Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy von Eckenweiler, M., Catarino, C. B., Gallenmueller, C., Klopstock, T., Lagrèze, W. A., Korinthenberg, R., Kirschner, J.

Volltext

Acute tick-borne encephalitis during pregnancy – An alarming combination von Weinmayr, L.M., Kanz, D., Eckenweiler, M., Bormann, T., Huzly, D., Bardutzky, J., Harloff, A.

Volltext

Adverse events associated with deep brain stimulation in patients with childhood-onset dystonia von Koy, A., Bockhorn, N., Kühn, A.A., Schneider, G.-H., Krause, P., Lauritsch, K., Witt, K., Paschen, S., Deuschl, G., Krauss, J.K., Saryyeva, A., Runge, J., Borggraefe, I., Mehrkens, J.H., Horn, A., Vesper, J., Schnitzler, A., Siegert, S., Freilinger, M., Eckenweiler, M., Coenen, V.A., Tadic, V., Voges, J., Pauls, K.A.M., Wirths, J., Timmermann, L., Hellmich, M., Abdallat, Mahmoud, Ascencao, Laura Cassini, Grünwald, Svetlana, Wloch, Andreas, Schrader, Christoph, Groiss, Stefan J., Wojtecki, Lars

Volltext

Freiburg Neuropathology Case Conference: An Infant with a Supratentorial Mass Lesion von Taschner, C.A., Erny, D., Shah, M.J., Eckenweiler, M., Urbach, H., Lutz, K., Prinz, M.

Volltext

Measuring the Head Circumference on MRI von Rau, A, Demerath, T, Kremers, N, Eckenweiler, M, von der Warth, R, Urbach, H

Volltext

Echoarme Milzläsionen nach Fahrradsturz von Emerich, C., Möllmann, C., Heeg, M., Eckenweiler, M., Stenzel, M., Bode, S.F.N.

Volltext

Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy von Eckenweiler, M, Catarino, C B, Gallenmueller, C, Klopstock, T, Lagrèze, W A, Korinthenberg, R, Kirschner, J

Volltext

Monogenic variants in dystonia: an exome-wide sequencing study von Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Vill, Katharina, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, 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, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane

Volltext

Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients von Jarius, Sven, Lechner, Christian, Wendel, Eva M., Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Haeusler, Martin, Krieg, Peter, Eisenkoelbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Juergen, Hoeftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, Rostasy, Kevin

Volltext

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia von Neilson, Derek E., Zech, Michael, Hufnagel, Robert B., Slone, Jesse, Wang, Xinjian, Homan, Shelli, Gutzwiller, Lisa M., Leslie, Elizabeth J., Leslie, Nancy D., Xiao, Jianfeng, Hedera, Peter, LeDoux, Mark S., Gebelein, Brian, Wilbert, Friederike, Eckenweiler, Matthias, Winkelmann, Juliane, Gilbert, Donald L., Huang, Taosheng

Volltext

CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia von Delle Vedove, Andrea, Natarajan, Janani, Zanni, Ginevra, Eckenweiler, Matthias, Muiños-Bühl, Anixa, Storbeck, Markus, Guillén Boixet, Jordina, Barresi, Sabina, Pizzi, Simone, Hölker, Irmgard, Körber, Friederike, Franzmann, Titus M., Bertini, Enrico S., Kirschner, Janbernd, Alberti, Simon, Tartaglia, Marco, Wirth, Brunhilde

Volltext

Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001) von Orbach, Rotem, Syeda, Safoora, Mohassel, Payam, Dohrn, Maike, Lone, Museer A., Donkervoort, Sandra, Foley, A. Reghan, Beijer, Danique, Bayraktar, Elif, Oflazer, Piraye, Munot, Pinki, Rose, Aubrey, Lyons, Michael, Louie, Raymond, Gable, Kenneth, Franca, Marcondes C., Galarza-Brito, Juan E., Eckenweiler, Matthias, Asamoah, Alexander, Majumdar, Anirban, Shieh, Perry, Schumann, Anke, Gupta, Sita D., Lakhotia, Arpita, Jackson, Kelly, Chao, Kathrine R., Winder, Thomas, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Chen, Sitong, Danzi, Matt, Synofzik, Matthis, Muntoni, Francesco, Başak, A. Nazli, Dunn, Teresa M., Hornemann, Thorsten, Zuchner, Stephan, Bonnemann, Carsten

Volltext

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy von Mercuri, Eugenio, Darras, Basil T, Chiriboga, Claudia A, Day, John W, Campbell, Craig, Connolly, Anne M, Iannaccone, Susan T, Kirschner, Janbernd, Kuntz, Nancy L, Saito, Kayoko, Shieh, Perry B, Tulinius, Már, Mazzone, Elena S, Montes, Jacqueline, Bishop, Kathie M, Yang, Qingqing, Foster, Richard, Gheuens, Sarah, Bennett, C. Frank, Farwell, Wildon, Schneider, Eugene, De Vivo, Darryl C, Finkel, Richard S

Volltext

Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients von Jarius, Sven, Lechner, Christian, Wendel, Eva M, Baumann, Matthias, Breu, Markus, Schimmel, Mareike, Karenfort, Michael, Marina, Adela Della, Merkenschlager, Andreas, Thiels, Charlotte, Blaschek, Astrid, Salandin, Michela, Leiz, Steffen, Leypoldt, Frank, Pschibul, Alexander, Hackenberg, Annette, Hahn, Andreas, Syrbe, Steffen, Strautmanis, Jurgis, Häusler, Martin, Krieg, Peter, Eisenkölbl, Astrid, Stoffels, Johannes, Eckenweiler, Matthias, Ayzenberg, Ilya, Haas, Jürgen, Höftberger, Romana, Kleiter, Ingo, Korporal-Kuhnke, Mirjam

Volltext

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 von 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

Volltext

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 c... von 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

Volltext

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis von Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

Volltext bestellen

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia von Neilson, Derek E, Zech, Michael, Hufnagel, Robert B, Slone, Jesse, Wang, Xinjian, Homan, Shelli, Gutzwiller, Lisa M, Leslie, Elizabeth J, Leslie, Nancy D, Xiao, Jianfeng, Hedera, Peter, LeDoux, Mark S, Gebelein, Brian, Wilbert, Friederike, Eckenweiler, Matthias, Winkelmann, Juliane, Gilbert, Donald L, Huang, Taosheng

Volltext bestellen

Monogenic variants in dystonia: an exome-wide sequencing study von Zech, Michael, Jech, Robert, Boesch, Sylvia, Skorvanek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Necpal, Jan, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Havrankova, Petra, Roth, Jan, Prihodova, Iva, Adamovicova, Miriam, Ulmanova, Olga, Bechyne, Karel, Vesely, Branislav, Han, Vladimir, Pavelekova, Petra, Gdovinova, Zuzana, Mantel, Tobias, Meindl, Tobias, Schroeder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaefa, Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Svantnerova, Jana, Minar, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Ounap, Katrin, Schatz, Ulrich A, Poelsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilhofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Person, Richard E, Zamora, Francisca Milian, 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, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Wortmann, Saskia B, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Ruzicka, Evzen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ploski, Rafai, Daumke, Ofiver, Mall, Volker, Oexle, Konrad, Winkehnann, Juliane

Volltext bestellen