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Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort Moreno, Cristiane Araujo Martins; Artilheiro, Mariana Cunha; Fonseca, Alulin Tacio Quadros Santos Monteiro; da Silva, Andre Macedo Serafim; Fernandes, Tatiana Ribeiro; Camelo, Clara Gontijo; Paiva, Michelle Abdo; di Pace, Filipe Tupinamba; Pessoa, Andre Luiz Santos; Braga, Vitor Lucas Lopes; Mariano, Tamiris Carneiro; de Paula Estephan, Eduardo; da Penha Morita, Maria; Covaleski, Anna Paula Paranhos Miranda; van der Linden, Vanessa; Tomaselli, Pedro Jose; Scarpellini, Giuliano Roberto; Gurgel-Giannetti, Juliana; Sobrinho, Livia Maria Ferreira; de Oliveira, Thais Martins; Mendonca, Rodrigo Holanda; Lucas, Elizabeth Lemos Silveira; Cruzeiro, Marcelo Maroco; Junior, Carlos Wagner Pereira; Junior, Wilson Marques; Sobreira, Claudia Ferreira da Rosa; Oliveira, Acary Sousa Bulle; Kok, Fernando; Hirano, Michio; Nascimento-Osorio, Andres; Schlesinger, David; Zanoteli, Edmar Share Save
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelango Share Save
A platform to map the mind-mitochondria connection and the hallmarks of psychobiology: the MiSBIE study Kelly, Catherine; Trumpff, Caroline; Acosta, Carlos; Assuras, Stephanie; Baker, Jack; Basarrate, Sophia; Behnke, Alexander; Bo, Ke; Bobba-Alves, Natalia; Champagne, Frances A.; Conklin, Quinn; Cross, Marissa; De Jager, Philip; Engelstad, Kris; Epel, Elissa; Franklin, Soah G.; Hirano, Michio; Huang, Qiuhan; Junker, Alex; Juster, Robert-Paul; Kapri, Darshana; Kirschbaum, Clemens; Kurade, Mangesh; Lauriola, Vincenzo; Li, Shufang; Liu, Cynthia C.; Liu, Grace; McEwen, Bruce; McGill, Marlon A.; Mcintyre, Kathleen; Monzel, Anna S.; Michelson, Jeremy; Prather, Aric A.; Puterman, Eli; Rosales, Xiomara Q.; Shapiro, Peter A.; Shire, David; Slavich, George M.; Sloan, Richard P.; Smith, Janell L. M.; Spann, Marisa; Spicer, Julie; Sturm, Gabriel; Tepler, Sophia; de Schotten, Michel Thiebaut; Wager, Tor D.; Picard, Martin Share Save
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease Hidalgo-Gutierrez, Agustin; Shintaku, Jonathan; Ramon, Javier; Barriocanal-Casado, Eliana; Pesini, Alba; Saneto, Russell P.; Garrabou, Gloria; Milisenda, Jose Cesar; Matas-Garcia, Ana; Gort, Laura; Ugarteburu, Olatz; Gu, Yue; Koganti, Lahari; Wang, Tian; Tadesse, Saba; Meneri, Megi; Sciacco, Monica; Wang, Shuang; Tanji, Kurenai; Horwitz, Marshall S.; Dorschner, Michael O.; Mansukhani, Mahesh; Comi, Giacomo Pietro; Ronchi, Dario; Marti, Ramon; Ribes, Antonia; Tort, Frederic; Hirano, Michio Share Save
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina Share Save
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Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging Bobba-Alves, Natalia; Sturm, Gabriel; Lin, Jue; Ware, Sarah A.; Karan, Kalpita R.; Monzel, Anna S.; Bris, Celine; Procaccio, Vincent; Lenaers, Guy; Higgins-Chen, Albert; Levine, Morgan; Horvath, Steve; Santhanam, Balaji S.; Kaufman, Brett A.; Hirano, Michio; Epel, Elissa; Picard, Martin Share Save
The evolution of the mitochondrial disease diagnostic odyssey (vol 18, 157, 2023) Thompson, John L. P.; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M.; Buchsbaum, Richard; Rosales, Xiomara Q.; Hirano, Michio Share Save
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A.; Mancuso, Michelango Share Save
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The evolution of the mitochondrial disease diagnostic odyssey Thompson, John L. P.; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M.; Buchsbaum, Richard; Rosales, Xiomara Q.; Hirano, Michio Share Save
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