Resultados de búsqueda - Steinfeld, Robert

CD9 and folate receptor overexpression are not sufficient for VSV-G-independent lentiviral transduction por Bellotti, Cristina, Stäuble, Andreas, Steinfeld, Robert

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Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia por Kettwig, Matthias, Ohlenbusch, Andreas, Jung, Klaus, Steinfeld, Robert, Gärtner, Jutta

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High-grade extracellular vesicles preparation by combined size-exclusion and affinity chromatography por Bellotti, Cristina, Lang, Kristina, Kuplennik, Nataliya, Sosnik, Alejandro, Steinfeld, Robert

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Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder por Steinfeld, Robert, Reinhardt, Konstanze, Schreiber, Kathrin, Hillebrand, Merle, Kraetzner, Ralph, Brück, Wolfgang, Saftig, Paul, Gärtner, Jutta

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Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases por Yambire, King Faisal, Fernandez-Mosquera, Lorena, Steinfeld, Robert, Mühle, Christiane, Ikonen, Elina, Milosevic, Ira, Raimundo, Nuno

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Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism por Steinfeld, Robert, Grapp, Marcel, Kraetzner, Ralph, Dreha-Kulaczewski, Steffi, Helms, Gunther, Dechent, Peter, Wevers, Ron, Grosso, Salvatore, Gärtner, Jutta

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Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA por Sidhu, Navdeep S., Schreiber, Kathrin, Pröpper, Kevin, Becker, Stefan, Usón, Isabel, Sheldrick, George M., Gärtner, Jutta, Krätzner, Ralph, Steinfeld, Robert

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Structure and activity of the only human RNase T2 por Thorn, Andrea, Steinfeld, Robert, Ziegenbein, Marc, Grapp, Marcel, Hsiao, He-Hsuan, Urlaub, Henning, Sheldrick, George M., Gärtner, Jutta, Krätzner, Ralph

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Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort por Kehrer, Christiane, Groeschel, Samuel, Kustermann-Kuhn, Birgit, Bürger, Friederike, Köhler, Wolfgang, Kohlschütter, Alfried, Bley, Annette, Steinfeld, Robert, Gieselmann, Volkmar, Krägeloh-Mann, Ingeborg

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Early childhood neurodevelopmental outcome after open prenatal spina bifida aperta repair por Hepp, Zehra S, Haas, Verena M, Latal, Beatrice, Meuli, Martin, Möhrlen, Ueli, Schauer, Sonja M, Steinfeld, Robert, Padden, Beth A, Wille, David A

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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration por Kasper, Dagmar, Planells-Cases, Rosa, Fuhrmann, Jens C, Scheel, Olaf, Zeitz, Oliver, Ruether, Klaus, Schmitt, Anja, Poët, Mallorie, Steinfeld, Robert, Schweizer, Michaela, Kornak, Uwe, Jentsch, Thomas J

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Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy por Kühl, Jörn-Sven, Kupper, Jana, Baqué, Hermann, Ebell, Wolfram, Gärtner, Jutta, Korenke, Christoph, Spors, Birgit, Steffen, Ingo G., Strauss, Gabriele, Voigt, Sebastian, Weschke, Bernhard, Weddige, Almuth, Köhler, Wolfgang, Steinfeld, Robert

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CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression por Cao, Xuanye, Wolf, Annika, Kim, Sung-Eun, Cabrera, Robert M., Wlodarczyk, Bogdan J., Zhu, Huiping, Parker, Margaret, Lin, Ying, Steele, John W., Han, Xiao, Ramaekers, Vincent Th, Steinfeld, Robert, Finnell, Richard H., Lei, Yunping

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Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration por Luebben, Anna V., Bender, Daniel, Becker, Stefan, Crowther, Lisa M., Erven, Ilka, Hofmann, Kay, Söding, Johannes, Klemp, Henry, Bellotti, Cristina, Stäuble, Andreas, Qiu, Tian, Kathayat, Rahul S., Dickinson, Bryan C., Gärtner, Jutta, Sheldrick, George M., Krätzner, Ralph, Steinfeld, Robert

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Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking por Stockler, Sylvia, Corvera, Silvia, Lambright, David, Fogarty, Kevin, Nosova, Ekaterina, Leonard, Deborah, Steinfeld, Robert, Ackerley, Cameron, Shyr, Casper, Au, Nicolas, Selby, Kathrin, van Allen, Margot, Vallance, Hilary, Wevers, Ron, Watkins, David, Rosenblatt, David, Ross, Colin J, Conibear, Elizabeth, Wasserman, Wyeth, van Karnebeek, Clara

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Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency por Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.

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Survival among Children with “Lethal” Congenital Contracture Syndrome 11 Caused by Novel Mutations in the Gliomedin Gene (GLDN) por Wambach, Jennifer A., Stettner, Georg M., Haack, Tobias B., Writzl, Karin, Škofljanec, Andreja, Maver, Aleš, Munell, Francina, Ossowski, Stephan, Bosio, Mattia, Wegner, Daniel J., Shinawi, Marwan, Baldridge, Dustin, Alhaddad, Bader, Strom, Tim M., Grange, Dorothy K., Wilichowski, Ekkehard, Troxell, Robin, Collins, James, Warner, Barbara B., Schmidt, Robert E., Pestronk, Alan, Cole, F. Sessions, Steinfeld, Robert

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Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly por Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H. C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza, Rauch, Anita

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Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients por Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver

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Monogenic variants in dystonia: an exome-wide sequencing study por Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V., Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H., Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A., Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S., Riedhammer, Korbinian M., Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M., Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E., Millan Zamora, Francisca, Henderson, Lindsay B., Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M., Ozelius, Laurie J., Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B., Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D., Dyment, David, Chung, Wendy K., Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane

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