Epilepsy monitoring devices in children and adolescents. English version: The perspective of families.

Autor: Borusiak, Peter, Bast, Thomas, Haberlandt, Edda, Wiegand, Gert

Publikováno v: Clinical Epileptology / Zertifizierte Fortbildung; Dec2024 Suppl 3, Vol. 37, p165-169, 5p

Monogenic variants in dystonia: an exome-wide sequencing study

Autor: 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, Zamora, Francisca Millan, 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 ^*

Publikováno v: In The Lancet Neurology November 2020 19(11):908-918

The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disorders

Autor: Zlamy, Manuela, Hofstätter, Justina, Albrecht, Ursula, Baumgartner, Sara, Haberlandt, Edda, Scholl-Bürgi, Sabine, Guntersweiler, Doris, Reinehr, Michael, Mihic-Probst, Daniela, Karall, Daniela

Publikováno v: In Modern Pathology June 2019 32(6):755-763

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Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy.

Autor: Haberlandt, Edda^1,2 (AUTHOR), Valovka, Taras¹ (AUTHOR), Janjic, Tanja³ (AUTHOR), Müller, Thomas¹ (AUTHOR), Blatsios, Georgios⁴ (AUTHOR), Karall, Daniela¹ (AUTHOR), Janecke, Andreas R.^1,5 (AUTHOR) andreas.janecke@i-med.ac.at

Publikováno v: Molecular Genetics & Genomic Medicine. Mar2021, Vol. 9 Issue 3, p1-8. 8p.