A Brief History of Mitochondrial Pathologies

por DiMauro, Salvatore
Publicado 2019

Human Coenzyme Q(10) Deficiency

por Quinzii, Catarina M., DiMauro, Salvatore, Hirano, Michio
Publicado 2006

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias

por Barca, Emanuele, Emmanuele, Valentina, DiMauro, Salvatore, Toscano, Antonio, Quinzii, Catarina M.
Publicado 2019

Mitochondrial disease heterogeneity: a prognostic challenge

por Moggio, Maurizio, Colombo, Irene, Peverelli, Lorenzo, Villa, Luisa, Xhani, Rubjona, Testolin, Silvia, Di Mauro, Salvatore, Sciacco, Monica
Publicado 2014

Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

por López, Luis C., Quinzii, Catarina M., Area, Estela, Naini, Ali, Rahman, Shamima, Schuelke, Markus, Salviati, Leonardo, DiMauro, Salvatore, Hirano, Michio
Publicado 2010

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

por Thomas-Wilson, Amanda, Dharmadhikari, Avinash V., Heymann, Jonas J., Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B., Ganapathi, Mythily
Publicado 2022

A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck

por Pallotti, Francesco, Binelli, Giorgio, Fabbri, Raffaella, Valentino, Maria L., Vicenti, Rossella, Macciocca, Maria, Cevoli, Sabina, Baruzzi, Agostino, DiMauro, Salvatore, Carelli, Valerio
Publicado 2014

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children

por Kurt, Yasemin Gulcan, Çoku, Jorida, Akman, H. Orhan, Naini, Ali, Lu, Jesheng, Engelstad, Kristin, Hirano, Michio, De Vivo, Darryl C., DiMauro, Salvatore
Publicado 2016

Visual memory failure presages conversion to MELAS phenotype

por Leaffer, Emily B., De Vivo, Darryl C., Engelstad, Kristin, Fryer, Robert H., Gu, Yian, Shungu, Dikoma C., Hirano, Michio, DiMauro, Salvatore, Hinton, Veronica J.
Publicado 2022

The North American mitochondrial disease registry

por Rosales, Xiomara Q., Thompson, John L. P., Haas, Richard, Van Hove, Johan L. K., Karaa, Amel, Krotoski, Danuta, Engelstad, Kristin, Buchsbaum, Richard, DiMauro, Salvatore, Hirano, Michio
Publicado 2020

Survival transcriptome in the coenzyme Q(10) deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q(10) deficiencies

por Fernández-Ayala, Daniel J M, Guerra, Ignacio, Jiménez-Gancedo, Sandra, Cascajo, Maria V, Gavilán, Angela, DiMauro, Salvatore, Hirano, Michio, Briones, Paz, Artuch, Rafael, De Cabo, Rafael, Salviati, Leonardo, Navas, Plácido
Publicado 2013

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

por Taniguchi-Ikeda, Mariko, Kobayashi, Kazuhiro, Kanagawa, Motoi, Yu, Chih-chieh, Mori, Kouhei, Oda, Tetsuya, Kuga, Atsushi, Kurahashi, Hiroki, Akman, Hasan O., DiMauro, Salvatore, Kaji, Ryuji, Yokota, Toshifumi, Takeda, Shin’ichi, Toda, Tatsushi
Publicado 2011

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

por Casarin, Alberto, Giorgi, Gianpietro, Pertegato, Vanessa, Siviero, Roberta, Cerqua, Cristina, Doimo, Mara, Basso, Giuseppe, Sacconi, Sabrina, Cassina, Matteo, Rizzuto, Rosario, Brosel, Sonja, M Davidson, Mercy, DiMauro, Salvatore, Schon, Eric A, Clementi, Maurizio, Trevisson, Eva, Salviati, Leonardo
Publicado 2012

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

por 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
Publicado 2017

Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy

por Vernau, Karen M., Runstadler, Jonathan A., Brown, Emily A., Cameron, Jessie M., Huson, Heather J., Higgins, Robert J., Ackerley, Cameron, Sturges, Beverly K., Dickinson, Peter J., Puschner, Birgit, Giulivi, Cecilia, Shelton, G. Diane, Robinson, Brian H., DiMauro, Salvatore, Bollen, Andrew W., Bannasch, Danika L.
Publicado 2013

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

por Neeve, Vivienne C. M., Samuels, David C., Bindoff, Laurence A., van den Bosch, Bianca, Van Goethem, Gert, Smeets, Hubert, Lombès, Anne, Jardel, Claude, Hirano, Michio, DiMauro, Salvatore, De Vries, Maaike, Smeitink, Jan, Smits, Bart W., de Coo, Ireneus F. M., Saft, Carsten, Klopstock, Thomas, Keiling, Bianca-Cortina, Czermin, Birgit, Abicht, Angela, Lochmüller, Hanns, Hudson, Gavin, Gorman, Grainne G., Turnbull, Doug M., Taylor, Robert W., Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Publicado 2012

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publicado 2009

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

por 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, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita
Publicado 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

por 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
Publicado 2020

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

por Feichtinger, René G., Oláhová, 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
Publicado 2017