학술논문
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Academic Journal
In Trends in Neurosciences March 2024 47(3):227-238
Academic Journal
De Ridder, Willem; de Vries, Geert; Van Schil, Kristof; Deconinck, Tine; Mouly, Vincent; Straub, Volker; Baets, Jonathan
In Neuromuscular Disorders May 2023 33(5):432-439
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Efthymiou, Stephanie; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; Pfundt, Rolph; Safraou, Hana; Thauvin-Robinet, Christel; Thevenon, Julien; Tran Mau-Them, Frédéric; de Vries, Bert B.A.; Willemsen, Marjolein H.; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Ehnert, Sabrina; Hauser, Stefan; Hengel, Holger; Höflinger, Philip; Schüle, Rebecca; Lindig, Tobias; Baets, Jonathan; Deconinck, Tine; de Jonghe, Peter; Histing, Tina; Nüssler, Andreas K.; Schöls, Ludger; Rattay, Tim W.
Academic Journal
In Neuromuscular Disorders November 2021 31(11):1154-1160
Academic Journal
De Bleecker, Jan L.; De Koning, Kathy; De Mey, Katrien; De Pue, Annelien; Mercelis, Rudolf; Wyckmans, Maren; Vinck, Caroline; Wagemaekers, Linda; Baets, Jonathan; Ng, Eduardo; Shabanpour, Jafar; Daniyal, Lubna; Mannan, Shabber; Katzberg, Hans D.; Genge, Angela; Siddiqi, Zaeem; Junkerová, Jana; Horakova, Jana; Reguliova, Katerina; Tyblova, Michaela; Jurajdova, Ivana; Novakova, Iveta; Jakubikova, Michala; Pitha, Jiri; Vohanka, Stanislav; Havelkova, Katerina; Horak, Tomas; Bednarik, Josef; Horakova, Mageda; Meisel, Andreas; Remstedt, Dike; Heibutzki, Claudia; Kohler, Siegfried; Gerischer, Lea; Hoffman, Sarah; Stascheit, Frauke; Vissing, John; Zafirakos, Lizzie; Khatri, Kuldeep Kumar; Autzen, Anne; Godtfeldt Stemmerik, Mads Peter; Andersen, Henning; Attarian, Shahram; Salort-Campana, Emmanuelle; Delmont, Emilien; Grapperon, Aude-Marie; Kouton, Ludivine; Tsiskaridze, Alexander; Rózsa, Csilla; Jakab, Gedeonne Margo; Toth, Szilvia; Szabo, Gyorgyi; Bors, David; Szabo, Eniko; Campanella, Angela; Vanoli, Fiammetta; Frangiamore, Rita; Antozzi, Carlo; Bonanno, Silvia; Maggi, Lorenzo; Giossi, Riccardo; Saccà, Francesco; Marsili, Angela; Pane, Chiara; Puorro, Giorgia; Reia, Antonio; Antonini, Giovanni; Alfieri, Girolamo; Morino, Stefania; Garibaldi, Matteo; Fionda, Laura; Leonardi, Luca; Konno, Shingo; Uzawa, Akiyuki; Sakuma, Kaoru; Watanabe, Chiho; Ozawa, Yukiko; Yasuda, Manato; Onishi, Yosuke; Samukawa, Makoto; Tsuda, Tomoko; Suzuki, Yasushi; Ishida, Sayaka; Watanabe, Genya; Takahashi, Masanori; Nakamura, Hiroko; Sugano, Erina; Kubota, Tomoya; Imai, Tomihiro; Suzuki., Mari; Mori, Ayako; Yamamoto, Daisuke; Ikeda, Kazuna; Hisahara, Shin; Masuda, Masayuki; Takaki, Miki; Minemoto, Kanako; Ido, Nobuhiro; Naito, Makiko; Okubo, Yoshihiko; Sugimoto, Takamichi; Takematsu, Yuka; Kamei, Ayumi; Shimizu, Mihiro; Naito, Hiroyuki; Nomura, Eiichi; Van Heur, Marjolein; Peters, Anne-Marie; Tannemaat, Martijn; Ruiter, Annabel; Keene, Kevin; Halas, Marek; Szczudlik, Andrzej; Pinkosz, Marta; Frasinska, Monika; Zwolinska, Grazyna; Kostera-Pruszczyk, Anna; Golenia, Aleksandra; Szczudlik, Piotr; Szczechowski, Lech; Pasko, Aneta; Poverennova, Irina; Urtaeva, Lubov; Kuznetsova, Nadezhda; Romanova, Tatiana; Nadezhda, Malkova; Lapochka, Elena; Korobko, Denis; Vergunova, Ilona; Melnikova, Anna; Bulatova, Ekaterina; Antipenko, Elena; Basta, Ivana; Bozovic, Ivo; Lavrnic, Dragana; Stojanovic, Vidosava