WJ., Dymkowska, D., Dyrstad, SE., Dyson, A., Dzialowski, EM., Eaton, S., Ehinger, J., Elmer, E., Endlicher, R., Engin, AB., Escames, G., Ezrova, Z., Falk, MJ., Fell, DA., Ferdinandy, P., Ferko, M., Ferreira, JCB., Ferreira, R., Ferri, A., Fessel, JP., Filipovska, A., Fisar, Z., Fischer, C., Fischer, M., Fisher, G., Fisher, JJ., Ford, E., Fornaro, M., Galina, A., Galkin, A., Gallee, L., Galli, GL., Gama Perez, P., Gan, Z., Ganetzky, R., Garcia-Rivas, G., Garcia-Roves, PM., Garcia-Souza, LF., Garipi, E., Garlid, KD., Garrabou, G., Garten, A., Gastaldelli, A., Gayen, J., Genders, AJ., Genova, ML., Giovarelli, M., Goncalo Teixeira da Silva, R., Goncalves, DF., Gonzalez-Armenta, JL., Gonzalez-Freire, M., Gonzalo, H., Goodpaster, BH., Gorr, TA., Gourlay, CW., Granata, C., Grefte, S., Guarch, ME., Gueguen, N., Gumeni, S., Haas, CB., Haavik, J., Haendeler, J., Haider, M., Hamann, A., Han, J., Han, WH., Hancock, CR., Hand, SC., Handl, J., Hargreaves, IP., Harper, ME., Harrison, DK., Hassan, H., Hausenloy, DJ., Heales, SJR., Heiestad, C., Hellgren, KT., Hepple, RT., Hernansanz-Agustin, P., Hewakapuge, S., Hickey, AJ., Ho, DH., Hoehn, KL., Hoel, F., Holland, OJ., Holloway, GP., Hoppel, CL., Hoppel, F., Houstek, J., Huete-Ortega, M., Hyrossova, P., Iglesias-Gonzalez, J., Irving, BA., Isola, R., Iyer, S., Jackson, CB., Jadiya, P., Jana, PF., Jang, DH., Jang, YC., Janowska, J., Jansen, K., Jansen-Duerr, P., Jansone, B., Jarmuszkiewicz, W., Jaskiewicz, A., Jedlicka, J., Jespersen, NR., Jha, RK., Jurczak, MJ., Jurk, D., Kaambre, T., Kaczor, JJ., Kainulainen, H., Kampa, RP., Kandel, SM., Kane, DA., Kapferer, W., Kappler, L., Karabatsiakis, A., Karavaeva, I., Karkucinska-Wieckowska, A., Kaur, S., Keijer, J., Keller, MA., Keppner, G., Khamoui, AV., Kidere, D., Kilbaugh, T., Kim, HK., Kim, JKS., Klepinin, A., Klepinina, L., Klingenspor, M., Klocker, H., Komlodi, T., Koopman, WJH., Kopitar-Jerala, N., Kowaltowski, AJ., Kozlov, AV., Krajcova, A., Krako Jakovljevic, N., Kristal, BS., Krycer, JR., Kuang, J., Kucera, O., Kuka, J., Kwak, HB., Kwast, K., Laasmaa, M., Labieniec-Watala, M., Lagarrigue, S., Lai, N., Land, JM., Lane, N., Laner, V., Lanza, IR., Laranjinha, J., Larsen, TS., Lavery, GG., Lazou, A., Lee, HK., Leeuwenburgh, C., Lehti, M., Lemieux, H., Lenaz, G., Lerfall, J., Li, PA., Li Puma, L., Liepins, E., Liu, J., Lopez, LC., Lucchinetti, E., Ma, T., Macedo, MP., Maciej, S., MacMillan-Crow, LA., Majtnerova, P., Makarova, E., Makrecka-Kuka, M., Malik, AN., Markova, M., Martin, DS., Martins, AD., Martins, JD., Maseko, TE., Maull, F., Mazat, JP., McKenna, HT., McKenzie, M., Menze, MA., Merz, T., Meszaros, AT., Methner, A., Michalak, S., Moellering, DR., Moisoi, N., Molina, AJA., Montaigne, D., Moore, AL., Moreau, K., Moreira, BP., Moreno-Sanchez, R., Mracek, T., Muccini, AM., Munro, D., Muntane, J., Muntean, DM., Murray, AJ., Musiol, E., Nabben, M., Nair, KS., Nehlin, JO., Nemec, M., Neufer, PD., Neuzil, J., Neviere, R., Newsom, SA., Nozickova, K., O'Brien, KA., O'Gorman, D., Olgar, Y., Oliveira, B., Oliveira, MF., Oliveira, MT., Oliveira, PF., Oliveira, PJ., Orynbayeva, Z., Osiewacz, HD., Pak, YK., Pallotta, ML., Palmeira, CM., Parajuli, N., Passos, JF., Passrugger, M., Patel, HH., Pavlova, N., Pecina, P., Pedersen, TM., Pereira