Monogenic variants in dystonia: an exome-wide sequencing study by 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

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Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients by 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, Ringelstein, Marius, Ruprecht, Klemens, Siebert, Nadja, Schanda, Kathrin, Aktas, Orhan, Paul, Friedemann, Reindl, Markus, Wildemann, Brigitte, Rostásy, Kevin

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Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency by Grünert, Sarah Catharina, Eckenweiler, Matthias, Spiekerkoetter, Ute

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Measuring the Head Circumference on MRI in Children: an Interrater Study by Rau, Alexander, Demerath, Theo, Kremers, Nico, Eckenweiler, Matthias, von der Warth, Rieka, Urbach, Horst

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A further characterization of a novel variant of ATP5MC3 associated with dystonia and spastic paraplegia by Gissi, Clarissa, Comelli, Marina, D’Este, Francesca, Moras, Giada, Grassi, Bruno, Eckenweiler, Matthias, Carraro, Michela, Bernardi, Paolo, Zech, Michael, Lippe, Giovanna

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Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy by Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Schwersenz, Inge, Walter, Maggie C, Baumann, Matthias, Baumgartner, Manuela, Deschauer, Marcus, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Hahn, Andreas, Horber, Veronka, Husain, Ralf A, Illsinger, Sabine, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Stögmann, Eva, Trollmann, Regina, Vill, Katharina, Weiß, Claudia, Wiegand, Gert, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd

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The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein by Grünert, Sarah C., Eckenweiler, Matthias, Haas, Dorothea, Lindner, Martin, Tsiakas, Konstantinos, Santer, René, Tucci, Sara, Spiekerkoetter, Ute

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De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure by Pechmann, Astrid, Eckenweiler, Matthias, Schorling, David, Stavropoulou, Dimitra, Lochmüller, Hanns, Kirschner, Janbernd

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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia by Zech, Michael, Dzinovic, Ivana, Skorvanek, Matej, Harrer, Philip, Necpal, Jan, Kopajtich, Robert, Kittke, Volker, Tilch, Erik, Zhao, Chen, Tsoma, Eugenia, Sorrentino, Ugo, Indelicato, Elisabetta, Stehr, Antonia, Saparov, Alice, Abela, Lucia, Adamovicova, Miriam, Afenjar, Alexandra, Assmann, Birgit, Baloghova, Janette, Baumann, Matthias, Berutti, Riccardo, Brezna, Zuzana, Brugger, Melanie, Brunet, Theresa, Cogne, Benjamin, Colangelo, Isabel, Conboy, Erin, Distelmaier, Felix, Eckenweiler, Matthias, Garavaglia, Barbara, Geerlof, Arie, Graf, Elisabeth, Hackenberg, Annette, Harvanova, Denisa, Haslinger, Bernhard, Havrankova, Petra, Hoffmann, Georg F, Janzarik, Wibke G, Keren, Boris, Kolnikova, Miriam, Kolokotronis, Konstantinos, Kosutzka, Zuzana, Koy, Anne, Krenn, Martin, Krygier, Magdalena, Kusikova, Katarina, Maier, Oliver, Meitinger, Thomas, Mertes, Christian, Milenkovic, Ivan, Monfrini, Edoardo, Mourao, Andre Santos Dias, Musacchio, Thomas, Nizon, Mathilde, Ostrozovicova, Miriam, Pavlov, Martin, Prihodova, Iva, Rektorova, Irena, Romito, Luigi M, Rybanska, Barbora, Sadr-Nabavi, Ariane, Schwenger, Susanne, Shoeibi, Ali, Sitzberger, Alexandra, Smirnov, Dmitrii, Svantnerova, Jana, Tautanova, Raushana, Toelle, Sandra P, Ulmanova, Olga, Vetrini, Francesco, Vill, Katharina, Wagner, Matias, Weise, David, Zorzi, Giovanna, Di Fonzo, Alessio, Oexle, Konrad, Berweck, Steffen, Mall, Volker, Boesch, Sylvia, Schormair, Barbara, Prokisch, Holger, Jech, Robert, Winkelmann, Juliane

