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Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency Schlotawa, Lars; Tyka, Karolina; Kettwig, Matthias; Ahrens-Nicklas, Rebecca C.; Baud, Matthias; Berulava, Tea; Brunetti-Pierri, Nicola; Gagne, Alyssa; Herbst, Zackary M.; Maguire, Jean A.; Monfregula, Jlenia; Pena, Tonatiuh; Radhakrishnan, Karthikeyan; Schroeder, Sophie; Waxman, Elisa A.; Ballabio, Andrea; Dierks, Thomas; Fischer, Andre; French, Deborah L.; Gelb, Michael H.; Gaertner, Jutta 分享 收藏
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Mutations in TAF8 cause a neurodegenerative disorder Wong, Keit Men; Jepsen, Wayne M.; Efthymiou, Stephanie; Salpietro, Vincenzo; Sanchez-Castillo, Meredith; Yip, Janice; Kriouile, Yamna; Diegmann, Susann; Dreha-Kulaczewski, Steffi; Altmuller, Janine; Thiele, Holger; Nurnberg, Peter; Toosi, Mehran Beiraghi; Akhondian, Javad; Karimiani, Ehsan Ghayoor; Hummel-Abmeier, Hannah; Huppke, Brenda; Houlden, Henry; Gartner, Jutta; Maroofian, Reza; Huppke, Peter 分享 收藏
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration Luebben, Anna, V; Bender, Daniel; Becker, Stefan; Crowther, Lisa M.; Erven, Ilka; Hofmann, Kay; Soeding, Johannes; Klemp, Henry; Bellotti, Cristina; Stauble, Andreas; Qiu, Tian; Kathayat, Rahul S.; Dickinson, Bryan C.; Gaertner, Jutta; Sheldrick, George M.; Kraetzner, Ralph; Steinfeld, Robert 分享 收藏
Efficacy and safety of ofatumumab in recently diagnosed, treatment-naive patients with multiple sclerosis: Results from ASCLEPIOS I and II Gaertner, Jutta; Hauser, Stephen L.; Bar-Or, Amit; Montalban, Xavier; Cohen, Jeffrey A.; Cross, Anne H.; Deiva, Kumaran; Ganjgahi, Habib; Haering, Dieter A.; Li, Bingbing; Pingili, Ratnakar; Ramanathan, Krishnan; Su, Wendy; Willi, Roman; Kieseier, Bernd; Kappos, Ludwig 分享 收藏
Deep breathing couples CSF and venous flow dynamics Kollmeier, Jost M.; Guerbuez-Reiss, Lukas; Sahoo, Prativa; Badura, Simon; Ellebracht, Ben; Keck, Mathilda; Gaertner, Jutta; Ludwig, Hans-Christoph; Frahm, Jens; Dreha-Kulaczewski, Steffi 分享 收藏
Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy RNaseT2缺陷型白质脑病小鼠模型中干扰素驱动的脑表型 Kettwig, Matthias; Ternka, Katharina; Wendland, Kristin; Krueger, Dennis Manfred; Zampar, Silvia; Schob, Charlotte; Franz, Jonas; Aich, Abhishek; Winkler, Anne; Sakib, M. Sadman; Kaurani, Lalit; Epple, Robert; Werner, Hauke B.; Hakroush, Samy; Kitz, Julia; Prinz, Marco; Bartok, Eva; Hartmann, Gunther; Schroeder, Simone; Rehling, Peter; Henneke, Marco; Boretius, Susann; Alia, A.; Wirths, Oliver; Fischer, Andre; Stadelmann, Christine; Nessler, Stefan; Gaertner, Jutta 分享 收藏
Concurrent axon and myelin destruction differentiates X-linked adrenoleukodystrophy from multiple sclerosis Bergner, Caroline G.; Genc, Nafiye; Hametner, Simon; Franz, Jonas; van der Meer, Franziska; Mitkovski, Miso; Weber, Martin S.; Stoltenburg-Didinger, Gisela; Kuehl, Joern-Sven; Koehler, Wolfgang; Brueck, Wolfgang; Gaertner, Jutta; Stadelmann, Christine 分享 收藏
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Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease Sofou, Kalliopi; Meier, Kolja; Sanderson, Leslie E.; Kaminski, Debora; Montoliu-Gaya, Laia; Samuelsson, Emma; Blomqvist, Maria; Agholme, Lotta; Gaertner, Jutta; Muehlhausen, Chris; Darin, Niklas; Barakat, Tahsin Stefan; Schlotawa, Lars; van Ham, Tjakko; Cayuela, Jorge Asin; Sterky, Fredrik H. 分享 收藏
A novel remitting leukodystrophy associated with a variant in FBP2 Gizak, Agnieszka; Diegmann, Susann; Dreha-Kulaczewski, Steffi; Wisniewski, Janusz; Duda, Przemyslaw; Ohlenbusch, Andreas; Huppke, Brenda; Henneke, Marco; Hoehne, Wolfgang; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Rakus, Dariusz; Gaertner, Jutta; Huppke, Peter 分享 收藏
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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? Pennisi, Alessandra; Rotig, Agnes; Roux, Charles-Joris; Levy, Raphael; Henneke, Marco; Gartner, Jutta; Kisa, Pelin Teke; Sarioglu, Fatma Ceren; Yis, Uluc; Konczal, Laura L.; Burkardt, Deepika D.; Wu, Sulin; Gaignard, Pauline; Besmond, Claude; Hubert, Laurence; Rio, Marlene; Barcia, Giulia; Munnich, Arnold; Boddaert, Nathalie; Schiff, Manuel 分享 收藏
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