학술논문
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'학술논문'
에서 검색결과 748건 | 목록
1~20
Academic Journal
Teresinha Evangelista; Houda Ali; Charlotte Handberg; Thomas Sejersen; Ros Quinlivan; Isabella Moroni; Marion Masingue; Susana Quijano-Roy; Antonio Atalaia; Ulrike Schara-Schmidt; Kristl G. Claeys
Orphanet Journal of Rare Diseases, Vol 21, Iss 1, Pp 1-14 (2025)
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
Ali A. Habib; Kristl G. Claeys; Vera Bril; Yessar Hussain; Kelly Gwathmey; Gregory Sahagian; Elena Cortés‐Vicente; Edward Brauer; Deborah Gelinas; Anne Sumbul; Rosa H. Jimenez; Daniela Hristova; Delphine Masschaele; Renato Mantegazza; Andreas Meisel; Shahram Attarian; the ADAPT NXT Study Group
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 12, Iss 6, Pp 1162-1170 (2025)
Annals of Clinical and Translational Neurology, Vol 12, Iss 6, Pp 1162-1170 (2025)
Academic Journal
Bertien Buyse; Dries Testelmans; Alexandros Kalkanis; Mieke Boon; Liesbeth De Waele; Kristl G Claeys
Journal of Neuromuscular Diseases.
Automated Classification of Neuromuscular Diseases Using Thigh Muscle MRI With Model Interpretations
Academic Journal
J Cachexia Sarcopenia Muscle
Academic Journal
Andrea Cortese; Maike F Dohrn; Riccardo Curro; Sara Negri; Petra Lassuthova; Chiara Pisciotta; Stefano Tozza; Abdullah Al-Ajmi; Changyong Feng; Pedro J Tomaselli; Gorka Fernandez-Eulate; Saif Haddad; Matilde Laurà; Alexander M Rossor; Elisa Vegezzi; Stefano Facchini; James N Sleigh; Adriana Rebelo; Danique Beijer; Jacquelyn Raposo; Mario Saporta; Barbora Lauerova; Helena F Pernice; Pascal Achenbach; Ulrike Schöne; Tayir Alon; Marcus Deschauer; Isabell Cordts; Carolin D Obermaier; Natalie Winter; Peter D Creigh; Janet E Sowden; Tyler Rehbein; Stefania Magri; Alessandro Bertini; Paola Saveri; Paolo Ripellino; Jingyu Huang; Aleksandra Nadaj-Pakleza; Alison Ross; James K L Holt; Kathryn M Brennan; Rivka Sukenik-Halevy; Varoona Bizaoui; Yesim Parman; Esra Battaloglu; Arman Cakar; Hadil Alrohaif; Simon Hammans; Kishore R Kumar; Marina L Kennerson; Hülya Kayserili; Defne A Amado; Katrin Hahn; Paola Valentino; Francesca Cavalcanti; Carlo Gaetano; Franco Taroni; Geir J Braathen; Henry Houlden; Tanya Stojkovic; Stojan Peric; Alessandra Bolino; Stefano C Previtali; Lee Yi-Chung; Ayşe N Başak; Sherifa A Hamed; Ricardo Rojas-Garcia; Kristl G Claeys; Wilson Marques; Teresa Sevilla; Beate Schlotter-Weigel; Fiore Manganelli; Ruxu Zhang; David N Herrmann; Steven S Scherer; Pavel Seeman; Davide Pareyson; Mary M Reilly; Michael E Shy; Stephan Züchner
Brain
Brain : a journal of neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Brain : a journal of neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Academic Journal
Wenninger, Stephan; Kushlaf, Hani; Hummel, Noemi; Fox, Brian; Gloeckner, Birgit; Holdbrook, Fred; Jain, Vipul; Peceny, Markus; Schoser, Benedikt; Claeys, Kristl G.
