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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesFeichtinger, 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, HolgerAmerican journal of human genetics, 2017-10, Vol.101 (4), p.525-538 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyKopajtich, Robert ; Murayama, Kei ; Janecke, Andreas R. ; Haack, Tobias B. ; Breuer, Maximilian ; Knisely, A.S. ; Harting, Inga ; Ohashi, Toya ; Okazaki, Yasushi ; Watanabe, Daisaku ; Tokuzawa, Yoshimi ; Kotzaeridou, Urania ; Kölker, Stefan ; Sauer, Sven ; Carl, Matthias ; Straub, Simon ; Entenmann, Andreas ; Gizewski, Elke ; Feichtinger, René G. ; Mayr, Johannes A. ; Lackner, Karoline ; Strom, Tim M. ; Meitinger, Thomas ; Müller, Thomas ; Ohtake, Akira ; Hoffmann, Georg F. ; Prokisch, Holger ; Staufner, ChristianAmerican journal of human genetics, 2016-08, Vol.99 (2), p.414-422 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |