학술논문
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'학술논문'
에서 검색결과 620건 | 목록
1~20
Academic Journal
Hormos Salimi Dafsari; Celine Deneubourg; Kritarth Singh; Reza Maroofian; Zita Suprenant; Ay Lin Kho; Neil J Ingham; Karen P Steel; Preethi Sheshadri; Franciska Baur; Lea Hentrich; Birgit Gerisch; Mina Zamani; Cesar Alves; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony E. Lang; Michael Harris; Alice Abdelaleem; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Alireza Sedaghat; Jawaher Zeighami; Daniel Calame; Dana Marafi; Ruizhi Duan; Adrian Boehnke; Gary D. Clark; Jill A. Rosenfeld; Carrie A. Mohila; Dora Steel; Saurabh Chopra; Suvasini Sharma; Nicolai Kohlschmidt; Steffi Patzer; Afshin Saffari; Darius Ebrahimi‐Fakhari; Büşra Eser Çavdartepe; Irene J Chang; Erika Beckman; Renate Peters; Andrew Paul Fennell; Bernice Lo; Luisa Averdunk; Felix Distelmaier; Martina Baethmann; Frances Elmslie; Kairit Joost; Sheela Nampoothiri; Dhanya Yesodharan; Hanna Mandel; Amy Kimball; Antonie D. Kline; Cyril Mignot; Boris Keren; Vincent Laugel; Katrin Õunap; Kalpana Devadathan; Frederique M.C. van Berkestijn; Arpana Silwal; Saskia Koene; Sumit Verma; Mohammed Yousuf Karim; Chahynez Boubidi; Majid Aziz; Gehad ElGhazali; Lauren Mattas; Mohammad Miryounesi; Farzad Hashemi‐Gorji; Shahryar Alavi; Nayereh Nouri; Mehrdad Noruzinia; Saeideh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; Madeleine Joubert; Claire Beneteau; Kyra E. Stuurman; Martina Wilke; Tahsin Stefan Barakat; Homa Tajsharghi; Annarita Scardamaglia; Sadeq Vallian; Semra Hız; Ali Shoeibi; Reza Boostani; Narges Hashemi; Meisam Babaei; Norah Saleh Alsaleh; Julie Porter; Tania Attié‐Bitach; Pauline Marzin; Dorota Wicher; Jessica I. Gold; Elisabeth Schuler; Amna Kashgari; Rakan F. Alanazi; Wafaa Eyaid; Marc Engelen; Mirjam Langeveld; Burkhard Stüve; Yun Li; Gökhan Yigit; Bernd Wollnik; Mariana H.G Monje; Dimitri Krainc; Niccolò E. Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Giovanni Zifarelli; Peter Bauer; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen‐Christoph von Kleist‐Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Rita Carsetti; Carlo Dionisi‐Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Dafsari, H S, Deneubourg, C, Singh, K, Maroofian, R, Suprenant, Z, Kho, A L, Ingham, N J, Steel, K P, Sheshadri, P, Baur, F, Hentrich, L, Gerisch, B, Zamani, M, Alves, C, Siddiqui, A, Dafsari, H S, Salari, M, Lang, A E, Harris, M, Abdelaleem, A, Sadeghian, S, Azizimalamiri, R, Galehdari, H, Shariati, G, Sedaghat, A, Zeighami, J, Calame, D, Marafi, D, Duan, R, Boehnke, A, Clark, G D, Rosenfeld, J A, Mohila, C A, Steel, D, Chopra, S, Sharma, S, Kohlschmidt, N, Patzer, S, Saffari, A, Ebrahimi -Fakhari , D, Çavdartepe, B E, Chang, I J, Beckman, E, Peters, R, Fennell, A P, Lo, B, Averdunk, L, Distelmaier, F, Baethmann, M, Elmslie, F, Joost, K, Nampoothiri, S, Yesodharan, D, Mandel, H, Kimball, A, Kline, A D, Mignot, C, Keren, B, Laugel, V, Õunap, K, Devadathan, K, van Berkestijn, F M C, Silwal, A, Koene, S, Verma, S, Karim, M