Neuromuscular Disorders. 60
Academic Journal
Allen, Jeffrey A; Lin, Jie; Basta, Ivana; Dysgaard, Tina; Eggers, Christian; Guptill, Jeffrey T; Gwathmey, Kelly G; Hewamadduma, Channa; Hofman, Erik; Hussain, Yessar M; Kuwabara, Satoshi; Le Masson, Gwendal; Leypoldt, Frank; Chang, Ting; Lipowska, Marta; Lowe, Murray; Lauria, Giuseppe; Querol, Luis; Simu, Mihaela-Adriana; Suresh, Niraja; Tse, Anissa; Ulrichts, Peter; Van Hoorick, Benjamin; Yamasaki, Ryo; Lewis, Richard A; van Doorn, Pieter A; Collaborators: Susanne Grinzinger; Julia Wanschitz; Thomas Seifert-Held; Kristl G Claeys; Jonathan Baets; Gauthier Remiche; Véronique Bissay; Nicolas Dubuisson; Stephanie Delstanche; Ivaylo Tarnev; Krasimir Genov; Plamen Tsvetanov; Ivan Milanov; Chongbo Zhao; Bitao Bu; Xuefan Yu; Wei Li; Haishan Jiang; Yuwei Da; Zuneng Lu; Hui Liang; Fuqiang Guo; Zunbo Li; Zhangyu Zou; Daojun Hong; Huan Yang; Junhong Guo; Jianquan Shi; Jianglong Tu; Dian He; Yiqi Wang; Jing Ding; Yali Zhang; Yuanqi Zhao; Renxi Xu; Yunhua Yue; Aihong Guo; Yuzhong Wang; Radomir Talab; Thomas Harbo; Soeren Sindrup; Jérôme De Seze; Sabrina Sacconi; Yann Péréon; Andoni Echaniz-Laguna; Laurent Magy; Guillaume Nicolas; Frédéric Taithe; Julien Cassereau; Rabab Debs; Roman Shakarishvili; Alexander Tsiskaridze; Maka Mania; Marina Janelidze; Tamar Janelidze; Michael Schroeter; Thomas Skripuletz; De-Hyung Lee; Juliane Klehmet; Benjamin Hotter; Olaf Hoffmann; Petra Baum; Jana Zschuentzsch; Kalliopi Pitarokoili; Mark Stettner; Dániel Bereczki; Gyula Pánczél; Alon Abraham; Amir Dori; Yair Lampl; Fiore Manganelli; Stefania Morino; Alessandro Padovani; Gabriele Siciliano; Angelo Schenone; Francesca Magri; Anna Mazzeo; Fabio Giannini; Sandro Sorbi; Adriano Chiò; Motoi Kuwahara; Tatsusada Okuno; Tomoko Okamoto; Norito Kokubun; Kazutoshi Nishiyama; Kenichi Kaida; Kota Bokuda; Masahisa Katsuno; Ichiro Yabe; Etsuji Saji; Takanori Yokota; Yuki Hatanaka; Jin Nakahara; Takamichi Sugimoto; Fumiaki Tanaka; Satoshi Tomita; Yoshihisa Yamano; Tomohiro Hayashi; Hiroki Yamazaki; Takashi Tokashiki; Kazuhiro Horiuchi; Guntis Karelis; Filip Eftimov; Marta Banach; Urszula Chyrchel-Paszkiewicz; Jan Kochanowicz; Krzysztof Selmaj; Tomasz Zielinski; Krzysztof Banaszkiewicz; Dan Mitrea; Ana-Maria Scutaru-Kadar; Any Axelerad; Fatima Stuchevskaya; Alexey Boyko; Farit Khabirov; Tatiana Trushnikova; Zoya Goncharova; Natalia Suponeva; Nikolay Dorogov; Eduard Yakupov; Ranko Raicevic; Svetlana Miletic Drakulic; Macarena Cabrera Serrano; Jose Luis Muñoz Blanco; Antonio Guerrero Sola; Eduardo Aguera Morales; Carmen Diaz Marin; Raúl Juntas Morales; Jiann-Horng Yeh; Jia-Ying Sung; Han-Wei Huang; Nai-Wen Tsai; Yuh-Cherng Guo; Chi-Chao Chao; Long-Sun Ro; Ihsan Sengun; Murat Terzi; Sezin Alpaydin Baslo; Filiz Koç; Hamdi Necdet Karli; Olga Shulga; Dmytro Smolko; Oleksandr Doroshenko; Nataliya Tomakh; Alla Kyrychenko; Olga Seliuk; Oleksandr Kalbus; Iryna