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Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish Bedell, Victoria M.; Dubey, Priya; Lee, Han B.; Bailey, Dondra S.; Anderson, Jennifer L.; Jamieson-Lucy, Allison; Xiao, Rui; Leonard, Elvin V.; Falk, Marni J.; Pack, Michael A.; Mullins, Mary; Farber, Steven A.; Eckenhoff, Roderic G.; Ekker, Stephen C. Share Save
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients Alves, CAPF; Rossi-Espagnet, MC; Perez, F; Manteghinejad, A; Peterson, JT; Ganetzky, R; Napolitano, A; Grassi, F; George-Sankoh, I; Yildiz, H; Muraresku, C; Falk, MJ; Martinelli, D; Longo, D; Vanderver, A; Gandolfo, C; Saneto, RP; Goldstein, A; Vossough, A Share Save
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease Wang, Jing; Peterson, James T.; Santos, Joaquim Diego D.; Chan, Ada J. S.; Diaz-Miranda, Maria Alejandra; Rahaman, Imon; Flickinger, Jean; Goldstein, Amy; Bogush, Emily; Mccormick, Elizabeth M.; Muraresku, Colleen C.; Anderson, Vernon E.; Dulik, Matthew C.; Wallace, Douglas C.; Xiao, Rui; Falk, Marni J.; Viaene, Angela N.; Zolkipli-Cunningham, Zarazuela Share Save
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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
dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine Lavorato, Manuela; Iadarola, Donna; Remes, Cristina; Kaur, Prabhjot; Broxton, Chynna; Mathew, Neal D.; Xiao, Rui; Seiler, Christoph; Nakamaru-Ogiso, Eiko; Anderson, Vernon E.; Falk, Marni J. Share Save
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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene A Clinical Report Lanvin, Pierre-Louis; Li, Dong; Conrad, Solene; Magot, Armelle; Micaelli, Xavier; Pereon, Yann; Vincent, Marie; Isidor, Bertrand; Sternberg, Damien; McCormick, Elizabeth M.; Hakonarson, Hakon; Mercier, Sandra; Falk, Marni J. Share Save
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine MacMullen, Laura E.; George-Sankoh, Ibrahim; Stanley, Katelynn; McCormick, Elizabeth M.; Muraresku, Colleen C.; Goldstein, Amy; Zolkipli-Cunningham, Zarazuela; Falk, Marni J. Share Save
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon Share Save
Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life Divito, Donna; Wellik, Amanda; Burfield, Jessica; Peterson, James; Flickinger, Jean; Tindall, Alyssa; Albanowski, Kimberly; Vishnubhatt, Shailee; Macmullen, Laura; Martin, Isaac; Muraresku, Colleen; Mccormick, Elizabeth; George-Sankoh, Ibrahim; Mccormack, Shana; Goldstein, Amy; Ganetzky, Rebecca; Yudkoff, Marc; Xiao, Rui; Falk, Marni; Mascarenhas, Maria; Zolkipli-Cunningham, Zarazuela 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
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations Alves, C. A. P. F.; Zandifar, A.; Peterson, J. T.; Tara, S. Z.; Ganetzky, R.; Viaene, A. N.; Andronikou, S.; Falk, M. J.; Vossough, A.; Goldstein, A. C. Share Save
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome Haroon, Suraiya; Yoon, Heeyong; Seiler, Christoph; Osei-Frimpong, Bruce; He, Jie; Nair, Rohini M.; Mathew, Neal D.; Burg, Leonard; Kose, Melis; Venkata, Chavali R. M.; Anderson, Vernon E.; Nakamaru-Ogiso, Eiko; Falk, Marni J. Share Save
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease Elander, Johanna; McCormick, Elizabeth M.; Varendh, Maria; Stenfeldt, Karin; Ganetzky, Rebecca D.; Goldstein, Amy; Zolkipli-Cunningham, Zarazuela; MacMullen, Laura E.; Xiao, Rui; Falk, Marni J.; Ehinger, Johannes K. Share Save
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