학술논문
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공정이용 지침
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'학술논문'
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1~20
Academic Journal
European Journal of Human Genetics. 34(2):185-192
Academic Journal
Harkness, J. Robert; McDermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D.S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J.M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovičová, Radka; Haberlová, Jana; Lauerová, Barbora; Trúsiková, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmüller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; AlMuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'Keefe, Raymond T.; Newman, William G.
Harkness, J R, McDermott, J H, Marsden, S, Jamieson, P, Metcalfe, K A, Khan, N, Macken, W L, Pitceathly, R D S, Record, C J, Maroofian, R, Kleopa, K, Christodoulou, K, Sabir, A, Islam, L, Santra, S, Durmusalioglu, E A, Atik, T, Isik, E, Cogulu, O, Urquhart, J E, Beaman, G M, Demain, L A, Jackson, A, Blakes, A J M, Byers, H J, Bennett, H, Lin, W H, Adamson, A, Patel, S, Yue, W W, Taylor, R W, Reunert, J, Marquardt, T, Buchert, R, Haack, T, Losch, H, Ryba, L, Lassuthova, P, Valkovičová, R, Haberlová, J, Lauerová, B, Trúsiková, E, Polavarapu, K, Kilicarslan, O A, Lochmüller, H, Zamani, M, Chamanrou, N, Shariati, G, Sadeghian, S, Azizimalamiri, R, Maddirevula, S, AlMuhaizea, M, Alkuraya, F S, Horvath , R, Gungor, S, Manzur, A, Munot, P, Matthews, R, Banka, S, Reilly, M M, Bennett, D, O'Keefe, R T & Newman, W G 2025, 'Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants : a case series', The Lancet Neurology, vol. 24, no. 8, pp. 667-680. https://doi.org/10.1016/S1474-4422(25)00198-X
Academic Journal
Hamdan, Alzahra; Traschütz, Andreas; Beichert, Lukas; Chen, Xiaomei; Gagnon, Cynthia; Warrenburg, Bart P.; Santorelli, Filippo M.; Başak, Nazlı; Coarelli, Giulia; Horvath, Rita; Klebe, Stephan; Schüle, Rebecca; Hooker, Andrew C.; Synofzik, Matthis; Karlsson, Mats O.
CPT: Pharmacometrics & Systems Pharmacology. November 18, 2025, Vol. 14 Issue 11, p1857, 12 p.
Academic Journal
Gao, Fei; Schon, Katherine R.; Vandrovcova, Jana; Köken, Özlem Yayıcı; Raga, Sharika; Naidu, Kireshnee; Schoonen, Maryke; Rani, Nimita; Tomaselli, Pedro; Baskar, Dipti; Kapapa, Musambo; Polat, Ipek; Wilson, Lindsay A.; Thangaraj, Kumarasamy; Yiş, Uluç; Nandeesh, Bevinahalli N.; Bearden, David; Kvalsund, Michelle; Henning, Franclo; Vengalil, Seena; Nalini, Atchayaram; Sobreira, Claudia F.R.; Marques, Wilson; Topoloğlu, Haluk; Hanna, Michael G.; Yareeda, Sireesha; Vishnu, Venugopalan Y.; Westhuizen, Francois H.; Smuts, Izelle; Meldau, Surita; Wilmshurst, Jo; Çavdarlı, Büşranur; Heckmann, Jeannine; Chinnery, Patrick F.; Horvath, Rita
Annals of Clinical and Translational Neurology. August 12, 2025, Vol. 12 Issue 8, p1680, 9 p.