Rakocevic; Beydoun, Said; Akhter, Salma; Malekniazi, Ali; Darki, Leila; Pimentel, Norianne; Cannon, Victoria; Chopra, Manisha; Traub, Rebecca; Mozaffar, Tahseen; Hernandez, Isela; Turner, Ivonne; Habib, Ali; Goyal, Namita; Kak, Manisha; Velasquez, Erik; Lam, Lucy; Suresh, Niraja; Farias, Jerrica; Jones, Sarah; Wagoner, Mary; Eggleston, Debbie; Bertorini, Tulio; Benzel, Cindy; Henegar, Robert; Pillai, Rekha; Bharavaju-Sanka, Ratna; Paiz, Carolyn; Jackson, Carlayne; Ruzhansky, Katherine; Dimitrova, Diana; Visser, Amy; Chahin, Nizar; Levine, Todd; Lisak, Robert; Jia, Kelly; Mada, Flicia; Bernitsas, Evanthia; Pasnoor, Mamatha; Roath, Katherine; Colgan, Samantha; Currence, Melissa; Heim, Andrew; Barohn, Richard; Dimachkie, Mazen; Statland, Jeffrey; Jawdat, Omar; Jabari, Duaa; Farmakidis, Constantine; Gilchrist, James; Li, Yuebing; Caristo, Irys; Hastings, Debbie; Morren, John Anthony; Weiss, Michael; Muppidi, Srikanth; Nguyen, Tia; Welsh, Lesly; So, Yuen; Goyal, Neelam; Pulley, Michael; Bailey, Cathy; Quraishi, Zubair; Berger, Alan; Sahagian, Gregory; Camberos, Yasmin; Frishberg, Benjamin; Howard, James F, Jr ; Bril, Vera; Vu, Tuan; Karam, Chafic; Peric, Stojan; Margania, Temur; Murai, Hiroyuki; Bilinska, Malgorzata; Shakarishvili, Roman; Smilowski, Marek; Guglietta, Antonio; Ulrichts, Peter; Vangeneugden, Tony; Utsugisawa, Kimiaki; Verschuuren, Jan; Mantegazza, Renato
In The Lancet Neurology July 2021 20(7):526-536
Academic Journal
Hanna, Michael G; Badrising, Umesh A; Benveniste, Olivier; Lloyd, Thomas E; Needham, Merrilee; Chinoy, Hector; Aoki, Masashi; Machado, Pedro M; Liang, Christina; Reardon, Katrina A; de Visser, Marianne; Ascherman, Dana P; Barohn, Richard J; Dimachkie, Mazen M; Miller, James A L; Kissel, John T; Oskarsson, Björn; Joyce, Nanette C; Van den Bergh, Peter; Baets, Jonathan; De Bleecker, Jan L; Karam, Chafic; David, William S; Mirabella, Massimiliano; Nations, Sharon P; Jung, Hans H; Pegoraro, Elena; Maggi, Lorenzo; Rodolico, Carmelo; Filosto, Massimiliano; Shaibani, Aziz I; Sivakumar, Kumaraswamy; Goyal, Namita A; Mori-Yoshimura, Madoka; Yamashita, Satoshi; Suzuki, Naoki; Katsuno, Masahisa; Murata, Kenya; Nodera, Hiroyuki; Nishino, Ichizo; Romano, Carla D; Williams, Valerie S L; Vissing, John; Auberson, Lixin Zhang; Wu, Min; de Vera, Ana; Papanicolaou, Dimitris A; Amato, Anthony A
In The Lancet Neurology September 2019 18(9):834-844
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Academic Journal
Tedesco, Barbara; Vendredy, Leen; Adriaenssens, Elias; Cozzi, Marta; Asselbergh, Bob; Crippa, Valeria; Cristofani, Riccardo; Rusmini, Paola; Ferrari, Veronica; Casarotto, Elena; Chierichetti, Marta; Mina, Francesco; Pramaggiore, Paola; Galbiati, Mariarita; Piccolella, Margherita; Baets, Jonathan; Baeke, Femke; De Rycke, Riet; Mouly, Vincent; Laurenzi, Tommaso; Eberini, Ivano; Vihola, Anna; Udd, Bjarne; Weiss, Lan; Timmerman, Vincent; Poletti, Angelo; Kimonis, Virginia
Autophagy. 19(8)
In Neuromuscular Disorders March 2024 36:38-41
Academic Journal
Malcorps, Matilde; Amor-Barris, Silvia; Burnyte, Birute; Vilimiene, Ramune; Armirola-Ricaurte, Camila; Grigalioniene, Kristina; Ekshteyn, Alexandra; Morkuniene, Ausra; Vaitkevicius, Arunas; De Vriendt, Els; Baets, Jonathan; Scherer, Steven S.; Ambrozaityte, Laima; Utkus, Algirdas; Jordanova, Albena; Peeters, Kristien
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