학술논문
'학술논문'
에서 검색결과 251건 | 목록
1~10
Academic Journal
Crystal M. Proud; Eugenio Mercuri; Richard S. Finkel; Janbernd Kirschner; Darryl C. De Vivo; Francesco Muntoni; Kayoko Saito; Eduardo F. Tizzano; Isabelle Desguerre; Susana Quijano‐Roy; Kamal Benguerba; Dheeraj Raju; Eric Faulkner; Laurent Servais
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)
Academic Journal
Yaou, Rabah Ben; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D’Amico, Adele; Deconinck, Nicolas; Desguerre, Isabelle; Erazo-Torricelli, Ricardo; Gurgel-Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Alvarez, Rachel; Francesco, Muntoni F; Pierson, Tyler M; Gómez-Andrés, David; Foley, A Reghan; Quijano-Roy, Susana; Bönnemann, Carsten G; Bonne, Gisèle
Brain Communications. 3(3)
Academic Journal
Glenn Carrington; Abbi Hau; Sarah Kosta; Hannah F. Dugdale; Francesco Muntoni; Adele D’Amico; Peter Van den Bergh; Norma B. Romero; Edoardo Malfatti; Juan Jesus Vilchez; Anders Oldfors; Sander Pajusalu; Katrin Õunap; Marta Giralt-Pujol; Edmar Zanoteli; Kenneth S. Campbell; Hiroyuki Iwamoto; Michelle Peckham; Julien Ochala
JCI Insight, Vol 8, Iss 21 (2023)
Academic Journal
Deconinck, Nicolas; Van Coster, Rudy; Vanlander, Arnaud; Seferian, Andreea; De Lucia, Silvana; Gidaro, Teresa; Brande, Laura Vanden; Servais, Laurent; Kirschner, Janbernd; Borell, Sabine; Mercuri, Eugenio; Brogna, Claudia; Pane, Marika; Fanelli, Lavinia; Norcia, Giulia; Muntoni, Francesco; Brusa, Chiara; Chesshyre, Mary; Maresh, Kate; Pitchforth, Jaqueline; Schottlaender, Lucia; Scoto, Mariacristina; Silwal, Arpana; Trucco, Fedrica; Mercuri, E.; Seferian, A.M.; Servais, L.; Deconinck, N.; Stevenson, H.; Ni, X.; Zhang, W.; East, L.; Yonren, S.; Muntoni, F.
In Neuromuscular Disorders June 2023 33(6):476-483
Academic Journal
Dharmayat, Kanika Inamdar ; Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Brandts, Julia M.; Lyons, Alexander R.M.; Groselj, Urh; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Alhabib, Khalid; Alkhnifsawi, Mutaz; Almahmeed, Wael; Alnouri, Fahad; Alonso, Rodrigo; Al-Rasadi, Khalid; Ashavaid, Tester F.; Banach, Maciej; Béliard, Sophie; Binder, Christoph; Bourbon, Mafalda; Chlebus, Krzysztof; Corral, Pablo; Cruz, Diogo; Descamps, Olivier S.; Drogari, Euridiki; Durst, Ronen; Ezhov, Marat V.; Genest, Jacques; Harada-Shiba, Mariko; Holven, Kirsten B.; Humphries, Steve E.; Khovidhunkit, Weerapan; Lalic, Katarina; Laufs, Ulrich; Liberopoulos, Evangelos; Roeters van Lennep, Jeanine; Lima-Martinez, Marcos Miguel; Lin, Jie; Maher, Vincent; März, Winfried; Miserez, André R.; Mitchenko, Olena; Nawawi, Hapizah; Panayiotou, Andrie