Academic Journal
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G., 1952; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah, 1973; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi
Human Mutation. 43(6):717-733
Academic Journal
The Cerebellum. 24(6)
Academic Journal
Ágnes Zsila; Lynn E. McCutcheon; Reza Shabahang; Mara S. Aruguete; Róbert Urbán; Ágnes Buvár; Rita Horváth; Zsolt Demetrovics
BMC Psychology, Vol 14, Iss 1 (2026)
Academic Journal
European Food Safety Authority (EFSA); Chantra Eskes; José Cortiñas‐Abrahantes; Bernard Bottex; Jean‐Lou C. M. Dorne; Bruno Dujardin; Rita Ferreira deSousa; Zsuzsanna Horvath; Eirini Kouloura; Luisa Ramos Bordajandi; Valentina Rizzi; Hans Steinkellner; Mary Gilsenan
EFSA Journal, Vol 24, Iss 2, Pp n/a-n/a (2026)
Academic Journal
Rita Jakabfi-Csepregi; Zoltán Nagymihály; Zoltán Horváth-Szalai; Balázs Szirmay; Éva Varga-Visi; Omeralfaroug Ali; Edward Agyarko; András Szabó; Miklós Poór
ACS Omega, Vol 10, Iss 39, Pp 45883-45893 (2025)
Academic Journal
Ratnaike, Thiloka ; Ramanan, Siddharth ; Elkhateeb, Nour ; Narayanan, Ramya ; Yang, Jenny ; Arany, Eszter Sara ; Mirchandani, Manya ; Piper, Rachael ; Schon, Katherine ; Kule, M. Eren ; Gilmartin, Christopher ; Lochmüller, Angela ; Shaw, Emogene ; Horváth, Rita ; Chinnery, Patrick F.
In Genetics in Medicine January 2026 28(1)
Report
Green, Jarred Gershon; Carosi, Alessandro; Nava, Lara; Patricelli, Barbara; Schüssler, Fabian; Seglar-Arroyo, Monica; Consortium, Cta; Abe, Kazuki; Abe, Shotaro; Acharyya, Atreya; Adam, Remi; Aguasca-Cabot, Arnau; Agudo, Ivan; Alfaro, Jorge; Alvarez-Crespo, Nuria; Batista, Rafael Alves; Amans, Jean-Philippe; Amato, Elena; Ambrosino, Filippo; Angüner, Ekrem Oguzhan; Antonelli, Lucio Angelo; Aramo, Carla; Arcaro, Cornelia; Arrabito, Luisa; Asano, Katsuaki; Aschersleben, Jann; Ashkar, Halim; Stuani, Luiz Augusto; Baack, Dominik; Backes, Michael; Balazs, Csaba; Balbo, Matteo; Larriva, Andres Baquero; Martins, Victor Barbosa; de Almeida, Ulisses Barres; Barrio, Juan Abel; Bastieri, Denis; Batista, Pedro Ivo; Batković, Ivana; Batzofin, Rowan William; Baxter, Joshua Ryo; Beck, Geoffrey; Tjus, Julia Becker; Beiske, Lukas; Belardinelli, Daniele; Benbow, Wystan; Bernardini, Elisa; Medrano, Juan Bernete; Bernlöhr, Konrad; Berti, Alessio; Beshley, Vasyl; Bhattacharjee, Pooja; Bhattacharyya, Saptashwa; Bi, Baiyang; Biederbeck, Noah; Biland, Adrian; Bissaldi, Elisabetta; Blanch, Oscar; Blazek, Jiri; Boisson, Catherine; Bolmont, Julien; Bonnoli, Giacomo; Bordas, Pol; Bošnjak, Željka; Bradascio, Federica; Braiding, Catherine; Bronzini, Ettore; Brose, Robert; Brown, Anthony M.; Brun, Francois; Brunelli, Giulia; Bulgarelli, Andrea; Burelli, Irene; Burmistrov, Leonid; Burton, Michael; Bylund, Tomas; Calisse, Paolo Gherardo; Campoy-Ordaz, Anna; Cantlay, Brandon