학술논문
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'학술논문'
에서 검색결과 16건 | 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
Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K
Neurology
e213644
United States
e213644
United States
Academic Journal
Moritz Thiel; Daniel Bamborschke; Wibke G. Janzarik; Birgit Assmann; Simone Zittel; Steffi Patzer; Andrea Auhuber; Joachim Opp; Eva Matzker; Andrea Bevot; Juergen Seeger; Andreas van Baalen; Burkhard Stüve; Knut Brockmann; Sebahattin Cirak; Anne Koy
Journal of Neurology, Neurosurgery & Psychiatry. 94:806-815
Academic Journal
Annegret Quade; Kevin Rostasy; Ronny Wickström; Ömer Faruk Aydin; Stefano Sartori; Margherita Nosadini; Ellen Knierim; Gerhard Kluger; Rudolf Korinthenberg; Burkhard Stüve; Stephan Waltz; Steffen Leiz; Martin Häusler
Neuropediatrics. 54:014-019
Academic Journal
Astrid Pechmann; Max Behrens; Katharina Dörnbrack; Adrian Tassoni; Sabine Stein; Sibylle Vogt; Daniela Zöller; Günther Bernert; Tim Hagenacker; Ulrike Schara-Schmidt; Inge Schwersenz; Maggie C Walter; Matthias Baumann; Manuela Baumgartner; Marcus Deschauer; Astrid Eisenkölbl; Marina Flotats-Bastardas; Andreas Hahn; Veronka Horber; Ralf A Husain; Sabine Illsinger; Jessika Johannsen; Cornelia Köhler; Heike Kölbel; Monika Müller; Arpad von Moers; Kurt Schlachter; Gudrun Schreiber; Oliver Schwartz; Martin Smitka; Elisabeth Steiner; Eva Stögmann; Regina Trollmann; Katharina Vill; Claudia Weiß; Gert Wiegand; Andreas Ziegler; Hanns Lochmüller; Janbernd Kirschner; Thea Beatrice Abele; Barbara Andres; Daniela Angelova-Toshkina; Petra Baum; Tobias Baum; Ute Baur; Benedikt Becker; Bettina Behring; Theresa Birsak; Julia Bellut; Astrid Bertsche; Markus Blankenburg; Astrid Blaschek; Nathalie Braun; Sarah Braun; Nadine Burgenmeister; Nicole Claus; Isabell Cordts; Heike de Vries; Timo Deba; Adela Della Marina; Jonas Denecke; Joenna Driemeyer; Matthias Eckenweiler; Barbara Fiedler; Michal Fischer; Maren Freigang; Johannes Friese; Philippa Gaiser; Axel Gebert; Stephanie Geitmann; Klaus Goldhahn; Michael Grässl; Kristina Gröning; Julian Grosskreutz; Ursula Gruber-Sedlmayr; Helene Guillemot; René Günther; Maja von der Hagen; Hans Hartmann; Miriam Hiebeler; Elke Hobbiebrunken; Georg Friedrich Hoffmann; Britta Holtkamp; Dorothea Holzwarth; Eva Jansen; Angela Kaindl; Nadja Kaiser; Jennifer Klamroth; Jan Christoph Koch; Stefan Koelker; Kirsten Kolzter; Brigitte Korschinsky; Hanna Küpper; Thorsten Langer; Ilka Lehnert; Paul Lingor; Wolfgang N Löscher; Dana Loudovici-Krug; Kyriakos Martakis; Iris Mayer; Moritz Metelmann; Sascha Meyer; Katharina Mueller-Kaempffer; Petra Müller; Wolfgang Müller-Felber; Christoph Neuwirth; Johanna Niederschweiberer; Anja Nolte; Thorsten Odorfer; Heymut Omran; Josefine Pauschek; Katrin Pickrodt; Barbara Plecko; Manuel Pühringer; Anna Lisa Quinten; Mika Rappold; Christof Reihle; Tabea Reinhardt; Annekathrin Rödiger; Gerda Roetmann; Afshin Saffari; Mareike Schimmel; Joanna Schneider; Christoph Schoene-Bake; David Schorling; Anette Schwerin-Nagel; Robert Steinbach; Daniela Steuernagel; Benjamin Stolte; Corinna Stoltenburg; Burkhard Stüve; Manuela Theophil; Simone Thiele; Raffi Topakian; Matthias Türk; Lieske van der Stam; Peter Vollmann; Birgit Warken; Markus Weber; Markus Weiler; Deike Weiss; Simone Weiss; Franziska Wenzel; Sabine Wider; Nils Wiebe; Ekkehard Wilichowski; Bernd Wilken; Katarzyna Wochner; Fiona Zeiner; Daniela Zeisler; Daniel Zeller; Michael Zemlin
Brain. 146:668-677
Academic Journal
Gangfuß, Andrea; Hentschel, Andreas; Rademacher, Nina; Sickmann, Albert; Stüve, Burkhard; Horvath, Rita; Gross, Claudia; Kohlschmidt, Nicolai; Förster, Fabian; Abicht, Angela; Schänzer, Anne; Schara-Schmidt, Ulrike; Roos, Andreas; Della Marina, Adela
Human Mutation. 43:477-486
Academic Journal
Peng Zhang; Aurélie Cobat; Yoon-Seung Lee; Yiming Wu; Cigdem Sevim Bayrak; Clémentine Boccon-Gibod; Daniela Matuozzo; Lazaro Lorenzo; Aayushee Jain; Soraya Boucherit; Louis Vallée; Burkhard Stüve; Stéphane Chabrier; Jean-Laurent Casanova; Laurent Abel; Shen-Ying Zhang; Yuval Itan
