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Academic Journal
Rice, GI; Kitabayashi, N; Barth, M; Briggs, TA; Burton, ACE; Carpanelli, ML; Cerisola, AM; Colson, C; Dale, RC; Danti, FR; Darin, N; De Azua, B; De Giorgis, V; De Goede, CGL; Desguerre, I; De Laet, C; Eslahi, A; Fahey, MC; Fallon, P; Fay, A; Fazzi, E; Gorman, MP; Gowrinathan, NR; Hully, M; Kurian, MA; Leboucq, N; Lin, JPSM; Lines, MA; Mar, SS; Maroofian, R; Marti-Sanchez, L; McCullagh, G; Mojarrad, M; Narayanan, V; Orcesi, S; Ortigoza-Escobar, JD; Perez-Duenas, B; Petit, F; Ramsey, KM; Rasmussen, M; Rivier, F; Rodriguez-Pombo, P; Roubertie, A; Stodberg, TI; Toosi, MB; Toutain, A; Uettwiller, F; Ulrick, N; Vanderver, A; Waldman, A; Livingston, JH; Crow, YJ
Neuropediatrics. 48(3):166-184
Academic Journal
Crow, YJ; Chase, DS; Schmidt, JL; Szynkiewicz, M; Forte, GMA; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; de Villemeur, TB; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Corcoles, CS; Cordeiro, NJV; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De Goede, CGEL; De Laet, C; De Waele, LMH; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, L; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, MJ; Lin, JPSM; Linnankivi, T; Mackay, MT; Marom, DR; Lourenco, CM; McKee, SA; Moroni, I; Morton, JEV; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Perez-Duenas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Regal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stodberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; Naude, JT; Teik, KW; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van Coster, RN; van der Knaap, MS; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI
American journal of medical genetics. Part A. 167(167A):296-312
Academic Journal
Wang, CH; Bonnemann, CG; Rutkowski, A; Sejersen, T; Bellini, J; Battista, V; Florence, JM; Schara, U; Schuler, PM; Wahbi, K; Aloysius, A; Bash, RO; Beroud, C; Bertini, E; Bushby, K; Cohn, RD; Connolly, AM; Deconinck, N; Desguerre, I; Eagle, M; Estournet-Mathiaud, B; Ferreiro, A; Fujak, A; Goemans, N; Iannaccone, ST; Jouinot, P; Main, M; Melacini, P; Mueller-Felber, W; Muntoni, F; Nelson, LL; Rahbek, J; Quijano-Roy, S; Sewry, C; Storhaug, K; Simonds, A; Tseng, B; Vajsar, J; Vianello, A; Zeller, R
Journal of child neurology. 25(12):1559-1581
Academic Journal
Academic Journal
Sole, G.; Salort-Campana, E.; Pereon, Y.; Stojkovic, T.; Wahbi, K.; Cintas, P.; Adams, D.; Laforet, P.; Tiffreau, V; Desguerre, I; Pisella, L., I; Molon, A.; Attarian, S.; Antoine, J. C.; Barriere, A.; Bellance, R.; Bouhour, F.; Boyer, F.; Bulteel, C.; Burucoa, B.; Cances, C.; Carre, V; Chabrol, B.; Chine, A.; Choumert, A.; Deberge, L.; Delleci, C.; Duval, F.; Echaniz-Laguna, A.; Espil-Taris, C.; Finet-Monnier, A.; Fontaine, B.; Gainnier, M.; Gellez, M-C; Laugel, V; Lofaso, F.; Michel, F.; de Bovis, V. Milhe; Morard, M. D.; Paternostre, B.; Porte, M.; Pouget, J.; Pradeau, C.; Prigent, H.; Nadaj-Paklesa, A.; Richez, C.; Ropars, J.; Schaeverbeke, T.; Segovia-Kueny, S.; Tard, C.; Thoumie, P.; Vuillerot, C.; Zagnoli, F.; FILNEMUS COVID-19 Study Grp
Academic Journal
