학술논문
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'학술논문'
에서 검색결과 1,257건 | 목록
1~20
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features
Academic Journal
Christof Brücke; Mohammed Al-Azzani; Nagendran Ramalingam; Maria Ramón; Rita L. Sousa; Fiamma Buratti; Michael Zech; Kevin Sicking; Leslie Amaral; Ellen Gelpi; Aswathy Chandran; Aishwarya Agarwal; Susana R. Chaves; Claudio O. Fernández; Ulf Dettmer; Janin Lautenschläger; Markus Zweckstetter; Rubén Fernández-Busnadiego; Alexander Zimprich; Tiago Fleming Outeiro
Molecular Neurodegeneration, Vol 20, Iss 1, Pp 1-22 (2025)
Academic Journal
Omar Keritam; Philipp Haas; Sigrid Klotz; Kastriot Kastrati; Martin Krenn; Matias Wagner; Timothy Hasenoehrl; Rosa Weng; Gudrun Zulehner; Gregor Kasprian; Günther Regelsberger; Hans Kiener; Ellen Gelpi; Fritz Zimprich; Hakan Cetin; Thomas Scherer; Suren Jengojan
Journal of Neuromuscular Diseases.
Academic Journal
Marianela Schiava; Yolande Parkhurst; Matthew Henderson; Tuomo Polvikoski; Manouela V. Valtcheva; Ichizo Nishino; Michio Inoue; Yukako Nishimori; Yoshihiko Saito; Tanya Stojkovic; Rocio N. Villar-Quiles; Norma Beatriz Romero; Teresinha Evangelista; Edoardo Malfatti; Sarah Souvannanorath; Elena Pegoraro; Pietro Riguzzi; Mauro Monforte; Sara Bortolani; Eleonora Torchia; Mario Sabatelli; Giorgio Tasca; Volker Straub; Chiara Marini-Bettolo; Michela Guglieri; Hakan Cetin; Ellen Gelpi; Sigrid Klotz; Jan L. De Bleecker; Alicia Alonso-Jimenez; Jonathan Baets; Willem De Ridder; Peter De Jonghe; Kristl G. Claeys; Dietmar Rudolf Thal; Jorge A. Bevilacqua; Sushan Luo; Wenhua Zhu; Jie Lin; George Papadimas; Constantinos Papadopoulos; Eleni Zamba-Papanicolaou; Sophia Xirou; Endre Pal; Carmelo Rodolico; Anna Kostera-Pruszczyk; Biruta Kierdaszuk; Anna Kaminska; Nuria Muelas; Juan Jesus Vilchez; Cristina Domínguez-González; Aurelio Hernandez-Lain; Jorge Alonso-Perez; Velina Nedkova-Hristova; Carlos Aledo; Anders Oldfors; Umesh A. Badrising; Hani Kushlaf; Thomas E. Lloyd; Chiseko Ikenaga; Lindsay N. Alfano; Colin C. Quinn; David Walk; Matthias Vorgerd; Conrad Weihl; Montse Olivé; Jordi Diaz-Manera; Adolfo López de Munain; Alba Ramos-Fransi; Aleksandra Nadaj-Pakleza; Alicia Martinez-Piñeiro; Ana Töpf; Anna Mayhew; Anna Rydelius; Anthony Behin; Antonio Toscano; Beatrice Lannes; Beatriz Velez; Benedikt Schoser; Bjarne Udd; Boel De Paepe; Bruno Eymard; Carla Marco Cazcarra; Carmen Paradas; Carola Hedberg-Oldfors; Channa Hewamadduma; Cheryl Longman; Christopher Nance; Corinne Metay; David Hilton-Jones; Edmar Zanotelli; Elizabeth A. Harrington; Ellen Eline; Eloy Rivas; Francesc Miralles Morell; Gergious Manousakis; Gianni Sorarù; Giulia Bisogni; Giuseppe Lucente; Guillaume Bassez; Judith Hudson; Kate Taylor; Kinga Hadzsiev; Luca Bello; Maria Elena Farrugia; Marianne de Visser; Mario Campero; Marion Masingue; Marta Caballero-Ávila; Matthew B. Harms; Meredith James; Mónica Povedano; Monika Hofer; Natalia Garcia-Angarita; Nicholas Earle; Noemi Vidal Sarró; Pascal Lafôret; Pascale Richard; Paulo Victor Sgobbi Souza; Phillipa J. Lamont; Pilar Camaño; Raúl Domínguez Rubio; Robert Carlier; Robert Muni-Lofra; Roberto Fernández-Torrón; Rodrigo Alvarez; Rudi Kley; Sabine Krause; Sarah Leonard-Louis; Simone Thiele; Sruthi S. Nair; Stefen Brady; Stojan Peric; Stuart Ralston; Tiffany Grider; Timothy Williams; Vidosava Rakocevic-Stojanovic; Virginia Kimonis; William Kelly; Young-Eun Park; Zarife Sahenk