G.; Paragh, György; Postadzhiyan, Arman; Reda, Ashraf; Reiner, Željko; Reyes, Ximena; Sadiq, Fouzia; Sahebkar, Amirhossein; Schunkert, Heribert; Shek, Aleksandr B.; Stroes, Eric; Su, Ta-Chen; Subramaniam, Tavintharan; Susekov, Andrey; Vázquez Cárdenas, Alejandra; Huong Truong, Thanh; Tselepis, Alexandros D.; Vohnout, Branislav; Wang, Luya; Yamashita, Shizuya; Al-Sarraf, Ahmad; Al-Sayed, Nasreen; Davletov, Kairat; Dwiputra, Bambang; Gaita, Dan; Kayikcioglu, Meral; Latkovskis, Gustavs; Marais, A. David; Thushara Matthias, Anne; Mirrakhimov, Erkin; Nordestgaard, Børge G.; Petrulioniene, Zaneta; Pojskic, Belma; Sadoh, Wilson; Tilney, Myra; Tomlinson, Brian; Tybjærg-Hansen, Anne; Viigimaa, Margus; Catapano, Alberico L.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; Soran, Handrean; Raal, Frederick; Watts, Gerald F.; Schreier, Laura; Bañares, Virginia; Greber-Platzer, Susanne; Baumgartner-Kaut, Margot; de Gier, Charlotte; Dieplinger, Hans; Höllerl, Florian; Innerhofer, Reinhold; Karall, Daniela; Lischka, Julia; Ludvik, Bernhard; Mäser, Martin; Scholl-Bürgi, Sabine; Thajer, Alexandra; Toplak, Hermann; Demeure, Fabian; Mertens, Ann; Balligand, Jean-Luc; Stephenne, Xavier; Sokal, Etienne; Petrov, Ivo; Goudev, Assen; Nikolov, Fedya; Tisheva, Snejana; Yotov, Yoto; Tzvetkov, Ivajlo; Hegele, Robert A; Gaudet, Daniel; Brunham, Liam; Ruel, Isabelle; McCrindle, Brian; Cuevas, Ada; Perica, Dražen; Symeonides, Phivos; Trogkanis, Efstratios; Kostis, Andreas; Ioannou, Andreas; Mouzarou, Angeliki; Georgiou, Anthoula; Stylianou, Andreas; Miltiadous, George; Iacovides, Paris; Deltas, Constantinos; Vrablik, Michal; Urbanova, Zuzana; Jesina, Pavel; Tichy, Lukas; Hyanek, Josef; Dvorakova, Jana; Cepova, Jana; Sykora, Josef; Buresova, Kristyna; Pipek, Michal; Pistkova, Eva; Bartkova, Ivana; S|ulakova, Astrid; Toukalkova, Lenka; Spenerova, Michaela; Maly, Jan; Benn, Marianne; Bendary, Ahmed; Elbahry, Atef; Ferrières, Jean; Ferrieres, Dorota; Peretti, Noel; Bruckert, Eric; Gallo, Antonio; Valero, René; Mourre, Florian; Aouchiche, Karine; Reynaud, Rachel; Tounian, Patrick; Lemale, Julie; Boccara, Franck; Moulin, Philippe; Charrières, Sybil; Di Filippo, Mathilde; Cariou, Bertrand; Paillard, François; Dourmap, Caroline; Pradignac, Alain; Verges, Bruno; Simoneau, Isabelle; Farnier, Michel; Cottin, Yves; Yelnik, Cecile; Hankard, Regis; Schiele, François; Durlach, Vincent; Sultan, Ariane; Carrié, Alain; Rabès, Jean-Pierre; Sanin, Veronika; Schmieder, Raphael S.; Ates, Sara; Rizos, Christos