학술논문
'학술논문'
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1~10
Academic Journal
Zhong, HH; Sian, V; Johari, M; Katayama, S; Oghabian, A; Jonson, PH; Hackman, P; Savarese, M; Udd, B
Communications biology. 7(1):438
Academic Journal
Weihl, CC; Udd, B; Hanna, M; Ben-Zvi, A; Blaettler, T; Richardson, RB; Carra, S; Dimachkie, M; Findlay, A; Greensmith, L; Greenspan, S; Hohfied, J; Jonson, PH; Kampinga, H; Larsson, L; Linke, W; Lynch, G; Machado, P; Orlando, L; Richard, I; Roos, A; Sarparanta, J; Timmerman, V; Weihl, C; Zah, L
Neuromuscular disorders : NMD. 28(12):1022-1030
Academic Journal
Waldrop, Megan A; Moore, Steven A; Mathews, Katherine D; Darbro, Benjamin W; Medne, Livja; Finkel, Richard; Connolly, Anne M; Crawford, Thomas O; Drachman, Daniel; Wein, Nicolas; Habib, Ali A; Krzesniak-Swinarska, Monika A; Zaidman, Craig M; Collins, James J; Jokela, Manu; Udd, Bjarne; Day, John W; Ortiz-Guerrero, Gloria; Statland, Jeff; Butterfield, Russell J; Dunn, Diane M; Weiss, Robert B; Flanigan, Kevin M
Human mutation. 43(4)
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
Elia, Nathaniel; Palmio, Johanna; Castañeda, Marisol Sampedro; Shieh, Perry B; Quinonez, Marbella; Suominen, Tiina; Hanna, Michael G; Männikkö, Roope; Udd, Bjarne; Cannon, Stephen C
Neurology. 92(13)
Academic Journal
Vihola, A; Bachinski, LL; Sirito, M; Olufemi, SE; Hajibashi, S; Baggerly, KA; Raheem, O; Haapasalo, H; Suominen, T; Holmlund-Hampf, J; Paetau, A; Cardani, R; Meola, G; Kalimo, H; Edstrom, L; Krahe, R; Udd, B
Acta neuropathologica. 119(4):465-479
Academic Journal
Pogoryelova, O; Urtizberea, JA; Argov, Z; Nishino, I; Lochmuller, H; Roos, A; Willems, A; Behin, A; Udd, B; Landfeldt, E; Mansbach, H; Tourney, I; Hogrel, JY; Welsh, L; Mori-Yoshimura, M; Huizing, M; Davidovich, M; Hek, M; Patel, M; Lek, M; Carrillo, N; Horstkorte, R; Mitrani-Rosenbaum, S; Mozaffar, T; Evangelista, T
Neuromuscular disorders : NMD. 29(5):401-410
Academic Journal
In: Neurology: Genetics . (Neurology: Genetics, 12 August 2024, 10(5))
Academic Journal
Olive, M; Engvall, M; Ravenscroft, G; Cabrera-Serrano, M; Jiao, H; Bortolotti, CA; Pignataro, M; Lambrughi, M; Jiang, HB; Forrest, ARR; Benseny-Cases, N; Hofbauer, S; Obinger, C; Battistuzzi, G; Bellei, M; Borsari, M; Di Rocco, G; Viola, HM; Hoo, LC; Cladera, J; Lagerstedt-Robinson, K; Xiang, FQ; Wredenberg, A; Miralles, F; Baiges, JJ; Malfatti, E; Romero, NB; Streichenberger, N; Via, C; Claeys, KG; Straathof, CSM; Goris, A; Freyer, C; Lammens, M; Bassez, G; Kere, J; Clemente, P; Sejersen, T; Udd, B; Vidal, N; Ferrer, I; Edstrom, L; Wedell, A; Laing, NG
Nature communications. 10(1):1396
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