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Number of items: 5.

Thiels, Charlotte; Fleger, Martin; Huemer, Martina; Rodenburg, Richard J; Vaz, Frederic M; Houtkooper, Riekelt H; Haack, Tobias B; Prokisch, Holger; Feichtinger, René G; Lücke, Thomas; Mayr, Johannes A; Wortmann, Saskia B (2015). Atypical clinical presentations of TAZ mutations: an underdiagnosed cause of growth retardation? In: Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 89-93.

Ferriero, Rosa; Boutron, Audrey; Brivet, Michele; Kerr, Douglas; Morava, Eva; Rodenburg, Richard J; Bonafé, Luisa; Baumgartner, Matthias R; Anikster, Yair; Braverman, Nancy E; Brunetti-Pierri, Nicola (2014). Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. Annals of Clinical and Translational Neurology, 1(7):462-470.

Haack, Tobias B; Gorza, Matteo; Danhauser, Katharina; Mayr, Johannes A; Haberberger, Birgit; Wieland, Thomas; Kremer, Laura; Strecker, Valentina; Graf, Elisabeth; Memari, Yasin; Ahting, Uwe; Kopajtich, Robert; Wortmann, Saskia B; Rodenburg, Richard J; Kotzaeridou, Urania; Hoffmann, Georg F; Sperl, Wolfgang; Wittig, Ilka; Wilichowski, Ekkehard; Schottmann, Gudrun; Schuelke, Markus; Plecko, Barbara; Stephani, Ulrich; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger; Freisinger, Peter (2014). Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Molecular Genetics and Metabolism, 111(3):342-352.

Wortmann, Saskia B; Kluijtmans, Leo A J; Rodenburg, Richard J; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S; Smuts, Izelle; Reinecke, Carolus J; van der Westhuizen, Francois H; Thorburn, David; Smeitink, Jan A M; Morava, Eva; Wevers, Ron A (2013). 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. Journal of Inherited Metabolic Disease, 36(6):913-921.

Mayr, Johannes A; Haack, Tobias B; Graf, Elisabeth; Zimmermann, Franz A; Wieland, Thomas; Haberberger, Birgit; Superti-Furga, Andrea; Kirschner, Janbernd; Steinmann, Beat; Baumgartner, Matthias R; Moroni, Isabella; Lamantea, Eleonora; Zeviani, Massimo; Rodenburg, Richard J; Smeitink, Jan; Strom, Tim M; Meitinger, Thomas; Sperl, Wolfgang; Prokisch, Holger (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. American Journal of Human Genetics, 90(2):314-320.

This list was generated on Sun Sep 23 00:58:18 2018 CEST.