V.; Skoumas, Ioannis; Tziomalos, Konstantinos; Rallidis, Loukianos; Kotsis, Vasileios; Doumas, Michalis; Skalidis, Emmanouil; Kolovou, Genovefa; Kolovou, Vana; Garoufi, Anastasia; Koutagiar, Iosif; Polychronopoulos, Georgios; Kiouri, Estela; Antza, Christina; Zacharis, Evangelos; Attilakos, Achilleas; Sfikas, George; Koumaras, Charalambos; Anagnostis, Panagiotis; Anastasiou, Georgia; Liamis, George; Adamidis, Petros-Spyridon; Milionis, Haralambos; Lambadiari, Vaia; Stabouli, Stella; Filippatos, Theodosios; Mollaki, Vicky; Tsaroumi, Anastasia; Lamari, Frida; Proyias, Pavlos; Harangi, Mariann; Reddy, Lakshmi Lavanya; Shah, Swarup A. V; Ponde, Chandrashekhar K.; Dalal, Jamshed J.; Sawhney, Jitendra P.S.; Verma, Ishwar C.; Hosseini, Susan; Jamialahmadi, Tannaz; Alareedh, Mohammed; Shaghee, Foaad; Rhadi, Sabah Hasan; Abduljalal, Maryam; Alfil, Sarmad; Kareem, Huda; Cohen, Hofit; Leitersdorf, Eran; Schurr, Daniel; Shpitzen, Shoshi; Arca, Marcello; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia; Casula, Manuela; Galimberti, Federica; Gazzotti, Marta; Olmastroni, Elena; Sarzani, Riccardo; Ferri, Claudio; Repetti, Elena; Giorgino, Francesco; Suppressa, Patrizia; Bossi, Antonio Carlo; Borghi, Claudio; Muntoni, Sandro; Cipollone, Francesco; Scicali, Roberto; Pujia, Arturo; Passaro, Angelina; Berteotti, Martina; Pecchioli, Valerio; Pisciotta, Livia; Mandraffino, Giuseppe; Pellegatta, Fabio; Mombelli, Giuliana; Branchi, Adriana; Fiorenza, Anna Maria; Pederiva, Cristina; Werba, José Pablo; Parati, Gianfranco; Nascimbeni, Fabio; Iughetti, Lorenzo; Fortunato, Giuliana; Cavallaro, Raimondo; Iannuzzo, Gabriella; Calabrò, Paolo; Cefalù, Angelo Baldassare; Capra, Maria Elena; Zambon, Alberto; Pirro, Matteo; Sbrana, Francesco; Trenti, Chiara; Minicocci, Ilenia; Federici, Massimo; Del Ben, Maria; Buonuomo, Paola Sabrina; Moffa, Simona; Pipolo, Antonio; Citroni, Nadia; Guardamagna, Ornella; Lia, Salvatore; Benso, Andrea; Biolo, Gianni Biolo; Maroni, Lorenzo; Lupi, Alessandro; Bonanni, Luca; Rinaldi, Elisabetta; Zenti, Maria Grazia; Masuda, Daisaku; Mahfouz, Linda; Jambart, Selim; Ayoub, Carine; Ghaleb, Youmna; Kasim, Noor Alicezah Mohd; Nor, Noor Shafina Mohd; Al-Khateeb, Alyaa; Kadir, Siti Hamimah Sheikh Abdul; Chua, Yung-An; Razman, Aimi Zafira; Nazli, Sukma Azureen; Ranai, Norashikin Mohd; Latif, Ahmad Zubaidi Abd; Torres, María Teresa Magaña; Mehta, Roopa; Martagon, Alexandro J.; Ramirez, Gabriela A. Galan; Antonio-Villa, Neftali Eduardo; Vargas-Vazquez, Arsenio; Elias-Lopez, Daniel; Retana, Gustavo Gonzalez; Encinas, Bethsabel Rodrıguez; Macıas, Jose J. Ceballos; Zazueta, Alejandro Romero; Alvarado, Rocio Martinez; Portano, Julieta D. Morales; Lopez, Humberto Alvares; Sauque-Reyna, Leobardo; Gomez Herrera, Laura G.; Simental Mendia, Luis E.; Aguilar, Humberto Garcia; Cooremans, Elizabeth Ramirez; Aparicio, Berenice Pe~na; Zubieta, Victoria