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Anzahl der Publikationen: 7
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]
Dafsari, Hormos Salimi ORCID: https://orcid.org/0000-0003-3483-5009; Deneubourg, Celine; Singh, Kritarth ORCID: https://orcid.org/0000-0003-4072-6888; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E.; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel ORCID: https://orcid.org/0000-0001-6860-372X; Marafi, Dana ORCID: https://orcid.org/0000-0003-2233-3423; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D.; Rosenfeld, Jill A. ORCID: https://orcid.org/0000-0001-5664-7987; Mohila, Carrie A.; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi‐Fakhari, Darius ORCID: https://orcid.org/0000-0002-0026-4714; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D.; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; Berkestijn, Frederique M.C. van; Silwal, Arpana ORCID: https://orcid.org/0000-0002-0950-3101; Koene, Saskia; Verma, Sumit ORCID: https://orcid.org/0000-0003-1992-4556; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi‐Gorji, Farzad ORCID: https://orcid.org/0000-0002-9996-9406; Alavi, Shahryar ORCID: https://orcid.org/0000-0002-3484-3423; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A.; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E.; Wilke, Martina; Barakat, Tahsin Stefan ORCID: https://orcid.org/0000-0003-1231-1562; Tajsharghi, Homa ORCID: https://orcid.org/0000-0001-8854-5213; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié‐Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I.; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F.; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H.G ORCID: https://orcid.org/0000-0002-0730-4061; Krainc, Dimitri; Mencacci, Niccolò E.; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R.; Kurian, Manju A.; Dötsch, Jörg; von Kleist‐Retzow, Jürgen‐Christoph; Klopstock, Thomas; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi‐Vici, Carlo; Gautel, Mathias; Duchen, Michael R ORCID: https://orcid.org/0000-0003-2548-4294; Antebi, Adam ORCID: https://orcid.org/0000-0002-7241-3029; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Fanto, Manolis ORCID: https://orcid.org/0000-0001-7807-2563 und Jungbluth, Heinz ORCID: https://orcid.org/0000-0002-7159-3427
(2025):
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism.
In: Annals of Neurology, Bd. 98, Nr. 5: S. 932-950
[PDF, 4MB]
ORCID: https://orcid.org/0000-0003-3483-5009; Deneubourg, Celine; Singh, Kritarth ORCID: https://orcid.org/0000-0003-4072-6888; Maroofian, Reza ORCID: https://orcid.org/0000-0001-6763-1542; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E.; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel ORCID: https://orcid.org/0000-0001-6860-372X; Marafi, Dana ORCID: https://orcid.org/0000-0003-2233-3423; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D.; Rosenfeld, Jill A. ORCID: https://orcid.org/0000-0001-5664-7987; Mohila, Carrie A.; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi‐Fakhari, Darius ORCID: https://orcid.org/0000-0002-0026-4714; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D.; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; Berkestijn, Frederique M.C. van; Silwal, Arpana ORCID: https://orcid.org/0000-0002-0950-3101; Koene, Saskia; Verma, Sumit ORCID: https://orcid.org/0000-0003-1992-4556; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi‐Gorji, Farzad ORCID: https://orcid.org/0000-0002-9996-9406; Alavi, Shahryar ORCID: https://orcid.org/0000-0002-3484-3423; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A.; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E.; Wilke, Martina; Barakat, Tahsin Stefan ORCID: https://orcid.org/0000-0003-1231-1562; Tajsharghi, Homa ORCID: https://orcid.org/0000-0001-8854-5213; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié‐Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I.; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F.; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H.G ORCID: https://orcid.org/0000-0002-0730-4061; Krainc, Dimitri; Mencacci, Niccolò E.; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R.; Kurian, Manju A.; Dötsch, Jörg; von Kleist‐Retzow, Jürgen‐Christoph; Klopstock, Thomas; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi‐Vici, Carlo; Gautel, Mathias; Duchen, Michael R ORCID: https://orcid.org/0000-0003-2548-4294; Antebi, Adam ORCID: https://orcid.org/0000-0002-7241-3029; Houlden, Henry ORCID: https://orcid.org/0000-0002-2866-7777; Fanto, Manolis ORCID: https://orcid.org/0000-0001-7807-2563 und Jungbluth, Heinz ORCID: https://orcid.org/0000-0002-7159-3427
(2025):
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism.
In: Annals of Neurology, Bd. 98, Nr. 5: S. 932-950
[PDF, 4MB]
Seyedtaghia, Mohammad Reza; Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Vafadar, Shabnam; Shalaei, Neda; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2023):
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease.
In: Heliyon, Bd. 9, Nr. 4, e15393
[PDF, 3MB]
Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane und Zech, Michael
(2022):
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
In: Parkinsonism & Related Disorders, Bd. 97: S. 52-56
Soudyab, Mohammad; Shariati, Mohammad; Esfehani, Reza Jafarzadeh; Shalaei, Neda; Vafadar, Shabnam; Nouri, Vahid; Zech, Michael; Winkelmann, Juliane; Shoeibi, Ali und Sadr-Nabavi, Ariane
(2022):
Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.
In: Journal of Molecular Neuroscience, Bd. 72, Nr. 12: S. 2486-2496
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