Mercuri, Eugenio; Muntoni, Francesco; Osorio, Andres Nascimento; Tulinius, Mar; Buccella, Filippo; Morgenroth, Lauren P.; Gordish-Dressman, Heather; Jiang, Joel; Trifillis, Panayiota; Zhu, Lin; Kristensen, Allan; Santos, Claudio L.; Henricson, Erik K.; McDonald, Craig M.; Desguerre, Isabelle; Bernert, G.; Gosk-Tomek, M.; Ille, A.; Kellersmann, A.; Weiss, S.; Pilshofer, V; Balintova, Z.; Danhofer, P.; Fabulova, P.; Jurikova, L.; Fuchsova, P.; Haberlova, J.; Laffargue, F.; Sarret, C.; Pontier, B.; Bellance, R.; Sarrazin, E.; Sabouraud, P.; Magot, A.; Mercier, S.; Pereon, Y.; Cuisset, J. M.; Coopman-Degryse, S.; Enaud, E.; Jacquemont, M. L.; Perville, A.; Renouil, M.; Trommsdorff, V; Verheulpen, D.; Fontaine-Carbonnel, S.; Vuillerot, C.; Peudenier, S.; Ropars, J.; Audic, F.; Chabrol, B.; Chabrier, S.; Gousse, G.; Lagrue, E.; Aragon, K.; Barnerias, C.; Brande, L., V; De Lucia, S.; Desguerre, I; Gidaro, T.; Seferian, A.; Servais, L.; Laugel, V; Espil-Taris, C.; Mecili, H.; Raffo, E.; Ragot-Mandry, S.; Borrell, S.; Kirschner, J.; Gangfuss, A.; Henrich, M.; Koelbel, H.; Schara, U.; Spoenemann, N.; Temme, E.; Seeger, J.; Hirsch, A.; Denecke, J.; Johannsen, J.; Neu, A.; Osinski, D.; Ruegner, S.; Schuessler, S.; Trollmann, R.; Kaindl, A.; Schneider, J. B.; Stoltenburg, C.; Weiss, C.; Schreiber, G.; Hahn, A.; Grzybowski (Giessen), M.; Pavlidou, E.; Pavlou, E.; Dobner, S.; Liptai, Z.; Dor, T.; Brogna, C.; Catteruccia, M.; D'Amico, A.; Mercuri, E.; Pane, M.; Bello, L.; Pegoraro, E.; Semplicini, C.; Albamonte, E.; Baranello, G.; Comi, G.; Govoni, A.; Lerario, A.; Magri, F.; Masson, R.; Mauri, E.; Sansone, V; Brusa, C.; Mongini, T.; Ricci, F.; Vacchetti, M.; Bruno, C.; Paniucci, C.; Pedemonte, M.; Giannotta, M.; Pini, A.; Messina, S.; Sframeli, M.; Vita, G.; Ruggiero, L.; Santoro, L.; Craiu, D.; Motoescu, C.; Sandu, C.; Teleanu, R.; Vasile, D.; Tulinius, M.; Hughes, I; Childs, A. M.; Alhaswani, Z.; Roper, H.; Parasuraman, D.; DeGoede, C.; Gowda, V; Manzur, A.; Munot, P.; Sarkokzy, A.; Charlesworth, C.; Lemon, J.; Turner, L.; Spinty, S.; Dubrovsky, A.; Kornberg, A.; Ryan, M.; Webster, R.; Biggar, W. D.; McAdam, L. C.; Mah, J. K.; Kolski, H.; Vishwanathan, V.; Chidambaranathan, S.; Nevo, Y.; Gorni, K.; Carlo, J.; McDonald, C. M.; Henricson, E. K.; Abresch, R. T.; Joyce, N. C.; Cnaan, A.; Morgenroth, L. P.; Leshner, R.; Tesi-Rocha, C.; Thangarajh, M.; Duong, T.; Clemens, P. R.; Abdel-Hamid, H.; Connolly, A. M.; Pestronk, A.; Teasley, J.; Harper, A.; Bertorini, T. E.; Kuntz, N.; Driscoll, S.; Day, J. W.; Karachunski, P.; Lotze, T.; STRIDE; CINRG Duchenne Nat Hist Inv
Academic Journal
Bricout, M; Grévent, D; Lebre, A S; Rio, M; Desguerre, I; De Lonlay, P; Valayannopoulos, V; Brunelle, F; Rötig, A; Munnich, A; Boddaert, N
Journal of Medical Genetics. Jul 01, 2014 51(7):429-435
Academic Journal
Lebre, A S; Rio, M; Faivre dʼArcier, L; Vernerey, D; Landrieu, P; Slama, A; Jardel, C; Laforêt, P; Rodriguez, D; Dorison, N; Galanaud, D; Chabrol, B; Paquis-Flucklinger, V; Grévent, D; Edvardson, S; Steffann, J; Funalot, B; Villeneuve, N; Valayannopoulos, V; de Lonlay, P; Desguerre, I; Brunelle, F; Bonnefont, J P; Rötig, A; Munnich, A; Boddaert, N
Journal of Medical Genetics. Jan 01, 2011 48(1):16-23
Academic Journal
Gregory, A; Westaway, S K; Holm, I E; Kotzbauer, P T; Hogarth, P; Sonek, S; Coryell, J C; Nguyen, T M; Nardocci, N; Zorzi, G; Rodriguez, D; Desguerre, I; Bertini, E; Simonati, A; Levinson, B; Dias, C; Barbot, C; Carrilho, I; Santos, M; Malik, I
Neurology; 10/28/2008, Vol. 71 Issue 18, p1402-1409, 8p
Academic Journal
Ali, M; Highet, L J; Lacombe, D; Goizet, C; King, M D; Tacke, U; van der Knaap, M S; Lagae, L; Rittey, C; Brunner, H G; van Bokhoven, H; Hamel, B; Oade, Y A; Sanchis, A; Desguerre, I; Cau, D; Mathieu, N; Moutard, M L; Lebon, P; Kumar, D; Jackson, A P; Crow, Y J
JOURNAL OF MEDICAL GENETICS. May 01, 2006 43(5):444-450
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