Khan; Capalbi, Milvia; Caproni, Anderson; Capuzzo-Dolcetta, Roberto; Carlile, Colin; Caroff, Sami; Carosi, Roberto; Carrasco, Marie-Sophie; Cascone, Enrico; Cassol, Franca; Castrejon, Noelia; Catalani, Fernando; Cerasole, Davide; Cerruti, Matteo; Chaty, Sylvain; Chen, Andrew W; Chernyakova, Maria; Chiavassa, Andrea; Chudoba, Jiří; Araujo, Carlos Henrique Coimbra; Conforti, Vito; Conte, Francesco; Contreras, Jose Luis; Cossou, Christophe; Costa, Alessandro; Costantini, Heide; Cristofari, Pierre; Cuevas, Omar; Curtis-Ginsberg, Zachary; D'Amico, Giacomo; D'Ammando, Filippo; Dadina, Mauro; Dalchenko, Mykhailo; David, Ludovic; Davids, Isak Delberth; Dazzi, Francesco; De Angelis, Alessandro; de Lavergne, Mathieu de Bony; De Caprio, Vincenzo; De Cesare, Giovanni; Pino, Elisabete M. de Gouveia Dal; De Lotto, Barbara; de Lucia, Mario; de Menezes, Raniere; de Naurois, Mathieu; Wilhelmi, Emma de Oña; De Simone, Nicola; de Souza, Vitor; Del Peral, Luis; del Valle, Maria Victoria; Delagnes, Eric; Giler, Andres Gabriel Delgado; Delgado, Carlos; Dell'aiera, Michael; Della Ceca, Roberto; Della Valle, Massimo; Della Volpe, Domenico; Depaoli, Davide; Dettlaff, Antonios; Di Girolamo, Tristano; Di Piano, Ambra; Di Pierro, Federico; Di Tria, Riccardo; Di Venere, Leonardo; Díaz-Bahamondes, Christian; Dib, Claudio; Diebold, Sebastian; Dima, Razvan; Dinesh, Adithiya; Djannati-Ataï, Arache; Djuvsland, Julia Isabel; Dominguez, Alberto; Dominik, Rune Michael; Donini, Alice; Dorner, Daniela; Dörner, Julien; Doro, Michele; Anjos, Rita de Cassia dos; Dournaux, Jean-Laurent; Dravins, Dainis; Duangchan, Chaimongkol; Dubos, Coline; Ducci, Lozenzo; Dwarkadas, Vikram V.; Ebr, Jan; Eckner, Christopher; Egberts, Kathrin; Einecke, Sabrina; Elsässer, Dominik; Emery, Gabriel; Godoy, Miguel Escobar; Escudero, Juan; Esposito, Paolo; Falceta-Gonçalves, Diego; Ramazani, Vandad Fallah; Faure, Alice; Fedorova, Elena; Fegan, Stephen; Feijen, Kirsty; Feng, Qi; Ferrand, Gilles; Ferrarotto, Fabio; Fiandrini, Emanuele; Fiasson, Armand; Fioretti, Valentina; Foffano, Luca; Guiteras, Lluis Font; Fontaine, Gerard; Fröse, Stefan; Fukami, Satoshi; Fukui, Yasuo; Funk, Stefan; Gaggero, Daniele; Galanti, Giorgio; Galaz, Gaspar; Gallant, Yves A.; Gallozzi, Stefano; Gammaldi, Viviana; Gasbarra, Claudio; Gaug, Markus; Ghalumyan, Arsen; Gianotti, Fulvio; Giarrusso, Marina; Giglietto, Nicola; Giordano, Francesco; Giuliani, Andrea; Glicenstein, Jean-Francois; Glombitza, Jonas; Goldoni, Paolo; González, José Mauricio; González, Maria Magdalena; Coelho, Jaziel Goulart; Granot, Jonathan; Grasso, Dario; Haro, Roger Grau; Green, David; Greenshaw, Tim; Grolleron, Guillaume; Grube, Jeff; Gueta, Orel; Gunji, Shuichi; Hadasch, Daniela; Hamal, Petr; Hanlon, William; Hara, Satoshi; Harvey, Violet M.; Hashiyama, Kazuaki; Hassan, Tarek; Heller, Matthieu; Cadena, Sergio