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Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1 by Kury, Patrick, Staniek, Julian, Wegehaupt, Oliver, Janowska, Iga, Eckenweiler, Matthias, Korinthenberg, Rudolf, Japaridze, Natia, Pendziwiat, Manuela, Helbig, Ingo, Verhoeyen, Els, Jung, Johannes, Garcia de Oteyza, Andres Caballero, Proietti, Michele, Phirtskhalaishvili, Tamar, Rtskhiladze, Irakli, Nielsen, Peter J., Ehl, Stephan, Speckmann, Carsten, Rizzi, Marta

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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes by Zech, Michael, Kopajtich, Robert, Steinbrücker, Katja, Bris, Céline, Gueguen, Naig, Feichtinger, René G., Achleitner, Melanie T., Duzkale, Neslihan, Périvier, Maximilien, Koch, Johannes, Engelhardt, Harald, Freisinger, Peter, Wagner, Matias, Brunet, Theresa, Berutti, Riccardo, Smirnov, Dmitrii, Navaratnarajah, Tharsini, Rodenburg, Richard J.T., Pais, Lynn S, Austin‐Tse, Christina, O'Leary, Melanie, Boesch, Sylvia, Jech, Robert, Bakhtiari, Somayeh, Jin, Sheng Chih, Wilbert, Friederike, Kruer, Michael C, Wortmann, Saskia B., Eckenweiler, Matthias, Mayr, Johannes A., Distelmaier, Felix, Steinfeld, Robert, Winkelmann, Juliane, Prokisch, Holger

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Pudding-Beine“ – Eine seltene Manifestation eines Glut1-Defizienz-Syndroms by Wilbert, Friederike, Eckenweiler, Matthias

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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia by 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

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Characterization of children with early onset pediatric multiple sclerosis by 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

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Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event by Toutouna, Louiza, Beck-Woedl, Stefanie, Feige, Ursula, Glaeser, Birgitta, Komlosi, Katalin, Eckenweiler, Matthias, Luetzen, Niklas, Haack, Tobias B, Fischer, Judith, Bader, Ingrid, Tzschach, Andreas

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Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single‐Arm, Multicenter Study with a Subsequent Randomized Double‐... by Koy, Anne, Kühn, Andrea A., Huebl, Julius, Schneider, Gerd‐Helge, Riesen, Anne K., Eckenweiler, Matthias, Rensing‐Zimmermann, Cornelia, Coenen, Volker Arnd, Krauss, Joachim K., Saryyeva, Assel, Hartmann, Hans, Haeussler, Martin, Volkmann, Jens, Matthies, Cordula, Horn, Annette, Schnitzler, Alfons, Vesper, Jan, Gharabaghi, Alireza, Weiss, Daniel, Bevot, Andrea, Marks, Warren, Pomykal, Angela, Monbaliu, Elegast, Borck, Guntram, Mueller, Joerg, Prinz‐Langenohl, Reinhild, Dembek, Till, Visser‐Vandewalle, Veerle, Wirths, Jochen, Schiller, Petra, Hellmich, Martin, Timmermann, Lars

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“Hide and seek”: Misleading transferrin variants in PMM2‐CDG complicate diagnostics by Raynor, Alexandre, Bruneel, Arnaud, Vermeersch, Pieter, Cholet, Sophie, Friedrich, Sebastian, Eckenweiler, Matthias, Schumann, Anke, Hengst, Simone, Tuncel, Ali Tunç, Fenaille, François, Thiel, Christian, Rymen, Daisy

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Post‐dural puncture headache—a single‐centre analysis in paediatric patients with and without SMA by Schorling, David C., Pechmann, Astrid, Eckenweiler, Matthias, Müller, Cornelia K., Langer, Thorsten, Kirschner, Janbernd

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The intrathecal, polyspecific antiviral immune response in neurosarcoidosis, acute disseminated encephalomyelitis and autoimmune encephalitis compared to multiple sclerosis in a te... by Hottenrott, Tilman, Dersch, Rick, Berger, Benjamin, Rauer, Sebastian, Eckenweiler, Matthias, Huzly, Daniela, Stich, Oliver

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CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia by 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

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