Neurol Genet
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
instname
Neurology : Genetics
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
instname
Neurology : Genetics
Periodical
Obesity, Fitness & Wellness Week. January 9, 2021, p3171
Editorial & Opinion
Kovacs, Gabor G.; Grinberg, Lea T.; Halliday, Glenda; Alafuzoff, Irina; Dugger, Brittany N.; Murayama, Shigeo; Forrest, Shelley L.; Martinez-Valbuena, Ivan; Tanaka, Hidetomo; Kon, Tomoya; Yoshida, Koji; Jaunmuktane, Zane; Spina, Salvatore; Nelson, Peter T.; Gentleman, Steve; Alegre-Abarrategui, Javier; Serrano, Geidy E.; Ribeiro Paes, Vitor; Takao, Masaki; Wakabayashi, Koichi; Uchihara, Toshiki; Yoshida, Mari; Saito, Yuko; Kofler, Julia; Diehl Rodriguez, Roberta; Gelpi, Ellen; Attems, Johannes; Crary, John F.; Seeley, William W.; Duda, John E.; Keene, C. Dirk; Woulfe, John; Munoz, David; Smith, Colin; Lee, Edward B.; Neumann, Manuela; White, Charles L.; Mckee, Ann C.; Thal, Dietmar R.; Jellinger, Kurt; Ghetti, Bernardino; Mackenzie, Ian R. A.; Dickson, Dennis W.; Beach, Thomas G.
Movement Disorders. 39(12):2173-2179
Academic Journal
Fahri Küçükali; Elizabeth Hill; Tijs Watzeels; Holger Hummerich; Tracy Campbell; Lee Darwent; Steven Collins; Christiane Stehmann; Gabor G Kovacs; Michael D Geschwind; Karl Frontzek; Herbert Budka; Ellen Gelpi; Adriano Aguzzi; Sven J van der Lee; Cornelia M van Duijn; Pawel P Liberski; Miguel Calero; Pascual Sanchez-Juan; Elodie Bouaziz-Amar; Jean-Louis Laplanche; Stéphane Haïk; Jean-Phillipe Brandel; Angela Mammana; Sabina Capellari; Anna Poleggi; Anna Ladogana; Dorina Tiple; Saima Zafar; Stephanie Booth; Gerard H Jansen; Aušrinė Areškevičiūtė; Eva Løbner Lund; Katie Glisic; Piero Parchi; Peter Hermann; Inga Zerr; Jiri Safar; Pierluigi Gambetti; Brian S Appleby; John Collinge; Kristel Sleegers; Simon Mead
Brain
Brain 148(9), 3350-3363 (2025). doi:10.1093/brain/awaf032
medRxiv
Küçükali, F, Hill, E, Watzeels, T, Hummerich, H, Campbell, T, Darwent, L, Collins, S, Stehmann, C, Kovacs, G G, Geschwind, M D, Frontzek, K, Budka, H,Gelpi , E, Aguzzi, A, van der Lee, S J, van Duijn, C M, Liberski, P P, Calero, M, Sanchez-Juan, P, Bouaziz-Amar, E, Laplanche, J-L, Haïk, S, Brandel, J-P, Mammana, A, Capellari, S, Poleggi, A, Ladogana, A, Tiple, D, Zafar, S, Booth, S, Jansen, G H, Areškevičiūtė, A, Lund, E L, Glisic, K, Parchi, P, Hermann, P, Zerr, I, Safar, J, Gambetti, P, Appleby, B S, Collinge, J, Sleegers, K & Mead, S 2025, ' Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes ', Brain : a journal of neurology, vol. 148, no. 9, pp. 3350-3363 . https://doi.org/10.1093/brain/awaf032
Brain 148(9), 3350-3363 (2025). doi:10.1093/brain/awaf032
medRxiv
Küçükali, F, Hill, E, Watzeels, T, Hummerich, H, Campbell, T, Darwent, L, Collins, S, Stehmann, C, Kovacs, G G, Geschwind, M D, Frontzek, K, Budka, H,
Academic Journal
Grimm, Max Joseph; Respondek, Gesine; Stamelou, Maria; Arzberger, Thomas; Ferguson, Leslie; Gelpi, Ellen; Giese, Armin; Grossman, Murray; Irwin, David J.; Pantelyat, Alexander; Rajput, Alex; Roeber, Sigrun; van Swieten, John C.; Troakes, Claire; Meissner, Wassilios G.; Nilsson, Christer; Piot, Ines; Compta, Yaroslau; Rowe, James B.; Höglinger, Günter U.
