학술논문
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'학술논문'
에서 검색결과 34건 | 목록
1~20
Academic Journal
Dennis T. Famili; Gehad Elghazali; Emanuela Argili; Russell P. Saneto; Michael Harris; Oleg Gerasimenko; Julia Gerasimenko; Manolis Fanto; Hormos Salimi Dafsari; Heinz Jungbluth
Molecular Genetics and Metabolism Reports, Vol 45, Iss , Pp 101273- (2025)
Academic Journal
Hormos Salimi Dafsari; Juliane Schuler; Emil Schober; Birk Möller; Adam Antebi; Manolis Fanto; Heinz Jungbluth
Autophagy Reports, Vol 4, Iss 1 (2025)
Academic Journal
Hormos Salimi Dafsari; Joshua G. Pemberton; Elizabeth A. Ferrer; Tony Yammine; Chantal Farra; Mohammad Hasan Mohammadi; Ehsan Ghayoor Karimiani; Narges Hashemi; Mirna Souaid; Sandra Sabbagh; Paria Najarzadeh Torbati; Suliman Khan; Emmanuel Roze; Andres Moreno‐De‐Luca; Aida M. Bertoli‐Avella; Henry Houlden; Tamas Balla; Reza Maroofian
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1345-1358 (2022)
Academic Journal
Children, Vol 10, Iss 10, p 1598 (2023)
Academic Journal
Hormos Salimi Dafsari; Nur Mehpare Kocaturk; Hülya-Sevcan Daimagüler; Anna Brunn; Jörg Dötsch; Joachim Weis; Martina Deckert; Sebahattin Cirak
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-5 (2019)
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
Sarah M. Brooker; Maria Novelli; Robert Coukos; Neha Prakash; Walaa A. Kamel; Marta Amengual‐Gual; Mathieu Anheim; Giulia Barcia; Tanya Bardakjian; Franciska Baur; Steffen Berweck; Bigna K. Bölsterli; Melanie Brugger; Thomas Cassini; Nicolas Chatron; Brian Corner; Hormos Salimi Dafsari; Jean‐Madeleine de Sainte Agathe; Colin A. Ellis; Kimberly M. Ezell; Cendrine Foucard; Steven J. Frucht; Maria C. Garcia; Deepak Gill; Anne Guimier; Rizwan Hamid; Damià Heine‐Suñer; Peter Herkenrath; Marie Hully; Ioannis U. Isaias; Louis Januel; Chloe Laurencin; Taylor Laut; Alinoe Lavillaureix; Gaetan Lesca; Marion Lesieur‐Sebellin; Luca Magistrelli; Cecilia Marelli; Heather C. Mefford; Bryce A. Mendelsohn; Saadet Mercimek‐Andrews; Claire Miller; Shekeeb S. Mohammad; Francesca Morgante; Sirisha Nandipati; Thomas Opladen; Mahesh Padmanaban; Micaela Pauni; Gianni Pezzoli; Amelie Piton; Francis Ramond; Giulietta M. Riboldi; Christelle Rougeot‐Jung; Fernando Santos‐Simarro; Ingrid E. Scheffer; Naoual Serari; Christine M. Stahl; Ann Stembridge Kung; Susana Tarongí Sanchez; Christel Thauvin‐Robinet; Marianne Till; Christine Tranchant; Christopher Troedson; Thomas F. Tropea; Olivier Vanakker; Patricia Vega; Maxi Leona Wiese; Udo Wieshmann; Laura J. Williams; Thomas Wirth; Michael Zech; Hans Zempel; Emmanuel Roze; Vincenzo Leuzzi; Serena Galosi; Victor S. C. Fung; Gemma Carvill; Dimitri Krainc; Elizabeth Gerard; Niccolò E. Mencacci
Ann Neurol
Academic Journal
Celine Deneubourg; Hormos Salimi Dafsari; Simon Lowe; Aitana Martinez-Cotrina; David Mazaud; Seo Hyun Park; Virginia Vergani; Amanda Almacellas Barbanoj; Reza Maroofian; Luisa Averdunk; Ehsan Ghayoor-Karimiani; Sandeep Jayawant; Cyril Mignot; Boris Keren; Renate Peters; Arveen Kamath; Lauren Mattas; Sumit Verma; Arpana Silwal; Felix Distelmaier; Henry Houlden; Gabriele Lignani; Adam Antebi; James Jepson; Heinz Jungbluth; Manolis Fanto
Autophagy
