학술논문
'학술논문'
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1~10
Academic Journal
Lorenzoni, Paulo José; Ducci, Renata Dal-Pra; Arndt, Raquel Cristina; Hrysay, Nyvia Milicio Coblinski; Fustes, Otto Jesus Hernandez; Töpf, Ana; Lochmüller, Hanns; Werneck, Lineu Cesar; Kay, Cláudia Suemi Kamoi; Scola, Rosana Herminia
Arquivos de Neuro-Psiquiatria. January 2022 80(1)
Academic Journal
Natera-de Benito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Afonso Ribeiro, Joana; Fernández-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estévez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmüller, Hanns; Selcen, Duygu
In Pediatric Neurology August 2024 157:5-13
Academic Journal
Polavarapu, Kiran; O'Neil, Daniel; Thompson, Rachel; Spendiff, Sally; Nandeesh, Bevinahalli; Vengalil, Seena; Huddar, Akshata; Baskar, Dipti; Arunachal, Gautham; Kotambail, Ananthapadmanabha; Bhatia, Saloni; Tumulu, Seetam Kumar; Matalonga, Leslie; Töpf, Ana; Laurie, Steven; Zeldin, Joshua; Nashi, Saraswati; Unnikrishnan, Gopikrishnan; Nalini, Atchayaram; Lochmüller, Hanns
In Neuromuscular Disorders June 2024 39:10-18
Academic Journal
Tawil, Rabi ; Wagner, Kathryn R ; Hamel, Johanna I; Leung, Doris G; Statland, Jeffrey M; Wang, Leo H; Genge, Angela; Sacconi, Sabrina; Lochmüller, Hanns; Reyes-Leiva, David; Diaz-Manera, Jordi; Alonso-Perez, Jorge; Muelas, Nuria; Vilchez, Juan J; Pestronk, Alan; Gibson, Summer; Goyal, Namita A; Hayward, Lawrence J; Johnson, Nicholas; LoRusso, Samantha; Freimer, Miriam; Shieh, Perry B; Subramony, S H; van Engelen, Baziel; Kools, Joost; Leinhard, Olof Dahlqvist; Widholm, Per; Morabito, Christopher; Moxham, Christopher M; Cadavid, Diego; Mellion, Michelle L; Odueyungbo, Adefowope; Tracewell, William G; Accorsi, Anthony; Ronco, Lucienne; Gould, Robert J; Shoskes, Jennifer; Rojas, Luis Alejandro; Jiang, John G
In The Lancet Neurology May 2024 23(5):477-486
Academic Journal
Günther, René; Wurster, Claudia Diana; Brakemeier, Svenja; Osmanovic, Alma; Schreiber-Katz, Olivia; Petri, Susanne; Uzelac, Zeljko; Hiebeler, Miriam; Thiele, Simone; Walter, Maggie C.; Weiler, Markus; Kessler, Tobias; Freigang, Maren; Lapp, Hanna Sophie; Cordts, Isabell; Lingor, Paul; Deschauer, Marcus; Hahn, Andreas; Martakis, Kyriakos; Steinbach, Robert; Ilse, Benjamin; Rödiger, Annekathrin; Bellut, Julia; Nentwich, Julia; Zeller, Daniel; Muhandes, Mohamad Tareq; Baum, Tobias; Christoph Koch, Jan; Schrank, Bertold; Fischer, Sophie; Hermann, Andreas; Kamm, Christoph; Naegel, Steffen; Mensch, Alexander; Weber, Markus; Neuwirth, Christoph; Lehmann, Helmar C.; Wunderlich, Gilbert; Stadler, Christian; Tomforde, Maike; George, Annette; Groß, Martin; Pechmann, Astrid; Kirschner, Janbernd; Türk, Matthias; Schimmel, Mareike; Bernert, Günther; Martin, Pascal; Rauscher, Christian; Meyer zu Hörste, Gerd; Baum, Petra; Löscher, Wolfgang; Flotats-Bastardas, Marina; Köhler, Cornelia; Probst-Schendzielorz, Kristina; Goldbach, Susanne; Schara-Schmidt, Ulrike; Müller-Felber, Wolfgang; Lochmüller, Hanns; von Velsen, Otgonzul; Kleinschnitz, Christoph; Ludolph, Albert C.; Hagenacker, Tim
In The Lancet Regional Health - Europe April 2024 39
Academic Journal
Daniel, Eden; Smith, Ian C.; Ly, Valentina; Bourque, Pierre R.; Breiner, Ari; Lochmuller, Hanns; Maltez, Nancy; Thavorn, Kednapa; Warman-Chardon, Jodi
Academic Journal
Carmody, Leigh C.; Gargano, Michael A.; Toro, Sabrina; Vasilevsky, Nicole A.; Adam, Margaret P.; Blau, Hannah; Chan, Lauren E.; Gomez-Andres, David; Horvath, Rita; Kraus, Megan L.; Ladewig, Markus S.; Lewis-Smith, David; Lochmüller, Hanns; Matentzoglu, Nicolas A.; Munoz-Torres, Monica C.; Schuetz, Catharina; Seitz, Berthold; Similuk, Morgan N.; Sparks, Teresa N.; Strauss, Timmy; Swietlik, Emilia M.; Thompson, Rachel; Zhang, Xingmin Aaron; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N.
In Med 8 December 2023 4(12):913-927
Academic Journal
Smith, Ian C.; Chakraborty, Shaoni; Bourque, Pierre R.; Sampaio, Marcos L.; Melkus, Gerd; Lochmüller, Hanns; Woulfe, John; Parks, Robin J.; Brais, Bernard; Warman-Chardon, Jodi
In Neuromuscular Disorders November 2023 33(11):824-834
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)
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