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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Blickhäuser, Beryll, Stenton, Sarah L, Neuhofer, Christiane M, Floride, Elisa, Nesbitt, Victoria, Fratter, Carl, Koch, Johannes, Kauffmann, Birgit, Catarino, Claudia, Schlieben, Lea Dewi, Kopajtich, Robert, Carelli, Valerio, Sadun, Alfredo A, McFarland, Robert, Fang, Fang, La Morgia, Chiara, Paquay, Stéphanie, Nassogne, Marie Cécile, Ghezzi, Daniele, Lamperti, Costanza, Wortmann, Saskia, Poulton, Jo, Klopstock, Thomas, Prokisch, Holger
Published in Brain (London, England : 1878) (03.06.2024)
Published in Brain (London, England : 1878) (03.06.2024)
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
Schwartz, Oliver, Vill, Katharina, Pfaffenlehner, Michelle, Behrens, Max, Weiß, Claudia, Johannsen, Jessika, Friese, Johannes, Hahn, Andreas, Ziegler, Andreas, Illsinger, Sabine, Smitka, Martin, von Moers, Arpad, Kölbel, Heike, Schreiber, Gudrun, Kaiser, Nadja, Wilichowski, Ekkehard, Flotats-Bastardas, Marina, Husain, Ralf A, Baumann, Matthias, Köhler, Cornelia, Trollmann, Regina, Schwerin-Nagel, Annette, Eisenkölbl, Astrid, Schimmel, Mareike, Fleger, Martin, Kauffmann, Birgit, Wiegand, Gert, Baumgartner, Manuela, Rauscher, Christian, Cirak, Sebahattin, Gläser, Dieter, Bernert, Günther, Hagenacker, Tim, Goldbach, Susanne, Probst-Schendzielorz, Kristina, Lochmüller, Hanns, Müller-Felber, Wolfgang, Schara-Schmidt, Ulrike, Walter, Maggie C, Kirschner, Janbernd, Pechmann, Astrid
Published in JAMA pediatrics (01.06.2024)
Published in JAMA pediatrics (01.06.2024)
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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J
Published in Human molecular genetics (01.09.2019)
Published in Human molecular genetics (01.09.2019)
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Characterization of children with early onset pediatric multiple sclerosis
Kauth, Franziska, Bertolini, Annikki, Wendel, Eva-Maria, Koukou, Georgia, Naggar, Ines El, Chung, Jena, Baumann, Matthias, Schödl, Christopher, Lechner, Christian, Bigi, Sandra, Blaschek, Astrid, Hengstler, Jan Georg, Schimmel, Mareike, Nosadini, Margherita, Sartori, Stefano, Puthenparampil, Marco, van's Gravesande, Karin Storm, Drenckhahn, Anne, Nikolaus, Marc, Kauffmann, Birgit, Thiels, Charlotte, Häusler, Martin Georg, Eckenweiler, Matthias, Karenfort, Michael, Marina, Adela Della, Selek, Ayberk, Öncel, Ibrahim, Kornek, Barbara, Reindl, Markus, Rostásy, Kevin
Published in European journal of paediatric neurology (01.01.2025)
Published in European journal of paediatric neurology (01.01.2025)
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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J
Published in Human molecular genetics (27.03.2020)
Published in Human molecular genetics (27.03.2020)
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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study
Becker, Lena-Luise, Hahn, Andreas, Bernert, Günther, Goldhahn, Klaus, Horber, Veronka, Eisenkölbl, Astrid, Garbade, Sven F., Ziegler, Andreas, Baum, Petra, Bertsche, Astrid, Eckenweiler, Matthias, Geis, Tobias, Goldhahn, Klaus, Hagenacker, Tim, Hamelmann, Eckard, Löscher, Wolfgang, Ludolph, Albert, Neuwirth, Christoph, Pühringer, Manuel, Schäfer, Dorothee, Schimmel, Mareike, Schreiber-Katz, Olivia, Vorgerd, Matthias, Walter, Maggie C., Wiegand, Gert, Wunderlich, Gilbert, Wurster, Claudia Diana, Zeller, Daniel, Zeiner, Fiona, Henzi, Bettina, Reinhardt, Tabea, Holzwarth, Dorothea, Classen, Georg, Roland-Schäfer, Doris, Hartmann, Hans, Fischer, Sophie, Hotter, Anna, Wiethoff, Sarah, Osmanovic, Alma, Tomforde, Maike, Güttsches, Anne, Wick, Wolfgang, Stoltenburg, Corinna, Dörnbrack, Katharina, Zemlin, Michael, Lapp, Hanna Sophie, Brakemeier, Svenja, Ntemiris, Klearchos, Kaiser, Nadja, Borowski, Sabine, Baum, Tobias, Vill, Katharina, Dibrani, Zylfie, Wohnrade, Camilla, Deba, Timo, Schallner, Jens, Roeder, Melanie, Berberich, Nicole, Saier, Christina, Müller-Kaempffer, Katharina, Albers, Kristina, Bretschneider, Christa, Dorst, Johannes, Kendzierski, Thomas, Gangfuß, Andrea, Johann to Settel, Eva, Hollerauer, Carmen, Seeber, Lea, Montagnese, Federica, Wagner, Alexandra, Leypold, Christine, Anna, Elmecker, Wider, Sabine, Busch, Franziska, Wessel, Maria, Lipka, Jaqueline, Roth, Erdmute, Schuster, Joachim, Holtkamp, Britta, Foerster, Sandy, Küpper, Hanna, Müller, Anja, Wollinsky, Kurt, Leinert, Antonia, Omran, Heymut, Claus, Nicole, Hagenmeyer, Anna, Schnurr, Marion, Kampowski, Tim, Renger, Isabelle, Lehnert, Ilka, Kaindl, Angela M., Hoevel, Annegret, Pechmann, Astrid, Probst-Schendzielorz, Kristina, Hammer, Julie, Müller-Kaempfer, Katharina, Enzmann, Cornelia, Fluss, Joël, Tscherter, Anne
