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
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Donkervoort, Sandra; van de Locht, Martijn; Ronchi, Dario; Reunert, Janine; McLean, Catriona A.; Zaki, Maha; Orbach, Rotem; de Winter, Josine M.; Conijn, Stefan; Hoomoedt, Daan; Neto, Osorio Lopes Abath; Magri, Francesca; Viaene, Angela N.; Foley, A. Reghan; Gorokhova, Svetlana; Bolduc, Veronique; Hu, Ying; Acquaye, Nicole; Napoli, Laura; Park, Julien H.; Immadisetty, Kalyan; Miles, Lee B.; Essawi, Mona; McModie, Salar; Ferreira, Leonardo F.; Zanotti, Simona; Neuhaus, Sarah B.; Medne, Livija; ElBagoury, Nagham; Johnson, Kory R.; Zhang, Yong; Laing, Nigel G.; Davis, Mark R.; Bryson-Richardson, Robert J.; Hwee, Darren T.; Hartman, James J.; Malik, Fady I.; Kekenes-Huskey, Peter M.; Comi, Giacomo Pietro; Sharaf-Eldin, Wessam; Marquardt, Thorsten; Ravenscroft, Gianina; Bonnemann, Carsten G.; Ottenheijm, Coen A. C. 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
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Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez-Alegre, Pedro; Sarmiento, Ignacio J. Keller; Mencacci, Niccolo E.; Lubbe, Steven J.; Kurian, Manju A.; Clot, Fabienne; Meneret, Aurelie; Agathe, Jean-Madeleine de Sainte; Fung, Victor S. C.; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane; Boesch, Sylvia 分享 收藏
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Application of a glycinated bile acid biomarker fordiagnosisand assessment of response to treatment in Niemann-pick disease type C1 Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J.; Farhat, Nicole Y.; An Ngoc Dang Do; Porter, Forbes D.; Berry-Kravis, Elizabeth; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenco, Charles M.; Wang, Raymond Y.; Movsesyan, Nina; Plummer, Ellen; Schaffer, Jean E.; Ory, Daniel S.; Jiang, Xuntian 分享 收藏
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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
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J.; Farhat, Nicole Y.; An Ngoc Dang Do; Porter, Forbes D.; Berry-Kravis, Elizabeth; Vite, Charles H.; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenco, Charles M.; Bodamer, Olaf; Wang, Raymond Y.; Plummer, Ellen; Schaffer, Jean E.; Ory, Daniel S.; Jiang, Xuntian 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
Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes Wiegmann, H.; Reunert, J.; Metze, D.; Marquardt, T.; Engel, T.; Kunde, V.; Ehl, S.; Foell, D.; van den Heuvel, I.; Oji, V.; Wittkowski, H. 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
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects Rujano, Maria A.; Serio, Magda Cannata; Panasyuk, Ganna; P, Romain Anne; Reunert, Janine; Rymen, Daisy; Hauser, Virginie; Park, Julien H.; Freisinger, Peter; Souche, Erika; Guida, Maria Clara; Maier, Esther M.; Wada, Yoshinao; Jager, Stefanie; Krogan, Nevan J.; Kretz, Oliver; Nobre, Susana; Garcia, Paula; Quelhas, Dulce; Bird, Thomas D.; Raskind, Wendy H.; Schwake, Michael; Duvet, Sandrine; Foulquier, Francois; Matthijs, Gert; Marquardt, Thorsten; Simons, Matias 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
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