da Silva Grilo da Silva, F., Pereira, SP., Perez Valencia, JA., Perks, KL., Pesta, D., Petit, PX., Pettersen, IKN., Pichaud, N., Pichler, I., Piel, S., Pietka, TA., Pino, MF., Pirkmajer, S., Plangger, M., Porter, C., Porter, RK., Procaccio, V., Prochownik, EV., Prola, A., Pulinilkunnil, T., Puskarich, MA., Puurand, M., Radenkovic, F., Ramzan, R., Rattan, SIS., Reboredo, P., Renner-Sattler, K., Rial, E., Robinson, MM., Roden, M., Rodriguez, E., Rodriguez-Enriquez, S., Roesland, GV., Rohlena, J., Rolo, AP., Ropelle, ER., Rossignol, R., Rossiter, HB., Rubelj, I., Rybacka-Mossakowska, J., Saada, A., Safaei, Z., Saharnaz, S., Salin, K., Salvadego, D., Sandi, C., Saner, N., Sanz, A., Sazanov, LA., Scatena, R., Schartner, M., Scheibye-Knudsen, M., Schilling, JM., Schlattner, U., Schoenfeld, P., Schots, PC., Schulz, R., Schwarzer, C., Scott, GR., Selman, C., Shabalina, IG., Sharma, P., Sharma, V., Shevchuk, I., Shirazi, R., Shiroma, JG., Siewiera, K., Silber, AM., Silva, AM., Sims, CA., Singer, D., Singh, BK., Skolik, R., Smenes, BT., Smith, J., Soares, FAA., Sobotka, O., Sokolova, I., Sonkar, VK., Sowton, AP., Sparagna, GC., Sparks, LM., Spinazzi, M., Stankova, P., Starr, J., Stary, C., Stelfa, G., Stepto, NK., Stiban, J., Stier, A., Stocker, R., Storder, J., Sumbalova, Z., Suomalainen, A., Suravajhala, P., Svalbe, B., Swerdlow, RH., Swiniuch, D., Szabo, I., Szewczyk, A., Szibor, M., Tanaka, M., Tandler, B., Tarnopolsky, MA., Tausan, D., Tavernarakis, N., Tepp, K., Thakkar, H., Thapa, M., Thyfault, JP., Tomar, D., Ton, R., Torp, MK., Towheed, A., Tretter, L., Trewin, AJ., Trifunovic, A., Trivigno, C., Tronstad, KJ., Trougakos, IP., Truu, L., Tuncay, E., Turan, B., Tyrrell, DJ., Urban, T., Valentine, JM., Van Bergen, NJ., Van Hove, J., Varricchio, F., Vella, J., Vendelin, M., Vercesi, AE., Victor, VM., Vieira Ligo Teixeira, C., Vidimce, J., Viel, C., Vieyra, A., Vilks, K., Villena, JA., Vincent, V., Vinogradov, AD., Viscomi, C., Vitorino, RMP., Vogt, S., Volani, C., Volska, K., Votion, DM., Vujacic-Mirski, K., Wagner, BA., Ward, ML., Warnsmann, V., Wasserman, DH., Watala, C., Wei, YH., Whitfield, J., Wickert, A., Wieckowski, MR., Wiesner, RJ., Williams, CM., Winwood-Smith, H., Wohlgemuth, SE., Wohlwend, M., Wolff, JN., Wrutniak-Cabello, C., Wuest, RCI., Yokota, T., Zablocki, K., Zanon, A., Zanou, N., Zaugg, K., Zaugg, M., Zdrazilova, L., Zhang, Y., Zhang, YZ., Zikova, A., Zischka, H., Zorzano, A., Zvejniece, L.
