Not logged in Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC) Emmanuele, Valentina; Ganesh, Jaya; Vladutiu, Georgirene; Haas, Richard; Kerr, Douglas; Saneto, Russell P.; Cohen, Bruce H.; Van Hove, Johan L. K.; Scaglia, Fernando; Hoppel, Charles; Rosales, Xiomara Q.; Barca, Emanuele; Buchsbaumm, Richard; Thompson, John L.; DiMauro, Salvatore; Hirano, Michio Share Save
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Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J.; Giunta, Michele; Powell, Christopher; Pearce, Sarah F.; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez-Duran, Aurora; Schara, Ulrike; Pitceathly, Robert D. S.; Hanna, Michael G.; Joost, Kairit; Cotta, Ana; Paim, Julia Filardi; Navarro, Monica Machado; Duff, Jennifer; Mattmann, Andre; Chapman, Kristine; Servidei, Serenella; Della Marina, Adela; Uusimaa, Johanna; Roos, Andreas; Mootha, Vamsi; Hirano, Michio; Tulinius, Mar; Giri, Manta; Hoffmann, Eric P.; Lochmuller, Hanns; DiMauro, Salvatore; Minczuk, Michal; Chinnery, Patrick F.; Muller, Juliane S.; Horvath, Rita Share Save
Mitochondrial diseases in North America: An analysis of the NAMDC Registry Barca, Emanuele; Long, Yuelin; Cooley, Victoria; Schoenaker, Robert; Emmanuele, Valentina; DiMauro, Salvatore; Cohen, Bruce H.; Karaa, Amel; Vladutiu, Georgirene D.; Haas, Richard; Van Hove, Johan L. K.; Scaglia, Fernando; Parikh, Sumit; Bedoyan, Jirair K.; DeBrosse, Susanne D.; Gavrilova, Ralitza H.; Saneto, Russell P.; Enns, Gregory M.; Stacpoole, Peter W.; Ganesh, Jaya; Larson, Austin; Zolkipli-Cunningham, Zarazuela; Falk, Marni J.; Goldstein, Amy C.; Tarnopolsky, Mark; Gropman, Andrea; Camp, Kathryn; Krotoski, Danuta; Engelstad, Kristin; Rosales, Xiomara Q.; Kriger, Joshua; Grier, Johnston; Buchsbaum, Richard; Thompson, John L. P.; Hirano, Michio Share Save
Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing Souza, P. V. S.; Bortholin, Thiago; Castro Teixeira, Carlos Alberto; Seneor, Daniel Delgado; Barrios Marin, Vitor Dias Gomes; Dias, Renan Braido; Farias, Igor Braga; Badia, B. M. L.; Libardi Silva, Luiz Henrique; Pinto, W. B. V. R.; Bulle Oliveira, Acary Souza; DiMauro, Salvatore Share Save
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia Manoli, Irini; Sysol, Justin R.; Epping, Madeline W.; Li, Lina; Wang, Cindy; Sloan, Jennifer L.; Pass, Alexandra; Gagne, Jack; Ktena, Yiouli P.; Li, Lingli; Trivedi, Niraj S.; Ouattara, Bazoumana; Zerfas, Patricia M.; Hoffmann, Victoria; Abu-Asab, Mones; Tsokos, Maria G.; Kleiner, David E.; Garone, Caterina; Cusmano-Ozog, Kristina; Enns, Gregory M.; Vernon, Hilary J.; Andersson, Hans C.; Grunewald, Stephanie; Elkahloun, Abdel G.; Girard, H Christiane L.; Schnermann, Jurgen; Dimauro, Salvatore; Andres-Mateos, Eva; Vandenberghe, Luk H.; Chandler, Randy J.; Venditti, Charles P. Share Save
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Retrospective natural history of thymidine kinase 2 deficiency Garone, Caterina; Taylor, Robert W.; Nascimento, Andres; Poulton, Joanna; Fratter, Carl; Dominguez-Gonzalez, Cristina; Evans, Julie C.; Loos, Mariana; Isohanni, Pirjo; Suomalainen, Anu; Ram, Dipak; Hughes, M. Imelda; McFarland, Robert; Barca, Emanuele; Gomez, Carlos Lopez; Jayawant, Sandeep; Thomas, Neil D.; Manzur, Adnan Y.; Kleinsteuber, Karin; Martin, Miguel A.; Kerr, Timothy; Gorman, Grainne S.; Sommerville, Ewen W.; Chinnery, Patrick F.; Hofer, Monika; Karch, Christoph; Ralph, Jeffrey; Camara, Yolanda; Madruga-Garrido, Marcos; Dominguez-Carral, Jana; Ortez, Carlos; Emperador, Sonia; Montoya, Julio; Chakrapani, Anupam; Kriger, Joshua F.; Schoenaker, Robert; Levin, Bruce; Thompson, John L. P.; Long, Yuelin; Rahman, Shamima; Donati, Maria Alice; DiMauro, Salvatore; Hirano, Michio Share Save
