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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]
Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J.
(2020):
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
In: Science Advances, Bd. 6, Nr. 49, eabc9207
[PDF, 703kB]