As the knowledge base and importance of mitochondrial physiology to human health expands, the necessity for harmonizing the terminologyconcerning mitochondrial respiratory states and rates has become increasingly apparent. Thechemiosmotic theoryestab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1900::7d609d23663e6ca641ee25b090fc1c04
https://serval.unil.ch/notice/serval:BIB_8140284AD5C8
https://serval.unil.ch/notice/serval:BIB_8140284AD5C8
Autor:
Massey S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia., Ang CS; The Bio21 Institute of Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia., Davidson NM; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia.; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia., Quigley A; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia., Rollo B; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia., Harris AR; Department of Biomedical Engineering, University of Melbourne, Melbourne, 3010, Australia., Kapsa RMI; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia. N.van@unimelb.edu.au.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia. N.van@unimelb.edu.au.; Department of Paediatrics, University of Melbourne, c/o MCRI, 50 Flemington Road, Parkville, VIC, 3052, Australia. N.van@unimelb.edu.au.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Sep 10; Vol. 81 (1), pp. 392. Date of Electronic Publication: 2024 Sep 10.
Autor:
Massey S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia., Ang CS; The Bio21 Institute of Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, Australia., Davidson NM; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia.; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia., Quigley A; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia., Rollo B; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia., Harris AR; Department of Biomedical Engineering, University of Melbourne, Melbourne, 3010, Australia., Kapsa RMI; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC, 3065, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC, 3052, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, 3052, Australia. N.van@unimelb.edu.au.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, 3052, Australia. N.van@unimelb.edu.au.; Department of Paediatrics, University of Melbourne, c/o MCRI, 50 Flemington Road, Parkville, VIC, 3052, Australia. N.van@unimelb.edu.au.
Publikováno v:
Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Aug 13; Vol. 81 (1), pp. 347. Date of Electronic Publication: 2024 Aug 13.
Autor:
Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia., Lall P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia., Ayres S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia., Van Bergen NJ; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Australia., Christodoulou J; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia.; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Australia., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia., Kalitsis P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Parkville, Australia.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Feb; Vol. 105 (2), pp. 214-219. Date of Electronic Publication: 2023 Oct 29.
Autor:
Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia., Bouffler SE; Australian Genomics, Melbourne, Victoria, Australia., Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Sandaradura SA; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Wilson M; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Pinner J; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia.; Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Hunter MF; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, Tasmania, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia., Kamien B; Genetic Services of Western Australia, Perth, Western Australia, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Canberra, Australian Capital Territory, Australia., Chong B; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Phelan D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Ha T; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Gao S; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Arts P; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Jackson MR; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Scott HS; Australian Genomics, Melbourne, Victoria, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.; Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia., Eggers S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rowley S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Boggs K; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia., Rakonjac A; Australian Genomics, Melbourne, Victoria, Australia.; Sydney Children's Hospitals Network - Westmead, Sydney, New South Wales, Australia.; Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia., Brett GR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., de Silva MG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Springer A; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Ward M; Genetic Services of Western Australia, Perth, Western Australia, Australia., Stallard K; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Simons C; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Conway T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Halman A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Van Bergen NJ; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sikora T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Semcesen LN; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia., Stroud DA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Bell KM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sadedin S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., North KN; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Christodoulou J; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia.; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.; Australian Genomics, Melbourne, Victoria, Australia. zornitza.stark@vcgs.org.au.
Publikováno v:
Nature medicine [Nat Med] 2023 Jul; Vol. 29 (7), pp. 1681-1691. Date of Electronic Publication: 2023 Jun 08.