Published in The Lancet regional health. Europe (01.12.2024)
Published in The Lancet regional health. Europe (01.12.2024)
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Endovascular thrombectomy for childhood stroke (Save ChildS Pro): an international, multicentre, prospective registry study
Sporns, Peter B, Bhatia, Kartik, Abruzzo, Todd, Pabst, Lisa, Fraser, Stuart, Chung, Melissa G, Lo, Warren, Othman, Ahmed, Steinmetz, Sebastian, Jensen-Kondering, Ulf, Schob, Stefan, Kaiser, Daniel P O, Marik, Wolfgang, Wendl, Christina, Kleffner, Ilka, Henkes, Hans, Kraehling, Hermann, Nguyen-Kim, Thi Dan Linh, Chapot, René, Yilmaz, Umut, Wang, Furene, Hafeez, Muhammad Ubaid, Requejo, Flavio, Limbucci, Nicola, Kauffmann, Birgit, Möhlenbruch, Markus, Nikoubashman, Omid, Schellinger, Peter D, Musolino, Patricia, Alawieh, Ali, Wilson, Jenny, Grieb, Dominik, Gersing, Alexandra S, Liebig, Thomas, Olivieri, Martin, Schwabova, Jaroslava Paulasova, Tomek, Ales, Papanagiotou, Panagiotis, Boulouis, Grégoire, Naggara, Olivier, Fox, Christine K, Orlov, Kirill, Kuznetsova, Alexandra, Parra-Farinas, Carmen, Muthusami, Prakash, Regenhardt, Robert W, Dmytriw, Adam A, Burkard, Tanja, Martinez, Mesha, Brechbühl, Daniel, Steinlin, Maja, Sun, Lisa R, Hassan, Ameer E, Kemmling, André, Lee, Sarah, Fullerton, Heather J, Fiehler, Jens, Psychogios, Marios-Nikos, Wildgruber, Moritz
Published in The lancet child & adolescent health (01.12.2024)
Published in The lancet child & adolescent health (01.12.2024)
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Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational studyResearch in context
Claudia Weiß, Lena-Luise Becker, Johannes Friese, Astrid Blaschek, Andreas Hahn, Sabine Illsinger, Oliver Schwartz, Günther Bernert, Maja von der Hagen, Ralf A. Husain, Klaus Goldhahn, Janbernd Kirschner, Astrid Pechmann, Marina Flotats-Bastardas, Gudrun Schreiber, Ulrike Schara, Barbara Plecko, Regina Trollmann, Veronka Horber, Ekkehard Wilichowski, Matthias Baumann, Andrea Klein, Astrid Eisenkölbl, Cornelia Köhler, Georg M. Stettner, Sebahattin Cirak, Oswald Hasselmann, Angela M. Kaindl, Sven F. Garbade, Jessika Johannsen, Andreas Ziegler, Petra Baum, Manuela Baumgartner, Astrid Bertsche, Markus Blankenburg, Jonas Denecke, Marcus Deschauer, Matthias Eckenweiler, Tobias Geis, Klaus Goldhahn, Martin Groß, René Günther, Tim Hagenacker, Eckard Hamelmann, Ralf A. Husain, Christoph Kamm, Birgit Kauffmann, Jan Christoph Koch, Wolfgang Löscher, Albert Ludolph, Pascal Martin, Alexander Mensch, Gerd Meyer zu Hörste, Christoph Neuwirth, Susanne Petri, Manuel Pühringer, Imke Rathmann, Dorothee Schäfer, Mareike Schimmel, Bertold Schrank, Olivia Schreiber-Katz, Anette Schwerin-Nagel, Martin Smitka, Meike Steinbach, Elisabeth Steiner, Johannes Stoffels, Manuela Theophil, Raffi Topakian, Matthias Türk, Matthias Vorgerd, Maggie C. Walter, Markus Weiler, Gert Wiegand, Gilbert Wunderlich, Claudia Diana Wurster, Daniel Zeller, Moritz Metelmann, Fiona Zeiner, Veronika Pilshofer, Mika Rappold, Josefine Pauschek, Christof Reihle, Annette Karolin Homma, Paul Lingor, Bettina Henzi, Tabea Reinhardt, Dorothea Holzwarth, Wolfgang Wittmann, Stefan Kappel, Maren Freigang, Benjamin Stolte, Kyriakos Martakis, Georg Classen, Doris Roland-Schäfer, Daniela Steuernagel, Hans Hartmann, Sophie Fischer, Marieke Wermuth, Mohamad Tareq Muhandes, Anna Hotter
Published in The Lancet regional health. Europe (01.12.2024)
Published in The Lancet regional health. Europe (01.12.2024)
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