Skrypchenko; Olha Novakovska; Francisco Javier Carod-Artal; Simon Rinaldi; Kathryn Brennan; Simon Ellis; Aisling Carr; Emma Matthews; Rebecca Traub; Tahseen Mozaffar; Matthew Elliott; Ratna Bhavaraju-Sanka; Christopher Nance; Todd Levine; Robert Lisak; Mamatha Pasnoor; Michael Pulley; Bhaskar Roy; Raghav Govindarajan; Gregory Sahagian; Sami Khella; Daniel Jacob; Hani Kushlaf; Kumaraswamy Sivakumar; Isaac Melamed; Khema Sharma; Adam Quick; Eroboghene Ubogu; David Lacomis; Arnaldo Isa; Thomas Brannagan; Shan Chen; Jonathan Katz; Marc Feinberg; Pantelis Pavlakis; Dale Lange; Mark Gudesblatt; Rup Tandan; Karissa Gable; Michael Rivner; Benjamin Barnes; Donna Luke; Zabeen Mahuwala; Samir Macwan; Patrick Kwon; James Scott; Sadiq Altamimi; Priyanka Sabharwal
The Lancet Neurology. 23:1013-1024
Academic Journal
Nicol C. Voermans; Anne T.M. Dittrich; Sara Liguori; Chiara Panicucci; Antimo Moretti; David R. Weber; Leanne M. Ward; Ingrid de Groot; Michela Guglieri; Claire Wood; Giovanni Iolascon; Anna Kostera-Pruszczyk; Corrie E. Erasmus; Marianne de Visser; Leanne Ward; David Weber; Silke Schlüter; Nicola Crabtree; Andrea Del Fattore; Kristl G. Claeys; Madelon Kroneman; Sze Choong Wong; Nicol Voermans
Neuromuscular Disorders, 43, pp. 1-13
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
Gorka Fernández-Eulate; Cyril Gitiaux; Simone Thiele; Heinz Jungbluth; Anna Potulska-Chromik; Chiara Marini-Bettolo; Jean Baptiste Davion; Germán Morís; Eduard Gallardo; Montsé Olivé; Carlos Pablo de Fuenmayor-Fernández de la Hoz; Frederique Audic; Arnaud Isapof; Maggie C Walter; Corrado Angelini; Enrico Bertini; Ulrike Schara-Schmidt; Kristl G Claeys; Maike F Dohrn; Mohamed Dembele; Frederic Fer; Guy Brochier; Teresinha Evangelista; Anna Kostera-Pruszczyk; Shahram Attarian; Volker Straub; Cristina Dominguez-Gonzalez; John Vissing; Pascale Richard; Corinne Metay; Diala Khraiche; Karim Wahbi; Tanya Stojkovic
Fernández-Eulate, G , Gitiaux, C, Thiele, S, Jungbluth, H, Potulska-Chromik, A, Marini-Bettolo, C, Davion, J B, Morís, G , Gallardo, E, Olivé, M, de la Hoz, C P D F-F, Audic, F, Isapof, A, Walter, M C, Angelini, C, Bertini, E, Schara-Schmidt, U, Claeys , K G , Dohrn, M F, Dembele, M, Fer, F, Brochier, G , Evangelista, T, Kostera-Pruszczyk, A, Attarian, S, Straub, V, Dominguez-Gonzalez, C, Vissing, J, Richard, P, Metay, C, Khraiche, D, Wahbi, K & Stojkovic, T 2025, 'Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe', Brain : a journal of neurology. https://doi.org/10.1093/brain/awaf223
Academic Journal
Isaac R. L. Xu; Matt C. Danzi; Ariel Ruiz; Jacquelyn Raposo; Yeisha Arcia De Jesus; Mary M. Reilly; Andrea Cortese; Michael E. Shy; Steven S. Scherer; David N. Herrmann; Vera Fridman; Jonathan Baets; Mario Saporta; Reza Seyedsadjadi; Tanya Stojkovic; Kristl G. Claeys; Pooja Patel; Shawna Feely; Adriana P. Rebelo; Maike F. Dohrn; Stephan Züchner
Journal of the peripheral nervous system
