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Number of items: 5.

Müller, A; Helbig, I; Jansen, C; Bast, T; Guerrini, R; Jähn, J; Muhle, H; Auvin, S; Korenke, G C; Philip, S; Keimer, R; Striano, P; Wolf, N I; Püst, B; Thiels, Ch; Fogarasi, A; Waltz, S; Kurlemann, G; Kovacevic-Preradovic, T; Ceulemans, B; Schmitt, B; Philippi, H; Tarquinio, D; Buerki, S; von Stülpnagel, C; Kluger, G (2016). Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy. European Journal of Paediatric Neurology, 20(1):147-151.

Dafinger, C; Liebau, M C; Elsayed, S M; Hellenbroich, Y; Boltshauser, E; Korenke, G C; Fabretti, F; Janecke, A R; Ebermann, I; Nürnberg, G; Nürnberg, P; Zentgraf, H; Koerber, F; Addicks, K; Elsobky, E; Benzing, T; Schermer, B; Bolz, H J (2011). Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation, 121(7):2662-2667.

Pineda, M; Wraith, J E; Mengel, E; Sedel, F; Hwu, W L; Rohrbach, M; Bembi, B; Walterfang, M; Korenke, G C; Marquardt, T; Luzy, C; Giorgino, R; Patterson, M C (2009). Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Molecular Genetics and Metabolism, 98(3):243-249.

Wraith, J E; Guffon, N; Rohrbach, M; Hwu, W L; Korenke, G C; Bembi, B; Luzy, C; Giorgino, R; Sedel, F (2009). Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Molecular Genetics and Metabolism, 98(3):250-254.

Schulz, A L; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, C A; Korenke, G C; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M (2008). Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clinical Genetics, 73(1):62-70.

This list was generated on Fri Jul 21 15:23:37 2017 CEST.