檢索結果 - Lavinija Mataković
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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy 由 Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković, René G. Feichtinger, Eliška Koňaříková, Elżbieta Jurkiewicz, Piotr Stawiński, Mirjana Gušić, Andreas Koller, Agnieszka Pollak, Piotr Gasperowicz, Joanna Trubicka, Elżbieta Ciara, Katarzyna Iwanicka‐Pronicka, Dariusz Rokicki, Sylvain Hanein, Saskia B. Wortmann, Wolfgang Sperl, Agnès Rötig, Holger Prokisch, Ewa Pronicka, Rafał Płoski, Giulia Barcia, Johannes A. Mayr
出版 2018Artigo -
2
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 由 Hannah Kennedy, Tobias B. Haack, Verity Hartill, Lavinija Mataković, E. R. Baumgartner, Howard Potter, Richard Mackay, Charlotte L. Alston, Siobhán O’Sullivan, Robert McFarland, Grainne Connolly, Caroline Gannon, Richard King, Scott Mead, Ian Crozier, Wandy Chan, Chris Florkowski, Martin Sage, Thomas Höfken, Bader Alhaddad, Laura S. Kremer, Robert Kopajtich, René G. Feichtinger, Wolfgang Sperl, Richard J. Rodenburg, Jean Claude Minet, Angus Dobbie, Tim M. Strom, Thomas Meitinger, Peter M. George, Colin A. Johnson, Robert W. Taylor, Holger Prokisch, Kit Doudney, Johannes A. Mayr
出版 2016Artigo -
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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 由 Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Mataković, Alice Veauville‐Merllié, Caterina Terrile, Thomas Schwarzmayr, Tobias B. Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Ríos, Johan Palmfeldt, Elisabeth Graf, Christine Vianey‐Saban, Marcus Oppenheim, Manuel Schiff, Samia Pichard, Odile Rigal, Angela Pyle, Patrick F. Chinnery, Vassiliki Konstantopoulou, Dorothea Möslinger, René G. Feichtinger, Beril Talim, Haluk Topaloğlu, Turgay Coşkun, Şafak Güçer, Annalisa Botta, Elena Pegoraro, Adriana Malena, Lodovica Vergani, Daniela Mazzà, Marcella Zollino, Daniele Ghezzi, Cécile Acquaviva, Tiina Tyni, Avihu Boneh, Thomas Meitinger, Tim M. Strom, Niels Gregersen, Johannes A. Mayr, Rita Horváth, Maria Barile, Holger Prokisch
出版 2016Artigo
相關主題
Biology
Endocrinology
Gene
Genetics
Lactic acidosis
Mitochondrial DNA
Mitochondrial disease
Mitochondrial respiratory chain
Mitochondrion
Mutation
Respiratory chain
ATP synthase
Acyl CoA dehydrogenase
Acyl-CoA
Biochemistry
Cardiomyopathy
Chemistry
Dehydrogenase
Enzyme
Exome sequencing
Heart failure
Hypotonia
Internal medicine
Leigh disease
Medicine
Missense mutation
Mitochondrial Encephalomyopathies
Mitochondrial encephalomyopathy
Mitochondrial myopathy
Riboflavin