Y, Boubidi, C, Aziz, M, ElGhazali, G, Mattas, L, Miryounesi, M, Hashemi-Gorji, F, Alavi, S, Nouri, N, Noruzinia, M, Kavousi, S, Kamath, A, Jayawant, S, Saneto, R, Haridy, N A, Kart, P O, Cansu, A, Joubert, M, Beneteau, C, Stuurman, K E, Wilke, M, Barakat, T S, Tajsharghi, H, Scardamaglia, A, Vallian, S, Hız, S, Shoeibi, A, Boostani, R, Hashemi, N, Babaei, M, Alsaleh, N S, Porter, J, Attié-Bitach, T, Marzin, P, Wicher, D, Gold, J I, Schuler, E, Kashgari, A, Alanazi, R F, Eyaid, W, Engelen, M, Langeveld, M, Stüve, B, Li, Y, Yigit, G, Wollnik, B, Monje, M H G, Krainc, D, Mencacci, N E, Bakhtiari, S, Kruer, M, Argilli, E, Sherr, E, Jamshidi, Y, Karimiani, E G, Cheung, Y W S, Karin, I, Zifarelli, G, Bauer, P, Chung, W K, Lupski, J R, Kurian, M A, Dötsch, J, von Kleist-Retzow, J-C, Klopstock, T, Wagner, M, Yip, C, Roos, A, Carsetti, R, Dionisi-Vici, C, Gautel, M, Duchen, M R, Antebi, A, Houlden, H, Fanto, M & Jungbluth, H 2025, 'Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism', Annals of Neurology, vol. 98, no. 5, pp. 932-950. https://doi.org/10.1002/ana.78013
Academic Journal
Schmidt, Henri J.D.; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Carty, Siofra; Quiroz, Vicente; Yang, Kathryn; Zaman, Zainab; Schierbaum, Luca; Bernardi, Katerina; Alecu, Julian E.; Ebrahimi‐Fakhari, Darius
Annals of Clinical and Translational Neurology. January 10, 2026, Vol. 13 Issue 1, p193, 7 p.
Academic Journal
Alexandra K. Brooks; Vicente Quiroz; Luca Schierbaum; Julian E. Alecu; Katerina Bernardi; Nicole Battaglia; Amy Tam; Joshua Rong; Gregor Kasprian; Edward Yang; Darius Ebrahimi‐Fakhari
Annals of the Child Neurology Society. 3:226-231
Academic Journal
Eun Hye Lee; Olivia Kim‐Mcmanus; Jennifer H. Yang; Richard Haas; Maha S. Zaki; Ghada M. H. Abdel‐Salam; Yuji Nakamura; Mohamed S. Abdel‐Hamind; Darius Ebrahimi‐Fakhari; Julian E. Alecu; Nicola Brunetti‐Pierri; Varunvenkat M. Srinivasan; Vykuntaraju K. Gowda; Stephanie Gross; Yasemin Alanay; Paria Najarzadeh Totbati; Manya Yadavilli; Liana Friedman; Naomi Meave Ojeda; Joseph G. Gleeson
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 12, Iss 7, Pp 1360-1367 (2025)
Annals of Clinical and Translational Neurology, vol 12, iss 7
Annals of Clinical and Translational Neurology, Vol 12, Iss 7, Pp 1360-1367 (2025)
Annals of Clinical and Translational Neurology, vol 12, iss 7
Academic Journal
Gitika Thakur; Rutuja Dhanukate; Yongchao Mou; Priya Kunhiraman; Archana Khadilkar; Siddharth Srivastava; Julian E. Alecu; Darius Ebrahimi-Fakhari; Zhenyu Chen; Craig Blackstone; Xue-Jun Li
Acta Neuropathologica Communications, Vol 13, Iss 1, Pp 1-17 (2025)
Academic Journal
Arjun Balachandar; Leonard H. Verhey; Karim Mithani; Hrishikesh Suresh; Elizabeth N. Kerr; Sara C. Breitbart; Fay Kisteroff; MyLoi Huynh; Alfonso Fasano; Darius Ebrahimi-Fakhari; Kathryn Yang; Marcella Ruppert-Gomez; Scellig S.D. Stone; Weston Northam; Nisha Gadgil; Jeffrey S. Raskin; Alexander Weil; Aristides Hadjinicolaou; Inge A. Meijer; Christian Iorio-Morin; Carolina Gorodetsky; George M. Ibrahim
Neurology. 105
Academic Journal
Movement Disorders Clinical Practice.
