학술논문
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'학술논문'
에서 검색결과 1,109건 | 목록
1~20
Academic Journal
Esther Fernández-Simón; Ainoa Tejedera-Villafranca; Xiomara Fernández-Garabay; James Clark; Alexandra Monceau; Elisa Villalobos; Dan Cox; Javier Ramón Azcón; Juan M. Fernández-Costa; Jordi Diaz Manera
Cell Death and Disease, Vol 17, Iss 1, Pp 1-12 (2026)
Academic Journal
Hani Kushlaf; Jordi Díaz‐Manera; Drago Bratkovic; Barry J. Byrne; Kristl G. Claeys; Paula R. Clemens; Mazen M. Dimachkie; Priya S. Kishnani; Pascal Laforêt; Mark Roberts; Benedikt Schoser; Antonio Toscano; Jeff Castelli; Fred Holdbrook; Sheela Sitaraman Das; Mitchell Goldman; Tahseen Mozaffar
Muscle & Nerve. 72:230-239
Academic Journal
Fatemeh Ahmadiharchegani; Rebecca A. Tobin; Chiara Degan; Ahmed Naveed; Michela Guglieri; Albert Jiménez-Requena; Sharon I. de Vries; Cristina Al-Khalili Szigyarto; Pietro Spitali; Roula Tsonaka; Yuri E. M. van der Burgt; Jordi Diaz-Manera; VBP15-004 investigators, CINRG DNHS investigators; FOR-DMD investigators of the Muscle Study Group; Paula R. Clemens; Eric P. Hoffman; Utkarsh J. Dang; Yetrib Hathout
Scientific Reports, Vol 15, Iss 1, Pp 1-16 (2025)
Academic Journal
Domínguez-González, Cristina; Iannucci, Domenico; Clark, James; Martín-Jiménez, Paloma; Hold, Stephan; Oliva, Petra; Bischinger, Anita; Gallardo, Eduard; Díaz-Manera, Jordi
Neuromuscular Disorders. 60
Academic Journal
Meredith K. James; Megan A. Iammarino; Natalie F. Reash; Christopher L. Steiner; Audrey B. Knight; Melissa A. Smith; Dionne Moat; Jassi Michell-Sodhi; Karen S.W. Wong; Emma Grover; Emma-Jayne Robinson; Anna G. Mayhew; Michelle Eagle; Maha Elseed; Michela Guglieri; Volker Straub; Chiara Marini-Bettolo; Robert Muni-Lofra; Jordi Diaz-Manera; Linda Pax Lowes; Lindsay N. Alfano
Neurology Genetics. 11
Academic Journal
Volker Straub; Amanda R. Clause; Sandra Donkervoort; Peter B. Kang; Chamindra G. Laverty; Zhiyv Niu; Matthew P. Wicklund; Carsten G. Bönnemann; Sandra T. Cooper; Jordi Díaz-Manera; Nicholas E. Johnson; Pushpa Narayanaswami; John Vissing; Maggie C. Walter; Caryne Craige; Conrad C. Weihl
Neurology
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Eleonora Torchia; Matteo Lucchini; José Verdu‐Diaz; Sara Bortolani; Beatrice Ravera; Vincenzo Carlomagno; Alessandra Cicia; Daniela Bernardo; Mauro Monforte; Robert Rehmann; Rudolf Andre Kley; Mario Sabatelli; Jordi Díaz‐Manera; Enzo Ricci; Massimiliano Mirabella; Giorgio Tasca
Journal of Cachexia, Sarcopenia and Muscle, Vol 17, Iss 1, Pp n/a-n/a (2026)
Academic Journal
Straub, Volker; Clause, Amanda R.; Donkervoort, Sandra; Kang, Peter B.; Laverty, Chamindra G.; Niu, Zhiyv; Wicklund, Matthew P.; Bönnemann, Carsten G.; Cooper, Sandra T.; Díaz-Manera, Jordi; Johnson, Nicholas E.; Narayanaswami, Pushpa; Vissing, John; Walter, Maggie C.; Craige, Caryne; Weihl, Conrad C.