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies Feichtinger, Rene G.; Olahova, Monika; Kishita, Yoshihito; Garone, Caterina; Kremer, Laura S.; Yagi, Mikako; Uchiumi, Takeshi; Jourdain, Alexis A.; Thompson, Kyle; D'Souza, Aaron R.; Kopajtich, Robert; Alston, Charlotte L.; Koch, Johannes; Sperl, Wolfgang; Mastantuono, Elisa; Strom, Tim M.; Wortmann, Saskia B.; Meitinger, Thomas; Pierre, Germaine; Chinnery, Patrick F.; Chrzanowska-Lightowlers, Zofia M.; Lightowlers, Robert N.; DiMauro, Salvatore; Calvo, Sarah E.; Mootha, Vamsi K.; Moggio, Maurizio; Sciacco, Monica; Comi, Giacomo P.; Ronchi, Dario; Murayama, Kei; Ohtake, Akira; Rebelo-Guiomar, Pedro; Kohda, Masakazu; Kang, Dongchon; Mayr, Johannes A.; Taylor, Robert W.; Okazaki, Yasushi; Minczuk, Michal; Prokisch, Holger Share Save
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome Garone, Caterina; D'Souza, Aaron R.; Dallabona, Cristina; Lodi, Tiziana; Rebelo-Guiomar, Pedro; Rorbach, Joanna; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah E.; Mootha, Vamsi K.; DiMauro, Salvatore; Ferrero, Ileana; Minczuk, Michal Share Save
Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation Tarasenko, Tatyana N.; Pacheco, Susan E.; Koenig, Mary Kay; Gomez-Rodriguez, Julio; Kapnick, Senta M.; Diaz, Francisca; Zerfas, Patricia M.; Barca, Emanuele; Sudderth, Jessica; DeBerardinis, Ralph J.; Covian, Raul; Balaban, Robert S.; DiMauro, Salvatore; McGuire, Peter J. Share Save
Mitochondrial diseases Gorman, Grainne S.; Chinnery, Patrick F.; DiMauro, Salvatore; Hirano, Michio; Koga, Yasutoshi; McFarland, Robert; Suomalainen, Anu; Thorburn, David R.; Zeviani, Massimo; Turnbull, Douglass M. Share Save
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Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy Engelstad, Kristin; Sklerov, Miriam; Kriger, Joshua; Sanford, Alexandra; Grier, Johnston; Ash, Daniel; Egli, Dieter; DiMauro, Salvatore; Thompson, John L. P.; Sauer, Mark V.; Hirano, Michio Share Save
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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Parikh, Sumit; Goldstein, Amy; Koenig, Mary Kay; Scaglia, Fernando; Enns, Gregory M.; Saneto, Russell; Anselm, Irina; Cohen, Bruce H.; Falk, Marni J.; Greene, Carol; Gropman, Andrea L.; Haas, Richard; Hirano, Michio; Morgan, Phil; Sims, Katherine; Tarnopolsky, Mark; Van Hove, Johan L. K.; Wolfe, Lynne; DiMauro, Salvatore Share Save
A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency Malfatti, Edoardo; Nilsson, Johanna; Hedberg-Oldfors, Carola; Hernandez-Lain, Aurelio; Michel, Fabrice; Dominguez-Gonzalez, Cristina; Viennet, Gabriel; Akman, H. Orhan; Kornblum, Cornelia; Van den Bergh, Peter; Romero, Norma B.; Engel, Andrew G.; DiMauro, Salvatore; Oldfors, Anders Share Save
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration Bit-Ivan, E. N.; Lee, K. -H.; Gitelman, D.; Weintraub, S.; Mesulam, M.; Rademakers, R.; Isaacs, A. M.; Hatanpaa, K. J.; White, C. L., III; Mao, Q.; Akman, O.; DiMauro, S.; Bigio, E. H. Share Save
TMEM14C is required for erythroid mitochondrial heme metabolism Yien, Yvette Y.; Robledo, Raymond F.; Schultz, Iman J.; Takahashi-Makise, Naoko; Gwynn, Babette; Bauer, Daniel E.; Dass, Abhishek; Yi, Gloria; Li, Liangtao; Hildick-Smith, Gordon J.; Cooney, Jeffrey D.; Pierce, Eric L.; Mohler, Kyla; Dailey, Tamara A.; Miyata, Non; Kingsley, Paul D.; Garone, Caterina; Hattangadi, Shilpa M.; Huang, Hui; Chen, Wen; Keenan, Ellen M.; Shah, Dhvanit I.; Schlaeger, Thorsten M.; DiMauro, Salvatore; Orkin, Stuart H.; Cantor, Alan B.; Palis, James; Koehler, Carla M.; Lodish, Harvey F.; Kaplan, Jerry; Ward, Diane M.; Dailey, Harry A.; Phillips, John D.; Peters, Luanne L.; Paw, Barry H. Share Save
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