Autor:
Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3002, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3002, Australia., Gunanayagam K; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Bournazos AM; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, Sydney, NSW 2145, Australia., Walvekar AS; Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367 Belvaux, Luxembourg., Warmoes MO; Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367 Belvaux, Luxembourg., Semcesen LN; Department of Biochemistry & Pharmacology, Bio21 Molecular Science & Biotechnology Institute, University of Melbourne, Melbourne, VIC 3002, Australia., Lunke S; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3002, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3002, Australia., Bommireddipalli S; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, Sydney, NSW 2145, Australia., Sikora T; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3002, Australia., Patraskaki M; Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367 Belvaux, Luxembourg., Jones DL; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia.; School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia., Garza D; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Sebire D; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Gooley S; Department of Neurology, Royal Hobart Hospital, Hobart, TAS 7000, Australia., McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, VIC 3002, Australia., Naidoo P; Department of Medical Imaging, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Rajasekaran M; Department of Medical Imaging, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Stroud DA; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3002, Australia.; Department of Biochemistry & Pharmacology, Bio21 Molecular Science & Biotechnology Institute, University of Melbourne, Melbourne, VIC 3002, Australia., Linster CL; Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, L-4367 Belvaux, Luxembourg., Wallis M; School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia.; Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, TAS 7000, Australia., Cooper ST; Kids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.; The Children's Medical Research Institute, 214 Hawkesbury Road, Westmead, Sydney, NSW 2145, Australia.; Discipline of Child and Adolescent Health, Faculty of Health and Medicine, University of Sydney, Sydney, NSW 2006, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3002, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3002, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3002, Australia.; Discipline of Child and Adolescent Health, Faculty of Health and Medicine, University of Sydney, Sydney, NSW 2006, Australia.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 10; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 10.
Autor:
Massey S; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Guo Y; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Riley LG; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Van Bergen NJ; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Sandaradura SA; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., McCusker E; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Tchan M; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Thauvin-Robinet C; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Thomas Q; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Moreau T; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Davis M; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Smits D; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Mancini GMS; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Hakonarson H; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Cooper S; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands., Christodoulou J; Brain and Mitochondrial Research Group (S.M., N.J.V.B., J.C.), Murdoch Children's Research Institute, Melbourne, VIC, Australia; Centre for Applied Genomics (Y.G., H.H.), Children's Hospital of Philadelphia, PA; Centre for Data Driven Discovery in Biomedicine (Y.G.), Children's Hospital of Philadelphia, PA; Rare Diseases Functional Genomics (L.G.R., S.C.), Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Sydney, NSW, Australia; Specialty of Child and Adolescent Health (L.G.R., S.C.), University of Sydney, NSW, Australia; Department of Paediatrics (N.J.V.B., J.C.), University of Melbourne, VIC, Australia; Department of Paediatrics and Child Health (S.A.S.), University of Sydney, NSW, Australia; Department of Clinical Genetics (S.A.S.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Genetic Medicine (M.T.), Westmead Hospital, Sydney, NSW, Australia; Department of Neurology (E.M.), Westmead Hospital, Sydney (NSW), Australia; Laboratory of Diagnostic Innovation in Rare Diseases (C.T.-R.), CHU Dijon Bourgogne, France; Genetics Center (C.T.-R.), CHU Dijon Bourgogne, France; Neurology (Q.T., T.M.), CHU Dijon Bourgogne, France; Diagnostics Genomics (M.D.), PathWest Laboratory Medicine, Perth, WA, Australia; and Department of Clinical Genetics (D.S., G.M.S.M.), ErasmusMC University Medical Center, Rotterdam, ZH, the Netherlands.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2023 Jan 23; Vol. 9 (1), pp. e200051. Date of Electronic Publication: 2023 Jan 23 (Print Publication: 2023).
Autor:
Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Walvekar AS; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Patraskaki M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Sikora T; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., Linster CL; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1028-1038. Date of Electronic Publication: 2022 Aug 07.
Autor:
Van Bergen NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Massey S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia., Quigley A; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, VIC 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC 3065, Australia.; Aikenhead Centre for Medical Discovery, Department of Biomedical Engineering, University of Melbourne, Melbourne 3010, Australia., Rollo B; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Australia., Harris AR; Aikenhead Centre for Medical Discovery, Department of Biomedical Engineering, University of Melbourne, Melbourne 3010, Australia., Kapsa RMI; Electrical and Biomedical Engineering, School of Engineering, RMIT University, Melbourne, VIC, Australia.; Aikenhead Centre for Medical Discovery, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC 3065, Australia.; Centre for Clinical Neurosciences and Neurological Research, St. Vincent's Hospital Melbourne, Fitzroy, VIC 3065, Australia.; Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Fitzroy, Melbourne, VIC 3065, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Discipline of Child and Adolescent Health, University of Sydney, Sydney, Australia.
Publikováno v:
Biochemical Society transactions [Biochem Soc Trans] 2022 Aug 31; Vol. 50 (4), pp. 1207-1224.