Neurology. Oct 28, 2025 105(10)
Academic Journal
Kishnani, Priya S.; Díaz-Manera, Jordi; Illarioshkin, Sergey; van der Ploeg, Ans T.; Clemens, Paula R.; Day, John W.; Toscano, Antonio; Kushlaf, Hani; Ladha, Shafeeq; Attarian, Shahram; Carvalho, Gerson; Kostera-Pruszczyk, Anna; Erdem-Özdamar, Sevim; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Straub, Volker; Roberts, Mark; Haack, Kristina An; Huynh-Ba, Olivier; Tammireddy, Swathi; Periquet, Magali; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt
Journal of Neurology. 272(9)
Academic Journal
Priya S. Kishnani; Matthias Boentert; Stephan Wenninger; Kenneth I. Berger; Jérôme Msihid; Lasair O'Callaghan; Rachida Essadi‐Addou; Victor Gallego; Neeraj Singh Rawat; Olivier Huynh‐Ba; Jordi Diaz‐Manera
JIMD Rep
Academic Journal
Carla Florencia Bolano-Diaz; Harmen Reyngoudt; Ian J. Wilson; Meredith K. James; Fiona Elizabeth Smith; Ericky Caldas de Almeida Araujo; Heather Gordish-Dressman; Heather Hilsden; Laura E. Rufibach; Dorothy Wallace; Louise Ward; Roberto Stramare; Alessandro Rampado; Mark Smith; Jean-Marc Boisserie; Julien Le Louer; Sheryl Foster; Anthony Peduto; Noriko Sato; Takeshi Tamaru; Anne Marie Sawyer; John W. Day; Kristi J. Jones; Maggie Christine Walter; Tanya Stojkovic; Madoka Mori-Yoshimura; Jerry R. Mendell; Elena Pegoraro; Volker Straub; Andrew M. Blamire; Pierre Carlier; Jordi Diaz-Manera; Marni Jacobs; Adrienne Arrieta; Esther Hwang; Elaine Lee; Brent Yetter; Sabine Krause; Olivia Schreiber-Katz; Elizabeth Harris; Michela Guglieri; Teresinha Evangelista; Alex Murphy; Michelle Eagle; Robert Muni Lofra; Dionne Moat; Jassi Amritpal Singh Sodhi; Helen Sutherland; Tim Hodgson; Chiara Calore; Claudio Semplicini; Luca Bello; Jean Yves; Oumar Diabaté; Jennifer Perez; Carolina Tesi-Rocha; Richard Gee; Nigel F. Clarke; Sarah Sandaradura; Roula Ghaoui; Kayla Cornett; Claire Miller; Shinich Takeda; Ai Ashida; Takayuki Tateishi; Hiroyuki Yajima; Takahiro Nakayama; Kazuhiko Segawa; Makiko Endo
Neurol Genet
Academic Journal
White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal
J Cachexia Sarcopenia Muscle
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
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
Academic Journal
Riguzzi, Pietro; Borland, Holly; James, Meredith K.; Bourke, John; Bettolo, Chiara Marini; Lofra, Robert Muni; Diaz-Manera, Jordi; Tasca, Giorgio; Schiava, Marianela; ElSeed, Maha; Harris, Elizabeth; Grover, Emma; Geagan, Chloe; Diaz, Carla Bolano; Haagsma, Ariele Barreto; Salman, Doaa; Reeves, Tara; Kocak, Goknur S.; Robinson, Emma; Waldock, Peter; McCallum, Michelle; Michell-Sodhi, Jassi; Moat, Dionne; Wong, Karen; Topf, Ana; Pegoraro, Elena; Bello, Luca; Straub, Volker; Guglieri, Michela
Journal of Neurology. 272(7)
Academic Journal
Jordi Diaz-Manera; Reena Sharma; James B Lilleker; Tarekegn Geberhiwot; Patrick Deegan; James Davison; Alexander Broomfield; Meredith K James; Rachel Gould
BMJ Neurology Open, Vol 7, Iss 2 (2025)
Academic Journal
Iammarino, M.A.; Alonso-Pérez, J.; Stojkovic, T.; Pegoraro, E.; Lowes, L.; Díaz-Manera, J.; Alonso-Pérez, Jorge; Borland, Hollie; Bruno, Claudio; Cárdenas, Laura; Claeys, Kristl; Ferrer, Marta de Antonio; Pace, Felipe Di; Ianmarino, Megan; James, Meredith; Johnson, Nicholas; Leonardis, Leo; Luce, Leonella; Miladi, Najoua; Mueller-York, Andre; Richard, Isabelle; Sanchez, Carles; Sandona, Dorianna; Talim, Beril; Tasca, Giorgio; Vasu, Suji; Weihl, Chris; Wenniger, Stephan; Belle, Aleksandra Leijenhorst Le; Stojkovic, Tanya; Pegoraro, Elena; Lowes, Linda; Diaz-Manera, Jordi; Hinloopen, Wilma
Neuromuscular Disorders. 54
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[검색어] Diaz‐Manera, Jordi
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