Hernández; Hie, Jonathan; Hiroshima, Nagisa; Hnatyk, Bohdan; Hnatyk, Roman; Hoffmann, Dirk; Hofmann, Werner; Holler, Markus; Horan, Deirdre; Horvath, Pavel; Hovatta, Talvikki; Hrupec, Dario; Hussain, Saqib; Iarlori, Marco; Inada, Tomohiro; Incardona, Federico; Inome, Yusuke; Inoue, Susumu; Iocco, Fabio; Ishio, Kazuma; Jamrozy, Marek; Janecek, Petr; Jankowsky, Felix; Jarnot, Christian; Jean, Pierre; Martínez, Irene Jiménez; Jin, Weidong; Jocou, Laurent; Juramy-Gilles, Claire; Jurysek, Jakub; KALEKIN, Oleg; Kantzas, Dimitrios; Karas, Vladimir; Kaufmann, Sarah; Kerszberg, Daniel; Khelifi, Bruno; Kieda, David B; Kleiner, Tobias Kai; Kluźniak, Włodzimierz; Kobayashi, Yukiho; Kohri, Kazunori; Komin, Nukri; Kornecki, Paula; Kosack, Karl; Kubo, Hidetoshi; Kushida, Junko; La Barbera, Antonino; La Palombara, Nicola; Lainez, Maria; Lamastra, Alessandra; Lapington, Jon S; Lazarevic, Sanja; Lazendic-Galloway, Jasmina; Leach, Steven; Lemoine-Goumard, Marianne; Lenain, Jean-Philippe; Leto, Giuseppe; Leuschner, Fabian; Lindfors, Elina; Linhoff, Maximilian; Liodakis, Ioannis; Loïc, Lozach; Lombardi, Saverio; Longo, Francesco; López-Coto, Rubén; López-Moya, Marcos; López-Oramas, Alicia; Loporchio, Serena; Bahilo, Julio Lozano; Luque-Escamilla, Pedro L.; Macias, Oscar; Maier, Gernot; Majumdar, Pratik; Malyshev, Denys; Malyshev, Dmitry; Mandat, Dusan; Manicò, Giulio; Marinos, Peter David; Markoff, Sera; Márquez, Isabel; Marquez, Patricia; Marsella, Giovanni; Martí, Josep; Martin, Pierrick; Martínez, Gustavo Augusto; Martínez, Manel; Martinez, Oibar; Marty, Christophe; Mas-Aguilar, Alvaro; Mastropietro, Michele; Maurin, Gilles; Max-Moerbeck, Walter; Mazin, Daniel; Melkumyan, David; Menchiari, Stefano; Mestre, Enrique; Meunier, Jean-Luc; Meyer, Dominique M. -A.; Miceli, Davide; Michailidis, Miltiadis; Michałowski, Jerzy; Miener, Tjark; Miranda, Jose Miguel; Mitchell, Alison; Mizote, Masaya; Mizuno, Tsunefumi; Moderski, Rafal; Mohrmann, Lars; Molero, Miguel; Molfese, Cesare; Molina, Edgar; Montaruli, Teresa; Moralejo, Abelardo; Morcuende, Daniel; Morik, Katharina; Morselli, Aldo; Moulin, Emmanuel; Zamanillo, Victor Moya; Mukherjee, Reshmi; Munari, Kevin; Muraczewski, Adam; Muraishi, Hiroshi; Nakamori, Takeshi; Nayak, Amrit; Nemmen, Rodrigo; Nickel, Lukas; Niemiec, Jacek; Nieto, Daniel; Rosillo, Mireia Nievas; Nikołajuk, Marek; Nishijima, Kyoshi; Noda, Koji; Nosek, Dalibor; Novosyadlyj, Bohdan; Novotný, Vladimír; Nozaki, Seiya; O'Brien, Paul; Ohishi, Michiko; Ohtani, Yoshiki; Okumura, Akira; Olive, Jean-François; Olmi, Barbara; Ong, Rene A.; Orienti, Monica; Orito, Reiko; Orlandini, Mauro; Orlando, Elena; Ostrowski, Michal; Otte, Nepomuk; Oya, Igor; Pagano, Isabella; Pagliaro, Antonio; Palatiello, Michele; Panebianco, Gabriele; Paredes, Josep M.; Parmiggiani, Nicolò; Patel, Sonal