Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

by Feichtinger Rene' G, Zimmermann Franz, Mayr Johannes A, Neureiter Daniel, Hauser-Kronberger Cornelia, Schilling Freimut H, Jones Neil, Sperl Wolfgang, Kofler Barbara
Published 2010-04-01

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F₁F<su...

by Hansíková Hana, Tesařová Markéta, Piherová Lenka, Nosková Lenka, Hartmannová Hana, Ivánek Robert, Stránecký Viktor, Čížková Alena, Honzík Tomáš, Zeman Jiří, Divina Petr, Potocká Andrea, Paul Jan, Sperl Wolfgang, Mayr Johannes A, Seneca Sara, Houštĕk Josef, Kmoch Stanislav
Published 2008-01-01

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

by Kofler Barbara, Mueller Edith E, Eder Waltraud, Stanger Olaf, Maier Richard, Weger Martin, Haas Anton, Winker Robert, Schmut Otto, Paulweber Bernhard, Iglseder Bernhard, Renner Wilfried, Wiesbauer Martina, Aigner Irene, Santic Danijela, Zimmermann Franz A, Mayr Johannes A, Sperl Wolfgang
Published 2009-04-01

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

by Grünert Sarah C, Müllerleile Stephanie, De Silva Linda, Barth Michael, Walter Melanie, Walter Kerstin, Meissner Thomas, Lindner Martin, Ensenauer Regina, Santer René, Bodamer Olaf A, Baumgartner Matthias R, Brunner-Krainz Michaela, Karall Daniela, Haase Claudia, Knerr Ina, Marquardt Thorsten, Hennermann Julia B, Steinfeld Robert, Beblo Skadi, Koch Hans-Georg, Konstantopoulou Vassiliki, Scholl-Bürgi Sabine, van Teeffelen-Heithoff Agnes, Suormala Terttu, Sperl Wolfgang, Kraus Jan P, Superti-Furga Andrea, Schwab Karl Otfried, Sass Jörn Oliver
Published 2013-01-01

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

by Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert JM, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus FM, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Published 2018

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

by Alston, Charlotte L, Heidler, Juliana, Dibley, Marris G, Kremer, Laura S, Taylor, Lucie S, Fratter, Carl, French, Courtney E, Glasgow, Ruth IC, Feichtinger, René G, Delon, Isabelle, Pagnamenta, Alistair T, Dolling, Helen, Lemonde, Hugh, Aiton, Neil, Bjørnstad, Alf, Henneke, Lisa, Gärtner, Jutta, Thiele, Holger, Tauchmannova, Katerina, Quaghebeur, Gerardine, Houstek, Josef, Sperl, Wolfgang, Raymond, F Lucy, Prokisch, Holger, Mayr, Johannes A, McFarland, Robert, Poulton, Joanna, Ryan, Michael T, Wittig, Ilka, Henneke, Marco, Taylor, Robert W
Published 2019

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

by 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
Published 2017