Academic Journal
Ana Töpf; Dan Cox; Irina T. Zaharieva; Valeria Di Leo; Jaakko Sarparanta; Per Harald Jonson; Ian M. Sealy; Andrei Smolnikov; Richard J. White; Anna Vihola; Marco Savarese; Munise Merteroglu; Neha Wali; Kristen M. Laricchia; Cristina Venturini; Bas Vroling; Sarah L. Stenton; Beryl B. Cummings; Elizabeth Harris; Chiara Marini-Bettolo; Jordi Diaz-Manera; Matt Henderson; Rita Barresi; Jennifer Duff; Eleina M. England; Jane Patrick; Sundos Al-Husayni; Valerie Biancalana; Alan H. Beggs; Istvan Bodi; Shobhana Bommireddipalli; Carsten G. Bönnemann; Anita Cairns; Mei-Ting Chiew; Kristl G. Claeys; Sandra T. Cooper; Mark R. Davis; Sandra Donkervoort; Corrie E. Erasmus; Mahmoud R. Fassad; Casie A. Genetti; Carla Grosmann; Heinz Jungbluth; Erik-Jan Kamsteeg; Xavière Lornage; Wolfgang N. Löscher; Edoardo Malfatti; Adnan Manzur; Pilar Martí; Tiziana E. Mongini; Nuria Muelas; Atsuko Nishikawa; Anne O’Donnell-Luria; Narumi Ogonuki; Gina L. O’Grady; Emily O’Heir; Stéphanie Paquay; Rahul Phadke; Beth A. Pletcher; Norma B. Romero; Meyke Schouten; Snehal Shah; Izelle Smuts; Yves Sznajer; Giorgio Tasca; Robert W. Taylor; Allysa Tuite; Peter Van den Bergh; Grace VanNoy; Nicol C. Voermans; Julia V. Wanschitz; Elizabeth Wraige; Kimihiko Yoshimura; Emily C. Oates; Osamu Nakagawa; Ichizo Nishino; Jocelyn Laporte; Juan J. Vilchez; Daniel G. MacArthur; Anna Sarkozy; Heather J. Cordell; Bjarne Udd; Elisabeth M. Busch-Nentwich; Francesco Muntoni; Volker Straub
Nat Genet
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Nature Genetics, 56, 3, pp. 395-407
Nature genetics
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Nature Genetics, 56, 3, pp. 395-407
Nature genetics
Academic Journal
Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V.; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N.; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L.; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G.; Thal, Dietmar Rudolf; Bevilacqua, Jorge A.; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A.; Kushlaf, Hani; Lloyd, Thomas E.; Ikenaga, Chiseko; Alfano, Lindsay N.; Quinn, Colin C.; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi
Neurology Genetics. Jul 16, 2025 11(4)
Academic Journal
Kelly Gwathmey; Vera Bril; Ali A. Habib; Kristl G. Claeys; Yessar Hussain; Gregory Sahagian; Elena Cortés-Vicente; Edward Brauer; Jeff Guptill; Deborah Gelinas; Li Liu; Rosa H. Jimenez; Delphine Masschaele; Renato Mantegazza; Andreas Meisel; Fang Sun; Shahram Attarian
Neurology. 104
Academic Journal