Ramesh; Pavlović, Dijana; Pe'er, Asaf; Pech, Miroslav; Pecimotika, Mario; Peresano, Michele; Pérez-Romero, Judit; Peron, Giada; Persic, Massimo; Petrucci, Pierre-Olivier; Petruk, Oleh; Pfeifle, Felix; Pintore, Fabio; Pirola, Giorgio; Pittori, Carlotta; Plard, Cyann; Podobnik, Franjo; Pohl, Martin; Pons, Estelle; Prandini, Elisa; Prast, Julie; Principe, Giacomo; Priyadarshi, Chaitanya; Produit, Nicolas; Prokhorov, Dmitry; Pueschel, Elisa; Pühlhofer, Gerd; Pumo, Maria Letizia; Punch, Michael; Quirrenbach, Andreas; Raino, Silvia; Randazzo, Nunzio; Rando, Riccardo; Ravel, Thierry; Razzaque, Soebur; Regeard, Maxime; Reichherzer, Patrick; Reimer, Anita; Reimer, Olaf; Reisenegger, Andreas; Reposeur, Thierry; Reville, Brian; Rhode, Wolfgang; Ribó, Marc; Richtler, Tom; Rieger, Frank; Roache, Emmet; Fernandez, Gonzalo Rodriguez; Frías, Maria Dolores Rodríguez; Rodríguez-Vázquez, Juan José; Romano, Patrizia; Romeo, Giuseppe; Rosado, Jaime; Rowell, Gavin P; Rudak, Bronislaw; Ruiter, Ashley J.; Rulten, Cameron Boyd; Russo, Federico; Sadeh, Iftach; Saha, Lab; Saito, Takayuki; Sakurai, Shunsuke; Salzmann, Heiko; Sanchez, David; Sanchez-Conde, Miguel; Sangiorgi, Pierluca; Sano, Hidetoshi; Santander, Marcos; Santangelo, Andrea; Santos-Lima, Reinaldo; Sanuy, Andreu; Šarić, Toni; Sarkar, Arkadipta; Sarkar, Subir; Saturni, Francesco Gabriele; Savchenko, Volodymyr; Scherer, Andres; Schipani, Pietro; Schleicher, Bernd; Schovanek, Petr; Schubert, Jan Lukas; Schwanke, Ullrich; Schwefer, Georg; Scuderi, Salvatore; Arroyo, Monica Seglar; Seitenzahl, Ivo; Sergijenko, Olga; Sguera, Vito; Shang, Ruo-Yu; Sharma, Pooja; Sidibe, Guereguin Der Sylvestre; Sidoli, Lara; Siejkowski, Hubert; Siqueira, Clarissa; Sizun, Patrick; Sliusar, Vitalii; Slowikowska, Agnieszka; Sol, Helene; Specovius, Andreas; Spencer, Samuel Timothy; Spiga, Daniele; Stamerra, Antonio; Stanič, Samo; Starecki, Tomasz; Starling, Rhaana; Steppa, Constantin; Stolarczyk, Thierry; Strišković, Jelena; Strzys, Marcel C.; Suda, Yusuke; Suomijarvi, Tiina; Tak, Donggeun; Takahashi, Mitsunari; Takeishi, Ryuji; Tam, Pak-Hin Thomas; Tanaka, Shuta J; Tanaka, Takaaki; Terauchi, Kenta; Testa, Vincenzo; Tibaldo, Luigi; Tibolla, Omar; Torradeflot, Francesc; Torres, Diego F.; Torresi, Eleonora; Tothill, Nick; Toussenel, Francois; Touzard, Victoria; Tramacere, Andrea; Travnicek, Petr; Tripodo, Giovanni; Truzzi, Stefano; Tsiahina, Adellain; Tutone, Antonio; Vacula, Martin; Vallage, Bertrand; Vallania, Piero; Vallés, Ramon; van Eldik, Christopher; van Scherpenberg, Juliane; Vandenbroucke, Justin; Vassiliev, Vladimir; Venault, Philippe; Ventura, Sofia; Vercellone, Stefano; Verna, Gaia; Viana, Aion; Viaux, Nicolás; Vigliano, Alessandro; Vignatti, Jonatan; Vigorito, Carlo francesco; Vitale, Vincenzo; Vodeb, Veronika; Voisin, Vincent; Vorobiov, Serguei; Voutsinas, Georgios Gerasimos; Vovk, Ievgen; Waegebaert, Vincent; Wagner, Stefan Joachim; Walter, Roland; Ward, Martin; Wechakama, Maneenate; White, Richard; Wierzcholska, Alicja; Will, Martin; Williams, David A.; Wohlleben, Frederik; Wolter, Anna; Yamamoto, Tokonatsu; Yamazaki, Ryo; Yang, Lili; Yoshida, Tatsuo; Yoshikoshi, Takanori; Zacharias, Michael; Sanchez, Ricardo Zanmar; Zavrtanik, Danilo; Zavrtanik, Marko; Zdziarski, Andrzej A.; Zech, Andreas; Zhdanov, Valery I.; Ziȩtara, Krzysztof; Živec, Miha; Zuriaga-Puig, Jaume
