未登录 Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency Penkl, Maximilian; Mayr, Johannes A.; Feichtinger, Rene G.; Reilmann, Ralf; Debus, Otfried; Fobker, Manfred; Penkl, Anja; Reunert, Janine; Rust, Stephan; Marquardt, Thorsten 分享 收藏
Mitochondrial DNA mutations in Medulloblastoma 髓母细胞瘤的线粒体DNA突变 Funke, Viktoria L. E.; Sandmann, Sarah; Melcher, Viktoria; Seggewiss, Jochen; Horvath, Judit; Jaeger, Natalie; Kool, Marcel; Jones, David T. W.; Pfister, Stefan M. M.; Milde, Till; Rutkowski, Stefan; Mynarek, Martin; Varghese, Julian; Straeter, Ronald; Rust, Stephan; Seelhoefer, Anja; Reunert, Janine; Fiedler, Barbara; Schueller, Ulrich; Marquardt, Thorsten; Kerl, Kornelius 分享 收藏
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents Park, Julien H.; Ousingsawat, Jiraporn; Cabrita, Ines; Bettels, Ruth E.; Grosse-Onnebrink, Joerg; Schmalstieg, Christian; Biskup, Saskia; Reunert, Janine; Rust, Stephan; Schreiber, Rainer; Kunzelmann, Karl; Marquardt, Thorsten 分享 收藏
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms Dittner-Moormann, Sabine; Lourenco, Charles Marques; Reunert, Janine; Nishinakamura, Ryuichi; Tanaka, Satomi S.; Werner, Claudius; Debus, Volker; Zimmer, Klaus-Peter; Wetzel, Gabriele; Naim, Hassan Y.; Wada, Yoshinao; Rust, Stephan; Marquardt, Thorsten 分享 收藏
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis SOD1缺乏症: 一种不同于肌萎缩性侧索硬化症的新综合征 Park, Fijulien H.; Elpers, Christiane; Reunert, Janine; McCormick, Michael L.; Mohr, Julia; Biskup, Saskia; Schwartz, Oliver; Rust, Stephan; Grueneberg, Marianne; Seelhoefer, Anja; Schara, Ulrike; Boltshauser, Eugen; Spitz, Douglas R.; Marquardt, Thorsten 分享 收藏
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy Park, Julien H.; Hogrebe, Max; Fobker, Manfred; Brackmann, Renate; Fiedler, Barbara; Reunert, Janine; Rust, Stephan; Tsiakas, Konstantinos; Santer, Rene; Gruneberg, Marianne; Marquardt, Thorsten 分享 收藏
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Association of Serotonin Transporter Gene AMID Methylation with Major Depression, Amygdala Responsiveness, 5-HTTLPR/rs25531 Polymorphism, and Stress Schneider, Ilona; Kugel, Harald; Redlich, Ronny; Grotegerd, Dominik; Buerger, Christian; Buerkner, Paul-Christian; Opel, Nils; Dohm, Katharina; Zaremba, Dario; Meinert, Susanne; Schroeder, Nina; Strassburg, Anna Milena; Schwarte, Kathrin; Schettler, Christiane; Ambree, Oliver; Rust, Stephan; Domschke, Katharina; Arolt, Volker; Heindel, Walter; Baune, Bernhard T.; Zhang, Weiqi; Dannlowski, Udo; Hohoff, Christa 分享 收藏
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction Stallmeyer, Birgit; Kuss, Johanna; Kotthoff, Stefan; Zumhagen, Sven; Vowinkel, Kirsty; Rinne, Susanne; Matschke, Lina A.; Friedrich, Corinna; Schulze-Bahr, Ellen; Rust, Stephan; Seebohm, Guiscard; Decher, Niels; Schulze-Bahr, Eric 分享 收藏
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia Schlingmann, Karl P.; Ruminska, Justyna; Kaufmann, Martin; Dursun, Ismail; Patti, Monica; Kranz, Birgitta; Pronicka, Ewa; Ciara, Elzbieta; Akcay, Teoman; Bulus, Derya; Cornelissen, Elisabeth A. M.; Gawlik, Aneta; Sikora, Przemyslaw; Patzer, Ludwig; Galiano, Matthias; Boyadzhiev, Veselin; Dumic, Miroslav; Vivante, Asaf; Kleta, Robert; Dekel, Benjamin; Levtchenko, Elena; Bindels, Rene J.; Rust, Stephan; Forster, Ian C.; Hernando, Nati; Jones, Glenville; Wagner, Carsten A.; Konrad, Martin 分享 收藏
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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Perez, Belen; Vicogne, Dorothee; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Perez-Cerda, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A. W.; Holleboom, Adriaan G.; Nassogne, Marie-Cecile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P. H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, Francois; Marquardt, Thorsten; Lefeber, Dirk J. 分享 收藏
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation Park, Julien H.; Hogrebe, Max; Grueneberg, Marianne; DuChesne, Ingrid; von der Heiden, Ava L.; Reunert, Janine; Schlingmann, Karl P.; Boycott, Kym M.; Beaulieu, Chandree L.; Mhanni, Aziz A.; Innes, A. Micheil; Hoertnagel, Konstanze; Biskup, Saskia; Gleixner, Eva M.; Kurlemann, Gerhard; Fiedler, Barbara; Omran, Heymut; Rutsch, Frank; Wada, Yoshinao; Tsiakas, Konstantinos; Santer, Rene; Nebert, Daniel W.; Rust, Stephan; Marquardt, Thorsten 分享 收藏
The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation (vol 436, pg 135, 2014) Park, Julien H.; Zuehlsdorf, Andrea; Wada, Yoshinao; Roll, Claudia; Rust, Stephan; Du Chesne, Ingrid; Grueneberg, Marianne; Reunert, Janine; Marquardt, Thorsten 分享 收藏
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3β,5α,6β-Cholestanetriol and 25-hydroxycholesterol accumulate in ATP- binding cassette transporter G1 (ABCG1)-deficiency Engel, Thomas; Fobker, Manfred; Buchmann, Jana; Kannenberg, Frank; Rust, Stephan; Nofer, Jerzy-Roch; Schuermann, Annette; Seedorf, Udo 分享 收藏
Serotonin Transporter Gene Methylation is Associated With Hippocampal Gray Matter Volume Dannlowski, Udo; Kugel, Harald; Redlich, Ronny; Halik, Adriane; Schneider, Ilona; Opel, Nils; Grotegerd, Dominik; Schwarte, Kathrin; Schettler, Christiane; Ambree, Oliver; Rust, Stephan; Domschke, Katharina; Arolt, Volker; Heindel, Walter; Baune, Bernhard T.; Suslow, Thomas; Zhang, Weiqi; Hohoff, Christa 分享 收藏
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Arjona, Francisco J.; de Baaij, Jeroen H. F.; Schlingmann, Karl P.; Lameris, Anke L. L.; van Wijk, Erwin; Flik, Gert; Regele, Sabrina; Korenke, G. Christoph; Neophytou, Birgit; Rust, Stephan; Reintjes, Nadine; Konrad, Martin; Bindels, Rene J. M.; Hoenderop, Joost G. J. 分享 收藏
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