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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 10
2025
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]
2023
Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; Svorenova, Tatiana; Ostrozovicova, Miriam; Kulcsarova, Kristina; Berutti, Riccardo; Busch, Hauke; Ott, Fabian; Kopajtich, Robert; Prokisch, Holger; Kumar, Kishore R.; Mencacci, Niccolo E.; Kurian, Manju A.; Di Fonzo, Alessio; Boesch, Sylvia; Kuehn, Andrea A.; Bluemlein, Ulrike; Lohmann, Katja; Haslinger, Bernhard; Weise, David; Jech, Robert; Winkelmann, Juliane und Zech, Michael
(2023):
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
In: Movement Disorders, Bd. 38, Nr. 10: S. 1914-1924
[PDF, 1MB]
2022
Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez-Alegre, Pedro; Sarmiento, Ignacio J. Keller; Mencacci, Niccolo E.; Lubbe, Steven J.; Kurian, Manju A.; Clot, Fabienne; Meneret, Aurelie; Agathe, Jean-Madeleine de Sainte; Fung, Victor S. C.; Vidailhet, Marie; Baumann, Matthias; Marquardt, Thorsten; Winkelmann, Juliane und Boesch, Sylvia
(2022):
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
In: Movement Disorders, Bd. 37, Nr. 1: S. 137-147
[PDF, 689kB]
2021
Monfrini, Edoardo; Zech, Michael; Steel, Dora; Kurian, Manju A.; Winkelmann, Juliane und Di Fonzo, Alessio
(2021):
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
In: Brain, Bd. 144: S. 2610-2615
[PDF, 494kB]
Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael und Skorvanek, Matej
(2021):
Recurrent VPS16 p.Arg187*Nonsense Variant in Early- Onset Generalized Dystonia.
In: Movement Disorders, Bd. 36, Nr. 8, 28647: S. 1984-1985
2020
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]
Kloeckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; Boogaard, Marie-Jose van den; Crabben, Saskia N. van der; Gassen, Koen L. I. van; Jaarsveld, Richard H. van; Ziffle, Jessica van; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R. und Platzer, Konrad
(2020):
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
In: Genetics in Medicine, Bd. 23, Nr. 4: S. 653-660
2018
Baker, Kate; Gordon, Sarah L.; Melland, Holly; Bumbak, Fabian; Scott, Daniel J.; Jiang, Tess J.; Owen, David; Turner, Bradley J.; Boyd, Stewart G.; Rossi, Mari; Al-Raqad, Mohammed; Elpeleg, Orly; Peck, Dawn; Mancini, Grazia M. S.; Wilke, Martina; Zollino, Marcella; Marangi, Giuseppe; Weigand, Heike; Borggraefe, Ingo; Haack, Tobias; Stark, Zornitza; Sadedin, Simon; Tan, Tiong Yang; Jiang, Yunyun; Gibbs, Richard A.; Ellingwood, Sara; Amaral, Michelle; Kelley, Whitley; Kurian, Manju A.; Cousin, Michael A. und Raymond, F. Lucy
(2018):
SYT1-associated neurodevelopmental disorder: a case series.
In: Brain, Bd. 141: S. 2576-2591
2017
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
2016
Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J. und Klopstock, Thomas
(2016):
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 735-743