Søgeresultater - Bley, Annette

Natural History of Infantile G(M2) Gangliosidosis af Bley, Annette E., Giannikopoulos, Ourania A., Hayden, Doug, Kubilus, Kim, Tifft, Cynthia J., Eichler, Florian S.

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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder af Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin

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The natural history of Canavan disease: 23 new cases and comparison with patients from literature af Bley, Annette, Denecke, Jonas, Kohlschütter, Alfried, Schön, Gerhard, Hischke, Sandra, Guder, Philipp, Bierhals, Tatjana, Lau, Heather, Hempel, Maja, Eichler, Florian S.

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Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort af 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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Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy af Zierfuss, Bettina, Weinhofer, Isabelle, Kühl, Jörn‐Sven, Köhler, Wolfgang, Bley, Annette, Zauner, Katharina, Binder, Johannes, Martinović, Ksenija, Seiser, Christian, Hertzberg, Christoph, Kemp, Stephan, Egger, Gerda, Leitner, Gerda, Bauer, Jan, Wiesinger, Christoph, Kunze, Markus, Forss‐Petter, Sonja, Berger, Johannes

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Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease af Stumpf, Sina K., Berghoff, Stefan A., Trevisiol, Andrea, Spieth, Lena, Düking, Tim, Schneider, Lennart V., Schlaphoff, Lennart, Dreha-Kulaczewski, Steffi, Bley, Annette, Burfeind, Dinah, Kusch, Kathrin, Mitkovski, Miso, Ruhwedel, Torben, Guder, Philipp, Röhse, Heiko, Denecke, Jonas, Gärtner, Jutta, Möbius, Wiebke, Nave, Klaus-Armin, Saher, Gesine

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Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease af Stumpf, Sina K., Berghoff, Stefan A., Trevisiol, Andrea, Spieth, Lena, Düking, Tim, Schneider, Lennart V., Schlaphoff, Lennart, Dreha-Kulaczewski, Steffi, Bley, Annette, Burfeind, Dinah, Kusch, Kathrin, Mitkovski, Miso, Ruhwedel, Torben, Guder, Philipp, Röhse, Heiko, Denecke, Jonas, Gärtner, Jutta, Möbius, Wiebke, Nave, Klaus-Armin, Saher, Gesine

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POLR3A variants with striatal involvement and extrapyramidal movement disorder af Harting, Inga, Al-Saady, Murtadha, Krägeloh-Mann, Ingeborg, Bley, Annette, Hempel, Maja, Bierhals, Tatjana, Karch, Stephanie, Moog, Ute, Bernard, Geneviève, Huntsman, Richard, van Spaendonk, Rosalina M. L., Vreeburg, Maaike, Rodríguez-Palmero, Agustí, Pujol, Aurora, van der Knaap, Marjo S., Pouwels, Petra J. W., Wolf, Nicole I.

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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy init... af Schoenmakers, Daphne H., Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G., Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M., Hollak, Carla E. M., Lindemans, Caroline, Mochel, Fanny, Mol, Peter G. M., Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I.

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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 af Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline

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Defective removal of ribonucleotides from DNA promotes systemic autoimmunity af Günther, Claudia, Kind, Barbara, Reijns, Martin A.M., Berndt, Nicole, Martinez-Bueno, Manuel, Wolf, Christine, Tüngler, Victoria, Chara, Osvaldo, Lee, Young Ae, Hübner, Norbert, Bicknell, Louise, Blum, Sophia, Krug, Claudia, Schmidt, Franziska, Kretschmer, Stefanie, Koss, Sarah, Astell, Katy R., Ramantani, Georgia, Bauerfeind, Anja, Morris, David L., Cunninghame Graham, Deborah S., Bubeck, Doryen, Leitch, Andrea, Ralston, Stuart H., Blackburn, Elizabeth A., Gahr, Manfred, Witte, Torsten, Vyse, Timothy J., Melchers, Inga, Mangold, Elisabeth, Nöthen, Markus M., Aringer, Martin, Kuhn, Annegret, Lüthke, Kirsten, Unger, Leonore, Bley, Annette, Lorenzi, Alice, Isaacs, John D., Alexopoulou, Dimitra, Conrad, Karsten, Dahl, Andreas, Roers, Axel, Alarcon-Riquelme, Marta E., Jackson, Andrew P., Lee-Kirsch, Min Ae

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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function af Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C af Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève

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