Mendoza; Gonzalez, Perla A. Carrillo; Ferreira-Hermosillo, Aldo; Portilla, Nacu Caracas; Dominguez, Guadalupe Jimenez; Garcia, Alinna Y. Ruiz; Arriaga Cazares, Hector E.; Gonzalez Gonzalez, Jesus R.; Mendez Valencia, Carla V.; Padilla Padilla, Francisco G.; Prado, Ramon Madriz; De los Rios Ibarra, Manuel O.; Arjona Villica~na, Ruy D.; Acevedo Rivera, Karina J.; Carrera, Ricardo Allende; Alvarez, Jose A.; Amezcua Martinez, Jose C.; Barrera Bustillo, Manuel de los Reyes; Vargas, Gonzalo Carazo; Chacon, Roberto Contreras; Figueroa Andrade, Mario H.; Ortega, Ashanty Flores; Alcala, Hector Garcia; Garcia de Leon, Laura E.; Guzman, Berenice Garcia; Gardu~no Garcia, Jose J.; Garnica Cuellar, Juan C.; Gomez Cruz, Jose R.; Garcia, Anell Hernandez; Holguin Almada, Jesus R.; Herrera, Ursulo Juarez; Sobrevilla, Fabiola Lugo; Rodriguez, Eduardo Marquez; Sibaja, Cristina Martinez; Medrano Rodriguez, Alma B.; Morales Oyervides, Jose C.; Perez Vazquez, Daniel I.; Reyes Rodriguez, Eduardo A.; Osorio, Ma. Ludivina Robles; Saucedo, Juan Rosas; Tamayo, Margarita Torres; Valdez Talavera, Luis A.; Vera Arroyo, Luis E.; Zepeda Carrillo, Eloy A.; Galema-Boers, Annette; Weigman, Albert; Bogsrud, Martin P.; Malik, Munir; Shah, Saeedullah; Khan, Sabeen Abid; Rana, Muhammad Asim; Batool, Hijab; Starostecka, Ewa; Konopka, Agnieszka; Lewek, Joanna; Bielecka-Dąbrowa, Agata; Gach, Agnieszka; Jóźwiak, Jacek; Pajkowski, Marcin; Romanowska-Kocejko, Marzena; Żarczyńska-Buchowiecka, Marta; Hellmann, Marcin; Chmara, Magdalena; Wasąg, Bartosz; Parczewska, Aleksandra; Gilis-Malinowska, Natasza; Borowiec-Wolna, Justyna; Stróżyk, Aneta; Michalska-Grzonkowska, Aleksandra; Chlebus, Izabela; Kleinschmidt, Mariola; Wojtecka, Agnieszka; Zdrojewski, Tomasz; Myśliwiec, Małgorzata; Hennig, Matylda; Medeiros, Ana Margarida; Alves, Ana Catarina; Almeida, Ana Filipa; Lopes, Andreia; Guerra, António; Bilhoto, Carla; Simões, Fernando; Silva, Francisco; Lobarinhas, Goreti; Gama, Guida; Palma, Isabel; Salgado, José Miguel; Matos, Luísa Diogo; Moura, Márcio de; Virtuoso, Maria João; Tavares, Mónica; Ferreira, Patrícia; Pais, Patrícia; Garcia, Paula; Coelho, Raquel; Ribeiro, Raquel; Correia, Susana; Sadykova, Dinara; Slastnikova, Evgenia; Alammari, Dalal; Mawlawi, Horia Ahmed; Alsahari, Atif; Khudary, Alia Abdullah; Alrowaily, Nawal Lafi; Rajkovic, Natasa; Popovic, Ljiljana; Singh, Sandra; Rasulic, Iva; Petakov, Ana; Lalic, Nebojsa M.; Peng, Fabian Kok; Vasanwala, Rashida Farhan; Venkatesh, Sreedharan Aravind; Raslova, Katarina; Fabryova, Lubomira; Nociar, Jan; Šaligova, Jana; Potočňáková, Ludmila; Kozárová, Miriam; Varga, Tibor; Kadurova, Michaela; Debreova, Marianna; Novodvorsky, Peter; Gonova, Katarina; Klabnik, Alexander; Buganova, Ingrid; Battelino, Tadej; Bizjan, Barbara