Fanto, M 2024, ' Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and vici syndrome patients ', Autophagy . https://doi.org/10.1080/15548627.2024.2405956
Fanto, M 2024, ' Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and vici syndrome patients ', Autophagy . https://doi.org/10.1080/15548627.2024.2405956
Academic Journal
Yuji Nakamura; Issei S Shimada; Reza Maroofian; Micol Falabella; Maha S Zaki; Masanori Fujimoto; Emi Sato; Hiroshi Takase; Shiho Aoki; Akihiko Miyauchi; Eriko Koshimizu; Satoko Miyatake; Yuko Arioka; Mizuki Honda; Takayoshi Higashi; Fuyuki Miya; Yukimune Okubo; Isamu Ogawa; Annarita Scardamaglia; Mohammad Miryounesi; Sahar Alijanpour; Farzad Ahmadabadi; Peter Herkenrath; Hormos Salimi Dafsari; Clara Velmans; Mohammed Al Balwi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Médéric Jeanne; Antoine Civit; Mohamed S Abdel-Hamid; Hamed Naderi; Hossein Darvish; Somayeh Bakhtiari; Michael C Kruer; Christopher J Carroll; Ehsan Ghayoor Karimiani; Rozhgar A Khailany; Talib Adil Abdulqadir; Mehmet Ozaslan; Peter Bauer; Giovanni Zifarelli; Tahere Seifi; Mina Zamani; Chadi Al Alam; Javeria Raza Alvi; Tipu Sultan; Stephanie Efthymiou; Simon A S Pope; Kazuhiro Haginoya; Tamihide Matsunaga; Hitoshi Osaka; Naomichi Matsumoto; Norio Ozaki; Yasuyuki Ohkawa; Shinya Oki; Tatsuhiko Tsunoda; Robert D S Pitceathly; Yoshitaka Taketomi; Henry Houlden; Makoto Murakami; Yoichi Kato; Shinji Saitoh
Brain
Academic Journal
Birk Möller; Lena-Luise Becker; Afshin Saffari; Alexandra Afenjar; Emanuele G Coci; Rachel Williamson; Catherine Ward-Melver; Marc Gibaud; Lucie Sedláčková; Petra Laššuthová; Zuzana Libá; Markéta Vlčková; Nancy William; Eric W Klee; Ralitza H Gavrilova; Jonathan Lévy; Yline Capri; Mena Scavina; Robert Walter Körner; Zaheer Valivullah; Claudia Weiß; Greta Marit Möller; Zoë Frazier; Amy Roberts; Blanca Gener; Marcello Scala; Pasquale Striano; Federico Zara; Moritz Thiel; Margje Sinnema; Erik-Jan Kamsteeg; Sandra Donkervoort; Veronique Duboc; Khaoula Zaafrane-Khachnaoui; Nour Elkhateeb; Laila Selim; Henri Margot; Victor Marin; Claire Beneteau; Bertrand Isidor; Benjamin Cogne; Boris Keren; Benno Küsters; Alan H Beggs; Abigail Sveden; Maya Chopra; Casie A Genetti; Joost Nicolai; Jörg Dötsch; Anne Koy; Carsten G Bönnemann; Maja von der Hagen; Jürgen-Christoph von Kleist-Retzow; Nicol C Voermans; Heinz Jungbluth; Hormos Salimi Dafsari
Brain
Brain, 148, 2, pp. 597-612
Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M, Frazier, Z, Roberts, A, Gener, B, Scala, M, Striano, P, Zara, F, Thiel, M, Sinnema, M, Kamsteeg, E J, Donkervoort, S, Duboc, V, Zaafrane-Khachnaoui, K, Elkhateeb, N, Selim, L, Margot, H, Marin, V, Beneteau, C, Isidor, B, Cogne, B, Keren, B, Küsters, B, Beggs, A H, Sveden, A, Chopra, M, Genetti, C A, Nicolai, J, Dötsch, J, Koy, A, Bönnemann, C G, von der Hagen, M, von Kleist-Retzow, J C, Voermans, N C, Jungbluth, H & Dafsari, H S 2025, 'The expanding clinical and genetic spectrum of DYNC1H1-related disorders', Brain, vol. 148, no. 2, pp. 597-612. https://doi.org/10.1093/brain/awae183
Brain, 148, 2, pp. 597-612
Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M, Frazier, Z, Roberts, A, Gener, B, Scala, M, Striano, P, Zara, F, Thiel, M, Sinnema, M, Kamsteeg, E J, Donkervoort, S, Duboc, V, Zaafrane-Khachnaoui, K, Elkhateeb, N, Selim, L, Margot, H, Marin, V, Beneteau, C, Isidor, B, Cogne, B, Keren, B, Küsters, B, Beggs, A H, Sveden, A, Chopra, M, Genetti, C A, Nicolai, J, Dötsch, J, Koy, A, Bönnemann, C G, von der Hagen, M, von Kleist-Retzow, J C, Voermans, N C, Jungbluth, H & Dafsari, H S 2025, 'The expanding clinical and genetic spectrum of DYNC1H1-related disorders', Brain, vol. 148, no. 2, pp. 597-612. https://doi.org/10.1093/brain/awae183
Academic Journal
Mohammed Almannai; Dana Marafi; Maha S. Zaki; Reza Maroofian; Stephanie Efthymiou; Nebal Waill Saadi; Bilal Filimban; Hormos Salimi Dafsari; Fatima Rahman; Shazia Maqbool; Eissa Faqeih; Fuad Al Mutairi; Hind Alsharhan; Omar Abdelaty; Saadoun Bin‐Hasan; Ruizhi Duan; Mahmoud M. Noureldeen; Alaa Alqattan; Henry Houlden; Jill V. Hunter; Jennifer E. Posey; James R. Lupski; Ayman W. El‐Hattab
Clinical Genetics. 105:620-629
Academic Journal
Hormos Salimi Dafsari; Diego Martinelli; Afshin Saffari; Darius Ebrahimi‐Fakhari; Manolis Fanto; Carlo Dionisi‐Vici; Heinz Jungbluth
J Inherit Metab Dis
Academic Journal
David Cheerie; Margaret Meserve; Danique Beijer; Charu Kaiwar; Logan Newton; Ana Lisa Taylor Tavares; Aubrie Soucy Verran; Emma Sherrill; Stefanie Leonard; Stephan J. Sanders; Emily Blake; Nour Elkhateeb; Aastha Gandhi; Nicole S. Y. Liang; Jack T. Morgan; Anna Verwillow; Jan Verheijen; Andrew Giles; Sean Williams; Maya Chopra; Laura Croft; Hormos Salimi Dafsari; Alice E. Davidson; Jennifer Friedman; Anne Gregor; Bushra Haque; Rosan Lechner; Kylie-Ann Montgomery; Mina Ryten; Emil Schober; Gabriele Siegel; Patricia Sullivan; Bianca Zardetto; Timothy Yu; Matthis Synofzik; Annemieke Aartsma-Rus; Gregory Costain; Marlen C. Lauffer
medRxiv
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 Alvares; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony 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; Carrie 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; Hannah 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; Saeedeh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; 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 Lander; Tania Attié-Bitach; Pauline Marzin; Dorota Wicher; Jessica I Gold; Mariana H G Monje; Dimitri Krainc; Niccolò Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen-Christoph von Kleist-Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Carlo Dionisi-Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Academic Journal
Celine Deneubourg; Hormos Salimi Dafsari; Simon Lowe; Aitana Martinez-Cotrina; David Mazaud; Seo Hyun Park; Virginia Vergani; Reza Maroofian; Luisa Averdunk; Ehsan Ghayoor-Karimiani; Sandeep Jayawant; Cyril Mignot; Boris Keren; Renate Peters; Arveen Kamath; Lauren Mattas; Sumit Verma; Arpana Silwal; Felix Distelmaier; Henry Houlden; Adam Antebi; James Jepson; Heinz Jungbluth; Manolis Fanto
Academic Journal
Nurettin Bayram; Ayşe Kaçar Bayram; Hülya-Sevcan Daimagüler; Hormos Salimi Dafsari; Daniel Bamborschke; Gökhan Uyanik; Murat Erdogan; Cemal Özsaygılı; Emine Pangal; İsa Yuvaci; Selim Doğanay; Hakan Gümüş; Hüseyin Per; Heinz Jungbluth; Sebahattin Çırak
European Journal of Ophthalmology. 32:NP92-NP97
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