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Anzahl der Publikationen: 2
Zeitschriftenartikel
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]
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]