A Brief History of Mitochondrial Pathologies von DiMauro, Salvatore

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Mitochondrial Disorders in the Nervous System von DIMAURO, Salvatore, SCHON, Eric A

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society von 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

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A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases von DiMauro, Salvatore, Rustin, Pierre

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Mitochondrial abnormalities in temporal lobe of autistic brain von Tang, Guomei, Gutierrez Rios, Puri, Kuo, Sheng-Han, Akman, Hasan Orhan, Rosoklija, Gorazd, Tanji, Kurenai, Dwork, Andrew, Schon, Eric A, DiMauro, Salvatore, Goldman, James, Sulzer, David

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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 von Nilsson, Johanna, Schoser, Benedikt, Laforet, Pascal, Kalev, Ognian, Lindberg, Christopher, Romero, Norma B., Dávila López, Marcela, Akman, Hasan O., Wahbi, Karim, Iglseder, Stephan, Eggers, Christian, Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders

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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease von Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B, Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas, Sciacco, Monica, Ronchi, Dario, Comi, Giacomo P, Moggio, Maurizio, Quinzii, Catarina M, DiMauro, Salvatore, Calvo, Sarah E, Mootha, Vamsi K, Klopstock, Thomas, Strom, Tim M, Meitinger, Thomas, Minczuk, Michal, Kunz, Wolfram S, Prokisch, Holger

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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome von 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

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

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Metabolic Myoglobinuria von Barca, Emanuele, Emmanuele, Valentina, DiMauro, Salvatore (Billi)

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A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency von QUINZII, Catarina, NAINI, Ali, SALVIATI, Leonardo, TREVISSON, Eva, NAVAS, Placido, DIMAURO, Salvatore, HIRANO, Michio

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GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes von Souza, Paulo Victor Sgobbi, Badia, Bruno Mattos Lombardi, Farias, Igor Braga, Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle, Akman, Hasan Orhan, DiMauro, Salvatore

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The genetics and pathology of oxidative phosphorylation von Smeitink, Jan, van den Heuvel, Lambert, DiMauro, Salvatore

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Mitochondrial diseases: therapeutic approaches von DiMauro, Salvatore, Mancuso, Michelangelo

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Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC) von 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, Buchsbaum, Richard, Thompson, John L., DiMauro, Salvatore, Hirano, Michio

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene von Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita

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Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency von Vissing, John, Akman, H Orhan, Aasly, Jan, Kahler, Stephen G, Bacino, Carlos A, DiMauro, Salvatore, Haller, Ronald G

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Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers von Weiduschat, Nora, Kaufmann, Petra, Mao, Xiangling, Engelstad, Kristin Marie, Hinton, Veronica, DiMauro, Salvatore, De Vivo, Darryl, Shungu, Dikoma

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Early-onset familial parkinsonism due to POLG mutations von Davidzon, Guido, Greene, Paul, Mancuso, Michelangelo, Klos, Kevin J., Ahlskog, J. Eric, Hirano, Michio, DiMauro, Salvatore

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion von Marsano, René Massimiliano, Rötig, Agnes, Calvo, Sarah, Fernandez-Vizarra, Erika, Sarzi, Emmanuelle, Donnini, Claudia, Chan, Alicia, Carrara, Franco, Strisciuglio, Pietro, Spinazzola, Antonella, Viscomi, Carlo, D'Adamo, Pio, Parini, Rossella, DiMauro, Salvatore, Mootha, Vamsi K, Ferrero, Iliana, Tiranti, Valeria, Weiher, Hans, Gasparini, Paolo, Zeviani, Massimo

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