Jenko; Debeljak, Marusa; Kovac, Jernej; Mlinaric, Matej; Molk, Neza; Sikonja, Jaka; Sustar, Ursa; Podkrajsek, Katarina Trebusak; Muñiz-Grijalvo, Ovidio; Díaz-Díaz, Jose Luis; de Andrés, Raimundo; Fuentes-Jiménez, Francisco; Blom, Dirk; Miserez, Eleonore B.; Shipton, Janine L.; Ganokroj, Poranee; Futema, Marta; Ramaswami, Uma; Alieva, Rano B.; Fozilov, Khurshid G.; Khoshimov, Shavkat U.; Nizamov, Ulugbek I.; Abdullaeva, Guzal J.; Kan, Liliya E.; Abdullaev, Alisher A.; Zakirova, Daria V.; Do, Doan-Loi; Nguyen, Mai-Ngoc-Thi; Kim, Ngoc-Thanh; Le, Thanh-Tung; Le, Hong-An; Santos, Raul; Ray, Kausik K.
In The Lancet 6-12 January 2024 403(10421):55-66
Academic Journal
Kirschner, Janbernd; Bernert, Günther; Butoianu, Nina; De Waele, Liesbeth; Fattal-Valevski, Aviva; Haberlova, Jana; Moreno, Teresa; Klein, Andrea; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F.; van der Pol, W Ludo; Wallace, Sean; Zafeiriou, Dimitrios; Ziegler, Andreas; Muntoni, Francesco; Servais, Laurent
In European Journal of Paediatric Neurology July 2024 51:73-78
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
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
Sherlock, Sarah P.; Palmer, Jeffrey; Wagner, Kathryn R.; Abdel-Hamid, Hoda Z.; Bertini, Enrico; Tian, Cuixia; Mah, Jean K.; Kostera-Pruszczyk, Anna; Muntoni, Francesco; Guglieri, Michela; Brandsema, John F.; Mercuri, Eugenio; Butterfield, Russell J.; McDonald, Craig M.; Charnas, Lawrence; Marraffino, Shannon
Journal of Neurology. 269(8):4421-4435
Academic Journal
Hong Joo Kim; Payam Mohassel; Sandra Donkervoort; Lin Guo; Kevin O’Donovan; Maura Coughlin; Xaviere Lornage; Nicola Foulds; Simon R. Hammans; A. Reghan Foley; Charlotte M. Fare; Alice F. Ford; Masashi Ogasawara; Aki Sato; Aritoshi Iida; Pinki Munot; Gautam Ambegaonkar; Rahul Phadke; Dominic G. O’Donovan; Rebecca Buchert; Mona Grimmel; Ana Töpf; Irina T. Zaharieva; Lauren Brady; Ying Hu; Thomas E. Lloyd; Andrea Klein; Maja Steinlin; Alice Kuster; Sandra Mercier; Pascale Marcorelles; Yann Péréon; Emmanuelle Fleurence; Adnan Manzur; Sarah Ennis; Rosanna Upstill-Goddard; Luca Bello; Cinzia Bertolin; Elena Pegoraro; Leonardo Salviati; Courtney E. French; Andriy Shatillo; F. Lucy Raymond; Tobias B. Haack; Susana Quijano-Roy; Johann Böhm; Isabelle Nelson; Tanya Stojkovic; Teresinha Evangelista; Volker Straub; Norma B. Romero; Jocelyn Laporte; Francesco Muntoni; Ichizo Nishino; Mark A. Tarnopolsky; James Shorter; Carsten G. Bönnemann; J. Paul Taylor
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
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