Academic Journal
Di Folco, Cécile; Dubec-Fleury, Charlotte; Traschütz, Andreas; Kessler, Christoph; Reich, Selina; Gagnon, Cynthia; Lessard, Isabelle; Rodrigue, Xavier; Cocozza, Sirio; Satolli, Sara; Santorelli, Filippo M; Durr, Alexandra; Heinzmann, Anna; van de Warrenburg, Bart P; Willemse, Ilse HJ; Başak, A Nazli; Vural, Atay; Brais, Bernard; Klebe, Stephan; Horvath, Rita; PROSPAX Consortium; Schüle, Rebecca; Synofzik, Matthis; Tezenas du Montcel, Sophie
Movement Disorders.
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; Nicoline Hoogerbrugge; Olaf Riess; Alain Verloes; Lisenka E.L.M. Vissers; Teresinha Evangelista; Ana Töpf; Holm Graessner; Katja Lohmann; Rebecca Schüle; Matthis Synofzik; Sergi Beltran; Christian Gilissen; Anthony J. Brookes; Han G. Brunner; Alexander Hoischen; Leslie Matalonga; Stephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Fanni Annamária Boros; Orsolya Horváth; Rita Maszlag-Török; Mária Baranyi; Nikolett Nánási; Orsolya Oláh-Németh; Beáta Sperlágh; László Vécsei; Péter Klivényi
Scientific Reports, Vol 15, Iss 1, Pp 1-15 (2025)
Academic Journal
Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Töpf, Ana; Vissers, Lisenka E.L.M.; Beltran, Sergi; Hoischen, Alexander
Nature Medicine. 31(2):478-489
Academic Journal
Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A.; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G.; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Solve-RD DITF-ITHACA, Solve-RD DITF-Euro-NMD, Solve-RD DITF-RND, Solve-RD DITF-EpiCARE; Matalonga, Leslie; Laurie, Steven; Brunner, Han G.; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E.LM.; Gilissen, Christian; Hoischen, Alexander; Solve-RD consortium
Genome Res
Genome research 35(4), 755-768 (2025). doi:10.1101/gr.279414.124
Genome Research, 35, 4, pp. 755-768
Genome research
Genome research 35(4), 755-768 (2025). doi:10.1101/gr.279414.124
Genome Research, 35, 4, pp. 755-768
Genome research
Academic Journal
Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Galassi Deforie, Valentina; Fernández-Eulate, Gorka; Traschütz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H; Albájar, Inés; Ashton, Catherine; Beauchamp, Nick; Beecroft, Sarah J; Bellone, Emilia; Berciano, Josè; Bogdanova-Mihaylova, Petya; Borroni, Barbara; Brais, Bernard; Bugiardini, Enrico; Campos, Catarina; Carr, Aisling; Carroll, Liam; Castellani, Francesca; Cavallaro, Tiziana; Chinnery, Patrick F; Colnaghi, Silvia; Cosentino, Giuseppe; Damasio, Joana; Das, Soma; Devigili, Grazia; Di