Momenilandi, Mana; Lévy, Romain; Sobrino, Steicy; Li, Jingwei; Lagresle-Peyrou, Chantal; Esmaeilzadeh, Hossein; Fayand, Antoine; Le Floc'h, Corentin; Guerin, Antoine; Della Mina, Erika; Shearer, Debra; Delmonte, Ottavia M.; Yatim, Ahmad; Mulder, Kevin; Mancini, Mathieu; Rinchai, Darawan; Denis, Adeline; Neehus, Anna-Lena; Balogh, Karla; Brendle, Sarah; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Seeleuthner, Yoann; Deswarte, Caroline; Bessot, Boris; Cremades, Cassandre; Materna, Marie; Cederholm, Axel; Ogishi, Masato; Philippot, Quentin; Beganovic, Omer; Ackermann, Mania; Wuyts, Margareta; Khan, Taushif; Fouéré, Sebastien; Herms, Florian; Chanal, Johan; Palterer, Boaz; Bruneau, Julie; Molina, Thierry J.; Leclerc-Mercier, Stéphanie; Prétet, Jean-Luc; Youssefian, Leila; Vahidnezhad, Hassan; Parvaneh, Nima; Claeys, Kristl G.; Schrijvers, Rik; Luka, Marine; Pérot, Philippe; Fourgeaud, Jacques; Nourrisson, Céline; Poirier, Philippe; Jouanguy, Emmanuelle; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Notarangelo, Luigi D.; Christensen, Neil; Landegren, Nils, 1986; Abel, Laurent; Marr, Nico; Six, Emmanuelle; Langlais, David; Waterboer, Tim; Ginhoux, Florent; Ma, Cindy S.; Tangye, Stuart G.; Meyts, Isabelle; Lachmann, Nico; Hu, Jiafen; Shahrooei, Mohammad; Bossuyt, Xavier; Casanova, Jean-Laurent; Béziat, Vivien
Cell. 187(11):2817
Academic Journal
Samantha J. Bryen; Lisa J. Ewans; Jason Pinner; Suzanna C. MacLennan; Sandra Donkervoort; Diana Castro; Ana Töpf; Gina O'Grady; Beryl Cummings; Katherine R. Chao; Ben Weisburd; Laurent Francioli; Fathimath Faiz; Adam M. Bournazos; Ying Hu; Carla Grosmann; Denise M. Malicki; Helen Doyle; Nanna Witting; John Vissing; Kristl G. Claeys; Kathryn Urankar; Ana Beleza‐Meireles; Julia Baptista; Sian Ellard; Marco Savarese; Mridul Johari; Anna Vihola; Bjarne Udd; Anirban Majumdar; Volker Straub; Carsten G. Bönnemann; Daniel G. MacArthur; Mark R. Davis; Sandra T. Cooper
Human Mutation. 41:403-411
Academic Journal
Smeets, Nathalie, MD; Gheldof, Alexander, PhD; Dequeker, Bart, MSc; Poleur, Margaux, MD; Maldonado Slootjes, Sofia, MD; Van Parijs, Vinciane, MD; Deconinck, Nicolas, MD, PhD; Dontaine, Pauline, MD; Alonso-Jimenez, Alicia, MD, PhD; De Bleecker, Jan, MD, PhD; De Ridder, Willem, MD, PhD; Herdewyn, Sarah, MD, PhD; Paquay, Stéphanie, MD; Vanlander, Arnaud, MD, PhD; De Waele, Liesbeth, MD, PhD; Peirens, Geertrui, MD; Beysen, Diane, MD, PhD; Claeys, Kristl G., MD, PhD; Dubuisson, Nicolas, MD; Hansen, Isabelle, MD; Remiche, Gauthier, MD, PhD; Seneca, Sara, PhD; Bissay, Véronique, MD, PhD; Régal, Luc, MD
Pediatric Neurology. 158:57-65
Academic Journal
Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; ’t Hoen, Peter A. C.; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D’Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime; Eng, Catherine; Lamy, François; Plançon, Jean-Philippe; Haberlova, Jana; Brusse, Esther; Hoeijmakers, Janneke G. J.; de Visser, Marianne; Claeys, Kristl G.; Paradas, Carmen; Toscano, Antonio; Silani, Vincenzo; Gyenge, Melinda; Reviers, Evy; Hamroun, Dalil; Vroom, Elisabeth; Wilkinson, Mark D.; Lochmuller, Hanns; Evangelista, Teresinha
Orphanet Journal of Rare Diseases. 19(1)
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