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Number of items: 8.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Schiff, Manuel; Haberberger, Birgit; Xia, Chuanwu; Mohsen, Al-Walid; Goetzman, Eric S; Wang, Yudong; Uppala, Radha; Zhang, Yuxun; Karunanidhi, Anuradha; Prabhu, Dolly; Alharbi, Hana; Prochownik, Edward V; Haack, Tobias; Häberle, Johannes; Munnich, Arnold; Rötig, Agnes; Taylor, Robert W; Nicholls, Robert D; Kim, Jung-Ja; Prokisch, Holger; Vockley, Jerry (2015). Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Human Molecular Genetics, 24(11):3238-3247.

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.

Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

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.

Schulte, Eva C; Claussen, Malte C; Jochim, Angela; Haack, Tobias; Hartig, Monika; Hempel, Maja; Prokisch, Holger; Haun-Jünger, Ursula; Winkelmann, Juliane; Hemmer, Bernhard; Förschler, Annette; Ilg, Rüdiger (2013). Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation. Movement Disorders, 28(2):224-227.

Gai, Xiaowu; Ghezzi, Daniele; Johnson, Mark A; Biagosch, Caroline A; Shamseldin, Hanan E; Haack, Tobias B; Reyes, Aurelio; Tsukikawa, Mai; Sheldon, Claire A; Srinivasan, Satish; Gorza, Matteo; Kremer, Laura S; Wieland, Thomas; Strom, Tim M; Polyak, Erzsebet; Place, Emily; Consugar, Mark; Ostrovsky, Julian; Vidoni, Sara; Robinson, Alan J; Wong, Lee-Jun; Sondheimer, Neal; Salih, Mustafa A; Al-Jishi, Emtethal; Raab, Christopher P; Bean, Charles; Furlan, Francesca; Parini, Rossella; Lamperti, Costanza; Mayr, Johannes A; Konstantopoulou, Vassiliki; Huemer, Martina; Pierce, Eric A; Meitinger, Thomas; Freisinger, Peter; Sperl, Wolfgang; Prokisch, Holger; Alkuraya, Fowzan S; Falk, Marni J; Zeviani, Massimo (2013). Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics, 93(3):482-495.

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 Sat Feb 16 08:28:54 2019 CET.