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Anzahl der Publikationen: 6
Zeitschriftenartikel
Zech, Michael; Dzinovic, Ivana; Skorvanek, Matej; Harrer, Philip; Necpal, Jan; Kopajtich, Robert; Kittke, Volker; Tilch, Erik; Zhao, Chen; Tsoma, Eugenia; Sorrentino, Ugo; Indelicato, Elisabetta 
ORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; 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 ORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; 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 ORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane
(2025):
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
In: Brain [Forthcoming]
ORCID: https://orcid.org/0000-0003-0217-8630; Stehr, Antonia; Saparov, Alice; Abela, Lucia; Adamovicova, Miriam; Afenjar, Alexandra; Assmann, Birgit; Baloghova, Janette; Baumann, Matthias; Berutti, Riccardo; Brezna, Zuzana; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Cogne, Benjamin; Colangelo, Isabel; Conboy, Erin; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; 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 ORCID: https://orcid.org/0000-0002-7991-4432; Krenn, Martin; Krygier, Magdalena; Kusikova, Katarina; Maier, Oliver; Meitinger, Thomas; Mertes, Christian; Milenkovic, Ivan; Monfrini, Edoardo ORCID: https://orcid.org/0000-0003-4720-9234; Santos Dias Mourao, Andre; Musacchio, Thomas; Nizon, Mathilde; Ostrozovicova, Miriam ORCID: https://orcid.org/0000-0003-1519-1535; Pavlov, Martin; Prihodova, Iva; Rektorova, Irena; Romito, Luigi M. ORCID: https://orcid.org/0000-0002-6772-1035; 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 ORCID: https://orcid.org/0000-0002-4454-8823; Weise, David; Zorzi, Giovanna; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Oexle, Konrad; Berweck, Steffen; Mall, Volker; Boesch, Sylvia; Schormair, Barbara ORCID: https://orcid.org/0000-0003-0942-5243; Prokisch, Holger; Jech, Robert und Winkelmann, Juliane
(2025):
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
In: Brain [Forthcoming]
Nasca, Alessia; Mencacci, Niccolo E.; Invernizzi, Federica; Zech, Michael; Sarmiento, Ignacio J. Keller; Legati, Andrea; Frascarelli, Chiara; Bustos, Bernabe; Romito, Luigi M.; Krainc, Dimitri; Winkelmann, Juliane; Carecchio, Miryam; Nardocci, Nardo; Zorzi, Giovanna; Prokisch, Holger; Lubbe, Steven J.; Garavaglia, Barbara und Ghezzi, Daniele
(2023):
Variants in ATP5F1B are associated with dominantly inherited dystonia.
In: Brain, Bd. 146, Nr. 7: S. 2730-2738
[PDF, 913kB]
Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; Egmond, Martje E. van; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Bötzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A. und Winkelmann, Juliane
(2020):
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
In: Annals of Neurology, Bd. 88, Nr. 5: S. 867-877
[PDF, 20MB]
Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L.; Fraser, Jamie L.; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A.; Kmiec, Tomasz; Lang, Anthony; Marti, Maria J.; Mercimek-Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A. M.; Perez-Duenas, Belen; Pfeiffer, Helle Cecilie Viekilde; Planellas, Lluis; Roze, Emmanuel; Thakur, Nivedita; Tochen, Laura; Vanegas-Arroyave, Nora; Zorzi, Giovanna; Burns, Colleen und Greblikas, Feriandas
(2020):
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders, Bd. 36, Nr. 6: S. 1342-1352
[PDF, 305kB]
ORCID: https://orcid.org/0000-0003-2805-4652; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L.; Fraser, Jamie L.; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A.; Kmiec, Tomasz; Lang, Anthony; Marti, Maria J.; Mercimek-Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A. M.; Perez-Duenas, Belen; Pfeiffer, Helle Cecilie Viekilde; Planellas, Lluis; Roze, Emmanuel; Thakur, Nivedita; Tochen, Laura; Vanegas-Arroyave, Nora; Zorzi, Giovanna; Burns, Colleen und Greblikas, Feriandas
(2020):
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders, Bd. 36, Nr. 6: S. 1342-1352
[PDF, 305kB]
Klopstock, Thomas; Tricta, Fernando; Neumayr, Lynne; Karin, Ivan; Zorzi, Giovanna; Fradette, Caroline; Kmiec, Tomasz; Buchner, Boriana; Steele, Hannah E.; Horvath, Rita; Chinnery, Patrick F.; Basu, Anna; Kupper, Clemens; Neuhofer, Christiane; Kalman, Bernadette; Dusek, Petr; Yapici, Zuhal; Wilson, Ian; Zhao, Feng; Zibordi, Federica; Nardocci, Nardo; Aguilar, Christine; Hayflick, Susan J.; Spino, Michael; Blamire, Andrew M.; Hogarth, Penelope und Vichinsky, Elliott
(2019):
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
In: Lancet Neurology, Bd. 18, Nr. 7: S. 631-642
Hogarth, Penelope; Kurian, Manju A.; Gregory, Allison; Csányi, Barbara; Zagustin, Tamara; Kmiec, Tomasz; Wood, Patricia; Klucken, Angelika; Scalise, Natale; Sofia, Francesca; Klopstock, Thomas; Zorzi, Giovanna; Nardocci, Nardo und Hayflick, Susan J.
(2017):
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
In: Molecular Genetics and Metabolism, Bd. 120, Nr. 3: S. 278-287