Academic Journal
Vicente Quiroz; Umar Zubair; Luca Schierbaum; Amy Tam; Nicole Battaglia; Joshua Rong; Habibah A. P. Agianda; Julian E. Alecu; Kathryn Yang; Darius Ebrahimi‐Fakhari
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 12, Iss 4, Pp 851-854 (2025)
Annals of Clinical and Translational Neurology, Vol 12, Iss 4, Pp 851-854 (2025)
Academic Journal
Umar Zubair; Kathryn Yang; Luca Schierbaum; Amy Tam; Nicole Battaglia; Joshua Rong; Vicente Quiroz; Darius Ebrahimi‐Fakhari
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 12, Iss 2, Pp 448-451 (2025)
Annals of Clinical and Translational Neurology, Vol 12, Iss 2, Pp 448-451 (2025)
Academic Journal
Balachandar, Arjun; Verhey, Leonard H.; Mithani, Karim; Suresh, Hrishikesh; Kerr, Elizabeth N.; Breitbart, Sara C.; Kisteroff, Fay; Huynh, MyLoi; Fasano, Alfonso; Ebrahimi-Fakhari, Darius; Yang, Kathryn; Ruppert-Gomez, Marcella; Stone, Scellig S.D.; Northam, Weston; Gadgil, Nisha; Raskin, Jeffrey S.; Weil, Alexander; Hadjinicolaou, Aristides; Meijer, Inge A.; Iorio-Morin, Christian; Gorodetsky, Carolina; Ibrahim, George M.
Neurology. Oct 10, 2025 105(9)
Academic Journal
Alexandra K. Brooks; Vicente Quiroz; Luca Schierbaum; Amy Tam; Julian E. Alecu; Darius Ebrahimi‐Fakhari
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 12, Iss 3, Pp 648-652 (2025)
Annals of Clinical and Translational Neurology, Vol 12, Iss 3, Pp 648-652 (2025)
Academic Journal
Habibah A.P. Agianda; Amy Tam; Avaneesh Kunta; Umar Zubair; Afshin Saffari; Joshua Rong; Michelle Crough; Rasha Srouji; Vicente Quiroz; Kathryn Yang; Luca Schierbaum; Darius Ebrahimi‐Fakhari
Movement Disorders Clinical Practice. 12:533-536
Academic Journal
Mov Disord Clin Pract
Academic Journal
Luca Schierbaum; Vicente Quiroz; Amy Tam; Umar Zubair; Laura Tochen; Rasha Srouji; Kathryn Yang; Darius Ebrahimi‐Fakhari
Mov Disord Clin Pract
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
Academic Journal
Jessica P Wiseman; Joseph M Scarrott; João Alves-Cruzeiro; Afshin Saffari; Cedric Böger; Evangelia Karyka; Emily Dawes; Alexandra K Davies; Paolo M Marchi; Emily Graves; Fiona Fernandes; Zih-Liang Yang; Ian Coldicott; Jennifer Hirst; Christopher P Webster; J Robin Highley; Neil Hackett; Adrienn Angyal; Thushan de Silva; Adrian Higginbottom; Pamela J Shaw; Laura Ferraiuolo; Darius Ebrahimi-Fakhari; Mimoun Azzouz
EMBO Mol Med
EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2882-2917 (2024)
Wiseman, J P, Scarrott, J M, Alves-Cruzeiro, J, Saffari, A, Böger, C, Karyka, E, Dawes, E, Davies, A K, Marchi, P M, Graves, E, Fernandes, F, Yang, Z-L, Coldicott, I, Hirst, J, Webster, C P, Highley, J R, Hackett, N, Angyal, A, de Silva, T, Higginbottom, A, Shaw, P J, Ferraiuolo, L,Ebrahimi -Fakhari , D & Azzouz, M 2024, ' Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47 ', EMBO Molecular Medicine . https://doi.org/10.1038/s44321-024-00148-5
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2882-2917 (2024)
Wiseman, J P, Scarrott, J M, Alves-Cruzeiro, J, Saffari, A, Böger, C, Karyka, E, Dawes, E, Davies, A K, Marchi, P M, Graves, E, Fernandes, F, Yang, Z-L, Coldicott, I, Hirst, J, Webster, C P, Highley, J R, Hackett, N, Angyal, A, de Silva, T, Higginbottom, A, Shaw, P J, Ferraiuolo, L,
EMBO Molecular Medicine
Academic Journal
Current Opinion in Pediatrics.
Academic Journal
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah, I; Bennett, James T.; Sahin, Mustafa
Brain. 143(10):2929-2944
Academic Journal
Kathryn Yang; Vicente Quiroz; Amy Tam; Rasha Srouji; Ximena Villanueva; Claudia Amarales; Darius Ebrahimi‐Fakhari
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 10, Pp 2805-2810 (2024)
Annals of Clinical and Translational Neurology, Vol 11, Iss 10, Pp 2805-2810 (2024)
Academic Journal
Novelli, Maria; Tolve, Manuela; Quiroz, Vicente; Carducci, Claudia; Bove, Rossella; Ricciardi, Giacomina; Yang, Kathryn; Manti, Filippo; Pisani, Francesco; Ebrahimi‐Fakhari, Darius; Galosi, Serena; Leuzzi, Vincenzo
Movement Disorders Clinical Practice. 11:1072-1084
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