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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 10
Zeitschriftenartikel
Krenn, Martin; Tomschik, Matthias; Wagner, Matias; Zulehner, Gudrun; Weng, Rosa; Rath, Jakob; Klotz, Sigrid; Gelpi, Ellen; Bsteh, Gabriel; Keritam, Omar; Colonna, Isabella; Paternostro, Chiara; Jaeger, Fiona; Lindeck-Pozza, Elisabeth; Iglseder, Stephan; Grinzinger, Susanne; Schönfelder, Martina; Hohenwarter, Christina; Freimüller, Manfred; Embacher, Norbert; Wanschitz, Julia; Topakian, Raffi; Toepf, Ana; Straub, Volker; Quasthoff, Stefan; Zimprich, Fritz; Loescher, Wolfgang N. und Cetin, Hakan
(2022):
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
In: European Journal of Neurology, Bd. 29, Nr. 6: S. 1815-1824
Vogel, Florian D.; Krenn, Martin; Westphal, Dominik S.; Graf, Elisabeth; Wagner, Matias; Leiz, Steffen; Koniuszewski, Filip; Auge-Stock, Maximilian; Kramer, Georg; Scholze, Petra und Ernst, Margot
(2022):
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
In: Epilepsia, Bd. 63, Nr. 4, E35-E41
Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S.; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M.; Hoefele, Julia; Goetze, Katharina S.; Meitinger, Thomas und Wagner, Matias
(2022):
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.
In: Human Molecular Genetics, Bd. 31, Nr. 14: S. 2386-2395
[PDF, 544kB]
Krenn, Martin; Schloegl, Monika; Pataraia, Ekaterina; Gelpi, Ellen; Schroeder, Sebastian; Rauscher, Christian; Mayr, Johannes A.; Kotzot, Dieter; Zimprich, Fritz; Meitinger, Thomas und Wagner, Matias
(2021):
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
In: Seizure-European Journal of Epilepsy, Bd. 87: S. 25-29
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad
(2021):
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964
[PDF, 488kB]
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, 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; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, 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.; 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 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.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; 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; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
Boonsimma, Ponghatai; Gasser, Marius Michael; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthong, Chalurmpon; Ittiwut, Chupong; Wagner, Matias; Krenn, Martin; Zimprich, Fritz; Abicht, Angela; Biskup, Saskia; Roser, Timo; Borggraefe, Ingo; Suphapeetiporn, Kanya und Shotelersuk, Vorasuk
(2020):
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
In: Gene, Bd. 749, 144709
Gasser, Marius; Boonsimma, Ponghatai; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthomg, Chalurmpon; Ittiwut, Chupong; Krenn, Martin; Zimprich, Fritz; Milenkovic, Ivan; Abicht, Angela; Biskup, Saskia; Roser, Timo; Shotelersuk, Vorasuk; Tacke, Moritz; Kuersten, Marianne; Wagner, Matias; Borggraefe, Ingo; Suphapeetiporn, Kanya und Stulpnagel, Celina von
(2020):
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
In: Journal of Clinical Neuroscience, Bd. 72: S. 31-38
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; 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.; 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 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.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; 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; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
[PDF, 1MB]
Abou-Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; Craig, John J.; Haan, Gerrit-Jan de; Jonghe, Peter de; Kovel, Carolien G. F. de; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J.; Doherty, Colin P.; Elger, Christian E.; Eriksson, Johan G.; Ferraro, Thomas N.; Feucht, Martha; Francis, Ben; Franke, Andre; French, Jacqueline A.; Freytag, Saskia; Gaus, Verena; Geller, Eric B.; Gieger, Christian; Glauser, Tracy; Glynn, Simon; Goldstein, David B.; Gui, Hongsheng; Guo, Youling; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Haut, Sheryl; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Hjalgrim, Helle; Iacomino, Michele; Ingason, Andres; Jamnadas-Khoda, Jennifer; Johnson, Michael R.; Kalviainen, Reetta; Kantanen, Anne-Mari; Kasperaviciute, Dalia; Kasteleijn-Nolst Trenité, Dorothée; Kirsch, Heidi E.; Knowlton, Robert C.; Koeleman, Bobby P. C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Kuzniecky, Ruben; Kwan, Patrick; Lal, Dennis; Lau, Yu-Lung; Lehesjoki, Anna-Elina; Lerche, Holger; Leu, Costin; Lieb, Wolfgang; Lindhout, Dick; Lo, Warren D.; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Malovini, Alberto; Marson, Anthony G.; Mayer, Thomas; McCormack, Mark; Mills, James L.; Mirza, Nasir; Moerzinger, Martina; Moller, Rikke S.; Molloy, Anne M.; Muhle, Hiltrud; Newton, Mark; Ng, Ping-Wing; Nöthen, Markus M.; Nuernberg, Peter; O'Brien, Terence J.; Oliver, Karen L.; Palotie, Aarno; Pangilinan, Faith; Peter, Sarah; Petrovski, Slave; Poduri, Annapurna; Privitera, Michael; Radtke, Rodney; Rau, Sarah; Reif, Philipp S.; Reinthaler, Eva M.; Rosenow, Felix; Sander, Josemir W.; Sander, Thomas; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Sham, Pak C.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Slattery, Lisa; Smith, Alexander; Smith, David F.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Stevelink, Remi; Strauch, Konstantin; Striano, Pasquale; Stroink, Hans; Surges, Rainer; Tan, K. Meng; Thio, Liu Lin; Thomas, G. Neil; Todaro, Marian; Tozzi, Rossana; Vari, Maria S.; Vining, Eileen P. G.; Visscher, Frank; Spiczak, Sarah von; Walley, Nicole M.; Weber, Yvonne G.; Wei, Zhi; Weisenberg, Judith; Whelan, Christopher D.; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Yang, Wanling; Zara, Federico und Zimprich, Fritz
(2018):
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.
In: Nature Communications, Bd. 9, 5269
[PDF, 1MB]