Bella, Daniela; Dick, David; Durr, Alexandra; El-Saddig, Amar; Faber, Jennifer; Ferrarini, Moreno; Filosto, Massimiliano; Fuller, Geraint; Gallone, Salvatore; Gemelli, Chiara; Grandis, Marina; Hardy, John; Hewamadduma, Channa; Horvath, Rita; Huin, Vincent; Imperiale, Daniele; Iruzubieta, Pablo; Kaski, Diego; King, Andrew; Klockgether, Thomas; Koç, Müge; Kumar, Kishore R; Kuntzer, Thierry; Laing, Nigel; Laurà, Matilde; Lavin, Timothy; Leigh, Peter Nigel; Leonardis, Lea; Lunn, Michael P; Magri, Stefania; Magrinelli, Francesca; Malaquias, Maria João; Mancuso, Michelangelo; Manji, Hadi; Massucco, Sara; McConville, John; Munhoz, Renato P; Nagy, Sara; Ndayisaba, Alain; Nemeth, Andrea Hilary; Novis, Luiz Eduardo; Palmio, Johanna; Pegoraro, Elena; Pellerin, David; Perrone, Benedetta; Pisciotta, Chiara; Polke, James; Proudfoot, Malcolm; Orsi, Laura; Radunovic, Aleksandar; Riva, Nilo; Robert, Aiko; Ronco, Riccardo; Rossini, Elena; Rossor, Alex M; Şahbaz, Irmak; Sa’di, Qais; Salsano, Ettore; Salvalaggio, Alessandro; Santoro, Lucio; Sarto, Elisa; Schaefer, Andrew; Schenone, Angelo; Scriba, Carolin; Shaw, Joseph; Silvestri, Gabriella; Stevens, James; Strupp, Michael; Sumner, Charlotte J; Szymura, Agnieszka; Tagliapietra, Matteo; Tassorelli, Cristina; Tessa, Alessandra; Theaudin, Marie; Tomaselli, Pedro; Tozza, Stefano; Tucci, Arianna; Valente, Enza Maria; Versino, Maurizio; Walsh, Richard A; Wood, Nick W; Yau, Way Yan; Zuchner, Stephan; Parolin Schnekenberg, Ricardo; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; Lòpez de Munaìn, Adolfo; Manganelli, Fiore; Kennerson, Marina; Santorelli, Filippo Maria; Infante, Jon; Marques, Wilson; Jokela, Manu; Murphy, Sinéad M; Mandich, Paola; Fabrizi, Gian Maria; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, James; Troakes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthis; Stojkovic, Tanya; Hadjivassiliou, Marios; Reilly, Mary M; Houlden, Henry; Cortese, Andrea; null, null
Brain
O2, repositorio institucional de la UOC
Universitat Oberta de Catalunya (UOC)
Brain 147(5), 1887-1898 (2024). doi:10.1093/brain/awad436
Brain, vol. 147, no. 5, pp. 1887-1898
O2, repositorio institucional de la UOC
Universitat Oberta de Catalunya (UOC)
Brain 147(5), 1887-1898 (2024). doi:10.1093/brain/awad436
Brain, vol. 147, no. 5, pp. 1887-1898
Academic Journal
Szarvas, Zsofia; Fekete, Monika; Szollosi, Gergo Jozsef; Kup, Katica; Horvath, Rita; Shimizu, Maya; Tsuhiya, Fuko; Choi, Ha Eun; Wu, Huang-Tzu; Fazekas-Pongor, Vince; Pete, Kinga Nedda; Cserjesi, Renata; Bakos, Regina; Gobel, Orsolya; Gyongyosi, Kata; Pinter, Renata; Kolozsvari, Dora; Kovats, Zsuzsanna; Yabluchanskiy, Andriy; Owens, Cameron D.; Ungvari, Zoltan; Tarantini, Stefano; Horvath, Gabor; Muller, Veronika; Varga, Janos Tamas
GeroScience: Official Journal of the American Aging Association (AGE). 46(5):4163-4183
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
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