Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease by Rath, Matthias, Korenke, G. Christoph, Najm, Juliane, Hoffmann, Georg F., Hagendorff, Angela, Strom, Tim M., Felbor, Ute

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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency by 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

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Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency by Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Holger eProkisch, Tobias Bernd Haack, Tobias Bernd Haack

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Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns–Sayre/MELAS overlap syndrome and A3243G mtDNA mutation by Wilichowski, Ekkehard, Christoph Korenke, Georg, Ruitenbeek, Wim, De Meirleir, Linda, Hagendorff, Angela, Janssen, Antoon J.M, Lissens, Willy, Hanefeld, Folker

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Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease by Rath, Matthias, Korenke, G Christoph, Najm, Juliane, Hoffmann, Georg F, Hagendorff, Angela, Strom, Tim M, Felbor, Ute

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Poster session 3: Thursday 4 December 2014, 14:00-18:00 Location: Poster area by Fukuyama, A., Nagata, Y., Kawasaki, M., Minatoguchi, S., Wanatabe, T., Noda, T., Ageli, K., Felekos, I., Abdelrasoul, M., Tsiamis, E., Favilli, R., Gonzalez, M., Jousten, I., Pavel, O., Liu, Y.-W., Bieseviciene, M., Hristova, K., Cornelissen, G., Spethmann, S., Risos, L., Dedobbeleer, C., Sroussi, M., Baum, P., Lau, M., Makowska, E., Budaj, A., Watanabe, S., Chirinos, J. A., Claessens, T. C., Yoon, Y., Rim, S., Matta, S., Skouri, H., Peteiro, J., Yanez Wonenburger, J., Alvarez Garcia, N., Zemir, H., Clerc, J., Rodriguez Palomares, J. F., Ashour, S., Caiani, E., Hu, K., Ertl, G., Figini, F., Chieffo, A., Colombo, A., Naghshbandi, E., Samiei, N., Omelchenko, M., Kochanowski, J., Budnik, M., Opolski, G., Ben Jmaa, M., Muratori, M., Lo Giudice, F., Silva Cunha, P., Choi, H., Youn, T., Mielczarek, M., Venner, C., Bencivenga, S., Penco, M., Maceira Gonzalez, A. M., Ruvira, J., Kim, S., Mpapatzeva Vagena, I., Moreno Yanguela, M., Stevanovic, A., Palombo, C., Takagi, Y., Akashi, Y., Pechilkov, D., Pilosoff, V., Sarafov, S., Vladimirova, L., Tournev, I., Mozenska, O., Cinello, M., Savu, O., Moldovan, H., Brandon Bravo Bruinsma, G., Helft, G., Petroni, T., Boubrit, L., Le Feuvre, C., Van De Bruaene, A., Fazendas, P., Monakier, D., Saijo, Y., Hayashi, S., Nishio, S., Rajani, R., Kosiuk, J., Lutai, M., Kalapos, A., Domsik, P., Orosz, A., Pinto-Teixeira, P., Nogueira-Silva, M., Cho, I. J.

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