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Anzahl der Publikationen: 13
Zeitschriftenartikel
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias
(2021):
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28
[PDF, 2MB]
Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas und Haack, Tobias B.
(2021):
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
In: Brain, Bd. 144: S. 574-583
Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; Lee, Robin van der; Karnebeek, Clara D. van; Meitinger, Thomas; Krageloh-Mann, Ingeborg und Vill, Katharina
(2021):
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
In: Brain, Bd. 144: S. 411-419
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
Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; Smagt, Jasper J. van der; Wagner, Matias; Jech, Robert und Winkelmann, Juliane
(2020):
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
In: Parkinsonism & Related Disorders, Bd. 77: S. 70-75
Braunisch, Matthias Christoph; Riedhammer, Korbinian Maria; Herr, Pierre-Maurice; Draut, Sarah; Guenthner, Roman; Wagner, Matias; Weidenbusch, Marc; Lungu, Adrian; Alhaddad, Bader; Renders, Lutz; Strom, Tim M.; Heemann, Uwe; Meitinger, Thomas; Schmaderer, Christoph und Hoefele, Julia
(2020):
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
In: European Journal of Human Genetics, Bd. 29, Nr. 2: S. 262-270
Neuhofer, Christiane M.; Catarino, Claudia B.; Schmidt, Heinrich; Seelos, Klaus; Alhaddad, Bader; Haack, Tobias B. und Klopstock, Thomas
(2020):
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
In: Neurology-Genetics, Bd. 6, Nr. 5, e500
[PDF, 348kB]
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]
Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne und Haack, Tobias B.
(2018):
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
In: American Journal of Human Genetics, Bd. 103, Nr. 5: S. 817-825
Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole; Desguerre, Isabelle; Wörmann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix und Koch, Johannes
(2018):
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
In: Neuropediatrics, Bd. 49, Nr. 5: S. 330-338
Vill, Katharina; Müller-Felber, Wolfgang; Alhaddad, Bader; Strom, Tim M.; Teusch, Veronika; Weigand, Heike; Blaschek, Astrid; Meitinger, Thomas und Haack, Tobias B.
(2017):
A Homozygous Splice Variant in AP4S1 Mimicking Neurodegeneration with Brain Iron Accumulation.
In: Movement Disorders, Bd. 32, Nr. 5: S. 797-799
Kremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger und Haack, Tobias B.
(2016):
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
In: American Journal of Human Genetics, Bd. 98, Nr. 2: S. 358-362
Zech, Michael; Boesch, Sylvia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B.; Haslinger, Bernhard; Strom, Tim M. und Winkelmann, Juliane
(2016):
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
In: American Journal of Human Genetics, Bd. 99, Nr. 6: S. 1377-1387