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Anzahl der Publikationen: 4
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, Bd. 148: S. 2827-2846
[PDF, 1MB]
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, Bd. 148: S. 2827-2846
[PDF, 1MB]
Harrer, Philip; Krygier, Magdalena ORCID: https://orcid.org/0000-0002-6607-5983; Krenn, Martin ORCID: https://orcid.org/0000-0003-3026-3082; Kittke, Volker; Danis, Martin; Krastev, Georgi; Saparov, Alice; Pichon, Virginie; Malbos, Marlène; Scherer, Clarisse; Dzinovic, Ivana; Skorvanek, Matej ORCID: https://orcid.org/0000-0001-5497-8715; Kopajtich, Robert; Prokisch, Holger; Silvaieh, Sara; Grisold, Anna; Mazurkiewicz‐Bełdzińska, Maria; Sainte Agathe, Jean‐Madeleine de; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2025):
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
In: Movement Disorders, Bd. 4, Nr. 7: S. 1388-1400
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-6607-5983; Krenn, Martin ORCID: https://orcid.org/0000-0003-3026-3082; Kittke, Volker; Danis, Martin; Krastev, Georgi; Saparov, Alice; Pichon, Virginie; Malbos, Marlène; Scherer, Clarisse; Dzinovic, Ivana; Skorvanek, Matej ORCID: https://orcid.org/0000-0001-5497-8715; Kopajtich, Robert; Prokisch, Holger; Silvaieh, Sara; Grisold, Anna; Mazurkiewicz‐Bełdzińska, Maria; Sainte Agathe, Jean‐Madeleine de; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947 und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2025):
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
In: Movement Disorders, Bd. 4, Nr. 7: S. 1388-1400
[PDF, 1MB]
Sorrentino, Ugo ORCID: https://orcid.org/0000-0001-8139-6198; Pavlov, Martin; Mirza‐Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia ORCID: https://orcid.org/0000-0002-0788-2961; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M. ORCID: https://orcid.org/0000-0001-9932-5187; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne ORCID: https://orcid.org/0000-0002-7991-4432; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra ORCID: https://orcid.org/0000-0002-7731-5129; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Skorvanek, Matej ORCID: https://orcid.org/0000-0001-5497-8715; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947; Prokisch, Holger; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252; Graf, Elisabeth und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2025):
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
In: Movement Disorders [Forthcoming]
ORCID: https://orcid.org/0000-0001-8139-6198; Pavlov, Martin; Mirza‐Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia ORCID: https://orcid.org/0000-0002-0788-2961; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M. ORCID: https://orcid.org/0000-0001-9932-5187; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne ORCID: https://orcid.org/0000-0002-7991-4432; Di Fonzo, Alessio ORCID: https://orcid.org/0000-0001-6478-026X; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra ORCID: https://orcid.org/0000-0002-7731-5129; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan ORCID: https://orcid.org/0000-0002-4626-9588; Skorvanek, Matej ORCID: https://orcid.org/0000-0001-5497-8715; Jech, Robert ORCID: https://orcid.org/0000-0002-9732-8947; Prokisch, Holger; Winkelmann, Juliane ORCID: https://orcid.org/0000-0002-3074-599X; Oexle, Konrad ORCID: https://orcid.org/0000-0001-7447-2252; Graf, Elisabeth und Zech, Michael ORCID: https://orcid.org/0000-0001-8112-9153
(2025):
Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
In: Movement Disorders [Forthcoming]
Jacob, Maureen; Kölbel, Heike; Harrer, Philip; Kopajtich, Robert; Munot, Pinki; Achleitner, Melanie T; Badmann, Susann; Brugger, Melanie ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]
ORCID: https://orcid.org/0000-0002-6920-8550; Brunet, Theresa ORCID: https://orcid.org/0000-0002-5183-780X; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid ORCID: https://orcid.org/0000-0002-7935-3401; Saparov, Alice; Schänzer, Anne ORCID: https://orcid.org/0000-0002-2014-2028; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim ORCID: https://orcid.org/0000-0003-3280-6773; Wilson, Louise C; Ben Yaou, Rabah; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David ORCID: https://orcid.org/0000-0001-5654-7791; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix ORCID: https://orcid.org/0000-0001-8460-3738; Mayr, Johannes A und Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823
(2025):
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
In: Brain, awaf227 [Forthcoming]