The American Journal of Human Genetics. 108:1012-1025
Academic Journal
Johannes Hebebrand; Jochen Antel; Linda von Piechowski; Cordula Kiewert; Burkhard Stüve; Gertraud Gradl-Dietsch
Front Psychiatry
Frontiers in Psychiatry, Vol 14 (2023)
Frontiers in Psychiatry, Vol 14 (2023)
Academic Journal
Anezka Belohlavkova; Katalin Sterbova; Cornelia Betzler; Stuve Burkhard; Axel Panzer; Markus Wolff; Petra Lassuthova; Marketa Vlckova; Martin Kyncl; Barbora Benova; Alena Jahodova; Martin Kudr; Maria Goerg; Petr Dusek; Pavel Seeman; Gerhard Kluger; Pavel Krsek
European Journal of Paediatric Neurology. 28:81-88
Academic Journal
Olga Ciccarelli; Jeffrey A Cohen; Stephen C Reingold; Brian G Weinshenker; Maria Pia Amato; Brenda Banwell; Frederik Barkhof; Bruce Bebo; Burkhard Becher; François Bethoux; Alexander Brandt; Wallace Brownlee; Peter Calabresi; Jeremy Chatway; Claudia Chien; Tanuja Chitnis; Jeffrey Cohen; Giancarlo Comi; Jorge Correale; Jerome De Sèze; Nicola De Stefano; Franz Fazekas; Eoin Flanagan; Mark Freedman; Kazuo Fujihara; Steven Galetta; Myla Goldman; Benjamin Greenberg; Hans-Peter Hartung; Bernhard Hemmer; Anke Henning; Izlem Izbudak; Ludwig Kappos; Hans Lassmann; Cornelia Laule; Michael Levy; Fred Lublin; Claudia Lucchinetti; Carsten Lukas; Ruth Ann Marrie; Aaron Miller; David Miller; Xavier Montalban; Ellen Mowry; Sebastien Ourselin; Friedemann Paul; Daniel Pelletier; Jean-Philippe Ranjeva; Daniel Reich; Stephen Reingold; Maria Assunta Rocca; Alex Rovira; Regina Schlaerger; Per Soelberg Sorensen; Maria Sormani; Olaf Stuve; Alan Thompson; Mar Tintoré; Anthony Traboulsee; Bruce Trapp; Maria Trojano; Bernard Uitdehaag; Sandra Vukusic; Emmanuelle Waubant; Brian Weinshenker; Claudia Gandini Wheeler-Kingshott; Junqian Xu
The Lancet Neurology. 18:185-197
Academic Journal
Pechmann, Astrid; Baumann, Matthias; Bernert, Günther; Flotats-Bastardas, Marina; Gruber-Sedlmayr, Ursula; von der Hagen, Maja; Hasselmann, Oswald; Hobbiebrunken, Elke; Horber, Veronka; Johannsen, Jessika; Kellersmann, Anna; Köhler, Cornelia; von Moers, Arpad; Müller-Felber, Wolfgang; Plecko, Barbara; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stoltenburg, Corinna; Stüve, Burkhard; Theophil, Manuela; Weiß, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Winter, Benedikt; Wittmann, Wolfgang; Schara, Ulrike; Kirschner, Janbernd
Journal of Neuromuscular Diseases. 7:41-46
Academic Journal
Koy, Anne; Cirak, Sebahattin; Gonzalez, Victoria; Becker, Kerstin; Roujeau, Thomas; Milesi, Christophe; Baleine, Julien; Cambonie, Gilles; Boularan, Alain; Greco, Frederic; Perrigault, Pierre-Francois; Cances, Claude; Dorison, Nathalie; Doummar, Diane; Roubertie, Agathe; Beroud, Christophe; Körber, Friederike; Stüve, Burkhard; Waltz, Stephan; Mignot, Cyril; Nava, Caroline; Maarouf, Mohammad; Coubes, Philippe; Cif, Laura
Journal of the Neurological Sciences. 391:31-39
Academic Journal
Zaum, Ann-Kathrin; Stüve, Burkhard; Gehrig, Andrea; Kölbel, Heike; Schara, Ulrike; Kress, Wolfram; Rost, Simone
Neuromuscular Disorders. 27:631-634
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
Academic Journal
Kerstin, Hallmann; Alexei P, Kudin; Gábor, Zsurka; Cornelia, Kornblum; Jens, Reimann; Burkhard, Stüve; Stephan, Waltz; Elke, Hattingen; Holger, Thiele; Peter, Nürnberg; Cornelia, Rüb; Wolfgang, Voos; Jens, Kopatz; Harald, Neumann; Wolfram S, Kunz
Brain. 139:338-345
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
Academic Journal
Hallmann, Kerstin; Kudin, Alexei P.; Zsurka, Gábor; Kornblum, Cornelia; Reimann, Jens; Stüve, Burkhard; Waltz, Stephan; Hattingen, Elke; Thiele, Holger; Nürnberg, Peter; Rüb, Cornelia; Voos, Wolfgang; Kopatz, Jens; Neumann, Harald; Kunz, Wolfram S.
Brain. Feb 01, 2016 139(2):338-345
Academic Journal
Belohlavkova, Anezka; Sterbova, Katalin; Betzler, Cornelia; Burkhard, Stuve; Panzer, Axel; Wolff, Markus; Lassuthova, Petra; Vlckova, Marketa; Kyncl, Martin; Benova, Barbora; Jahodova, Alena; Kudr, Martin; Goerg, Maria; Dusek, Petr; Seeman, Pavel; Kluger, Gerhard; Krsek, Pavel
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