Anzahl der Publikationen: 18
Zeitschriftenartikel
Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane und Zech, Michael
(2023):
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
In: Annals of Neurology, Bd. 93, Nr. 2: S. 330-335
[PDF, 1MB]
Sanin, Veronika
ORCID: https://orcid.org/0000-0001-5371-7230; Schmieder, Raphael; Ates, Sara; Schlieben, Lea Dewi; Wiehler, Jens; Sun, Ruoyu; Decker, Manuela; Sander, Michaela; Holdenrieder, Stefan; Kohlmayer, Florian; Friedmann, Anna; Mall, Volker; Feiler, Therese; Dreßler, Arne; Strom, Tim M; Prokisch, Holger; Meitinger, Thomas; Scheidt, Moritz von
ORCID: https://orcid.org/0000-0001-7159-8271; Koenig, Wolfgang
ORCID: https://orcid.org/0000-0002-2064-9603; Leipold, Georg und Schunkert, Heribert
(2022):
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
In: European Journal of Public Health, Bd. 32, Nr. 3: S. 422-428
[PDF, 894kB]
Dzinovic, Ivana; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Pavelekova, Petra; Havrankova, Petra; Tsoma, Eugenia; Indelicato, Elisabetta; Runkel, Eva; Held, Valentin; Weise, David; Janzarik, Wibke; Eckenweiler, Matthias; Berweck, Steffen; Mall, Volker; Haslinger, Bernhard; Jech, Robert; Winkelmann, Juliane und Zech, Michael
(2022):
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
In: Parkinsonism & Related Disorders, Bd. 102: S. 1-6
Sanin, Veronika; Schmieder, Raphael; Ates, Sara; Schlieben, Lea Dewi; Wiehler, Jens; Sun, Ruoyu; Decker, Manuela; Sander, Michaela; Holdenrieder, Stefan; Kohlmayer, Florian; Friedmann, Anna; Mall, Volker; Feiler, Therese; Dressler, Arne; Strom, Tim M.; Prokisch, Holger; Meitinger, Thomas; Scheidt, Moritz von; Koenig, Wolfgang; Leipold, Georg und Schunkert, Heribert
(2022):
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
In: Medizinische Genetik, Bd. 34, Nr. 1: S. 41-51
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius
(2021):
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
In: Human Mutation, Bd. 42, Nr. 6: S. 762-776
[PDF, 3MB]
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; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranova, Teresa; Rektorova, Irena; Havrankova, Petra; Ganai, Shahzaman; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Shariati, Mohammad; Shoeibi, Ali; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Berutti, Riccardo; Strom, Tim M.; Ceballos-Baumann, Andres; Mall, Volker; Haslinger, Bernhard; Jech, Robert und Winkelmann, Juliane
(2021):
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
In: Parkinsonism & Related Disorders, Bd. 84: S. 129-134
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
Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N.; Clark, Karl J.; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B.; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E.; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H.; Klee, Eric W.; Engleman, Kendra; Safina, Nicole P.; Slaugh, Rachel; Bryant, Emily M.; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N.; Schaefer, G. Bradley; Towner, Shelley; Brilstra, Eva H. und Koeleman, Bobby P. C.
(2020):
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
In: Genetics in Medicine, Bd. 22, Nr. 8: S. 1413-1417
[PDF, 479kB]
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]
Schoof, Melanie; Launspach, Michael; Holdhof, Dorthe; Nguyen, Lynhda; Engel, Verena; Filser, Severin; Peters, Finn; Immenschuh, Jana; Hellwig, Malte; Niesen, Judith; Mall, Volker; Ertl-Wagner, Birgit; Hagel, Christian; Spohn, Michael; Lutz, Beat; Sedlacik, Jan; Indenbirken, Daniela; Merk, Daniel J. und Schueller, Ulrich
(2019):
The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration.
In: Acta Neuropathologica Communications, Bd. 7, Nr. 1, 199
Gravesande, Karin; Blaschek, Astrid; Calabrese, Pasquale; Rostasy, Kevin; Huppke, Peter; Kessler, Josef J.; Kalbe, Elke; Mall, Volker; Kraus, V.; Dornfeld, E.; Elpers, C.; Lohmann, H.; Weddige, A.; Hagspiel, S.; Kirschner, J.; Brehm, M.; Blank, C.; Schubert, J.; Schimmel, M.; Pachee, S.; Mohrbach, M.; Karenfort, M.; Kamp, G.; Luecke, T.; Neumann, H.; Lutz, S.; Gierse, A.; Sievers, S.; Schiffinann, H.; Soye, I. de; Trollmann, R.; Candova, A.; Rosner, M.; Neu, A.; Romer, G.; Seidel, U.; John, R.; Hofmann, C.; Schulz-Kinder, S.; Bertolatus, A.; Scheidtmann, K.; Lasogga, R.; Leiz, S.; Alber, M.; Kranz, J.; Bajer-Kornek, B.; Seidl, R. und Novak, A.
(2019):
Fatigue and depression predict health-related quality of life in patients with pediatric-onset multiple sclerosis.
In: Multiple Sclerosis and Related Disorders, Bd. 36, UNSP 101368
Altschuck, Natalie; Bauer, Christian; Nehring, Ina; Boehm, Harald; Jakobeit, Martin; Schröder, A. Sebastian; Mall, Volker und Jung, Nikolai H.
(2019):
Efficacy of prefabricated carbon-composite ankle foot orthoses for children with unilateral spastic cerebral palsy exhibiting a drop foot pattern.
In: Journal of Pediatric Rehabilitation Medicine, Bd. 12, Nr. 2: S. 171-180
Sollmann, Nico; Trepte-Freisleder, Florian; Albers, Lucia; Jung, Nikolai H.; Mall, Volker; Meyer, Bernhard; Heinen, Florian; Krieg, Sandro M. und Landgraf, Mirjarm N.
(2016):
Magnetic stimulation of the upper trapezius muscles in patients with migraine - A pilot study.
In: European Journal of Paediatric Neurology, Bd. 20, Nr. 6: S. 888-897
Mainberger, Florian; Jung, Nikolai H.; Zenker, Martin; Wahllaender, Ute; Freudenberg, Leonie; Langer, Susanne; Berweck, Steffen; Winkler, Tobias; Straube, Andreas; Heinen, Florian; Granstroem, Sofia; Mautner, Victor-Felix; Lidzba, Karen und Mall, Volker
(2013):
Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1.
In: BMC Neurology
13:131
[PDF, 525kB]
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