Movement Disorders. 35(12):2301-2313
Academic Journal
Victor U. Schmidbauer; Intesar-Victoria Malla Houech; Jakob Malik; Martin L. Watzenboeck; Rebecca Mittermaier; Patric Kienast; Christina Haberl; Ivana Pogledic; Christian Mitter; Gregor O. Dovjak; Astrid Krauskopf; Florian Prayer; Marlene Stuempflen; Tim Dorittke; Nikolai A. Gantner; Julia Binder; Dieter Bettelheim; Herbert Kiss; Christine Haberler; Ellen Gelpi; Daniela Prayer; Gregor Kasprian
AJNR Am J Neuroradiol
Academic Journal
Tandis Parvizi; Raphael Wurm; Theresa König; Sara Silvaieh; Patrick Altmann; Sigrid Klotz; Guenther Regelsberger; Tatjana Traub‐Weidinger; Ellen Gelpi; Elisabeth Stögmann
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 8, Pp 1988-1998 (2024)
Annals of Clinical and Translational Neurology, Vol 11, Iss 8, Pp 1988-1998 (2024)
Academic Journal
Mayà, Gerard, MD; Iranzo, Alex, MD; Gaig, Carles, MD; Sánchez-Valle, Raquel, MD; Serradell, Monica, BSc; Molina-Porcel, Laura, MD; Santamaria, Joan, MD; Gelpi, Ellen, MD; Aldecoa, Iban, MD
The Lancet Neurology. 23(12):1238-1251
Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation
Academic Journal
Tandis Parvizi; Sigrid Klotz; Omar Keritam; Haluk Caliskan; Sophie Imhof; Theresa König; Lukas Haider; Tatjana Traub‐Weidinger; Matias Wagner; Theresa Brunet; Melanie Brugger; Alexander Zimprich; Jakob Rath; Elisabeth Stögmann; Ellen Gelpi; Hakan Cetin
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
Ann. Clin. Transl. Neurol. 11, 1579-1589 (2024)
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
Ann. Clin. Transl. Neurol. 11, 1579-1589 (2024)
Academic Journal
Álvaro Carbayo; Sergi Borrego-Écija; Janina Turon-Sans; Elena Cortés-Vicente; Laura Molina-Porcel; Jordi Gascón-Bayarri; Miguel Ángel Rubio; Mónica Povedano; Josep Gámez; Javier Sotoca; Raúl Juntas-Morales; Miriam Almendrote; Marta Marquié; Raquel Sánchez-Valle; Ignacio Illán-Gala; Oriol Dols-Icardo; Sara Rubio-Guerra; Sara Bernal; Marta Caballero-Ávila; Ana Vesperinas; Ellen Gelpi; Ricard Rojas-García
Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Academic Journal
Brinkmann, Marie; Traby, Ludwig; Kussmann, Manuel; Weiss-Tessbach, Matthias; Buchtele, Nina; Staudinger, Thomas; Gaidoschik, Elias; Perkmann, Thomas; Haslacher, Helmuth; Ratzinger, Franz; Pickl, Winfried F.; El-Gedawi, Karim; Feichter, Melanie; Gelpi, Ellen; Höftberger, Romana; Quehenberger, Peter; Marculescu, Rodrig; Mrak, Daniel; Kastrati, Kastriot; Lechner-Radner, Helga; Sieghart, Daniela; Aletaha, Daniel; Winkler, Stefan; Bonelli, Michael; Göschl, Lisa
Clinical Immunology. 274
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features
Academic Journal
Christof Brücke; Mohammed Al-Azzani; Nagendran Ramalingam; Maria Ramón; Rita L. Sousa; Fiamma Buratti; Michael Zech; Kevin Sicking; Leslie Amaral; Ellen Gelpi; Aswathy Chandran; Aishwarya Agarwal; Susana R. Chaves; Claudio O. Fernández; Ulf Dettmer; Janin Lautenschläger; Markus Zweckstetter; Ruben Fernandez Busnadiego; Alexander Zimprich; Tiago Fleming Outeiro
Mol Neurodegener
medRxiv
medRxiv
Academic Journal
Kurt Farrell; Jack Humphrey; Timothy Chang; Yi Zhao; Yuk Yee Leung; Pavel P. Kuksa; Vishakha Patil; Wan-Ping Lee; Amanda B. Kuzma; Otto Valladares; Laura B. Cantwell; Hui Wang; Ashvin Ravi; Claudia De Sanctis; Natalia Han; Thomas D. Christie; Robina Afzal; Shrishtee Kandoi; Kristen Whitney; Margaret M. Krassner; Hadley Ressler; SoongHo Kim; Diana Dangoor; Megan A. Iida; Alicia Casella; Ruth H. Walker; Melissa J. Nirenberg; Alan E. Renton; Bergan Babrowicz; Giovanni Coppola; Towfique Raj; Günter U. Höglinger; Ulrich Müller; Lawrence I. Golbe; Huw R. Morris; John Hardy; Tamas Revesz; Tom T. Warner; Zane Jaunmuktane; Kin Y. Mok; Rosa Rademakers; Dennis W. Dickson; Owen A. Ross; Li-San Wang; Alison Goate; Gerard Schellenberg; Daniel H. Geschwind; Franziska Hopfner; Sigrun Roeber; Jochen Herms; Claire Troakes; Ellen Gelpi; Yaroslau Compta; John C. van Swieten; Alex Rajput; Fairlie Hinton; Justo García de Yebenes; John F. Crary; Adam Naj
Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Nature Communications 15(1), 7880 (2024). doi:10.1038/s41467-024-52025-x
Nature communications
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Nature Communications 15(1), 7880 (2024). doi:10.1038/s41467-024-52025-x
Nature communications
Academic Journal
Fazekas, Franziska; Haboosheh, Amit; Hennebichler, Bernhard; Roetzer-pejrimovsky, Thomas; Binder, Julia; Reischer, Theresa; Pfeifer, Mateja; Scharrer, Anke; Worda, Christof; Linder, Tina; Farr, Alex; Hoftberger, Romana; Gelpi, Ellen; Mitter, Christian; Kasprian, Gregor; Haberler, Christine; Amberg, Nicole
Academic Journal
Francesc Graus; Lidia Sabater; Carles Gaig; Ellen Gelpi; Alex Iranzo; Josep O. Dalmau; Joan Santamaria
Neurol Neuroimmunol Neuroinflamm
Academic Journal
Erro, Maria Elena; Zelaya, Maria Victoria; Erana, Hasier; de Gordoa, Javier Sanchez Ruiz; Garcia-amigot, Fermin; Simonovska-serra, Anika; Caballero, Maria Cristina; Ferrer, Isidre; Gelpi, Ellen; Jerico, Ivonne; Castilla, Joaquin
Academic Journal
Gelpi, Ellen; Reinecke, Raphael; Gaig, Carles; Iranzo, Alex; Sabater, Lidia; Molina-Porcel, Laura; Aldecoa, Iban
Acta Neuropathologica. December, 2024, Vol. 148 Issue 1
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