학술논문
'학술논문'
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Academic Journal
Vita, Giuseppe; Rizzo, Vincenzo; Russo, Massimo; Mazzeo, Anna; Gentile, Luca; Berk, John L; Brueckner, Caitlin; Lazzari, Victoria; Wiesman, Janice; DeLong, Douglas; Victory, Jennifer; Dalton, James; May, John; Gilmore, Catherine; Attarian, Shahram; Diallo, Saran; Delmont, Emilien; Pouget, Jean; Verschueren, Annie; Grapperon, Aude-Marie; Campana-Salort, Emmanuelle; Conceição, Isabel M; Lopes, Ana; Lamas, Filipa; Neves, Carlos; Castro, Jose; Pereira, Pedro; Castro, Isabel; Franco, Ana; Santos, Miguel Oliveira; de Azevedo Coutinho, Conceição; Falcao de Campos, Catarina; Coelho, Teresa; Hipólito Reis, Antonio; Correia, Nuno; Perez, Javier M; Martins da Silva, Ana; Alves, Cristina; Cardoso, Marcio; Valdrez, Katia; Monte, Julia R; Pessoa, Bernardete; Guimaraes, Nadia; Freitas, Monica; Ramalho, Joana; Ferreira, Natalia; Kuzume, Daisuke; Tard, Celine; Waucquier, Nawal; Rougeaux, Isabelle; Brice, Sylvie; Kasprzyk, Emmanuelle; Elrezzi, Elise; Meguig, Sayah; Hachulla, Eric; Gauvain, Clement; Migaud-Chervy, Maria-Claire; Deplanque, Dominique; Jozefowicz, Elsa; Lebellec, Loic; Adams, David; Balaya-Gouraya, Line; Jehan Lacour, Nathalie; Bournane, Halima; Martin, Nathalie; Elabed, Mongia; Sacko, Niamey; Boubrit, Yasmine; Gaouar, Amina; Rakotondratafika, Fetra; Théaudin-Saliou, Marie; Cauquil-Michon, Cécile; Labeyrie, Celine; Not, Adeline; Al-Salameh, Abdallah; Lecoq, Anne-Lise; Stephant, Maeva; Echaniz-Laguna, Andoni; Becquemont, Laurent; Beaudonnet, Guillemette; Algalarrondo, Vincent; Eliahou, Ludivine; Slama, Michel S; Rousseau, Antoine; Signate, Aissatou; Berthelot, Emeline; Inamo, Jocelyn; Planté-Bordeneuve, Violaine; Vervoitte, Laetitia; Focseneanu, Cecile; Gendre, Thierry; Arrouasse, Raphaele; Ayache, Samar S.; Ernande, Laura; Le Corvoisier, Philippe; Salhi, Hayet; Choumert, Ariane; Ehinger, Vincent; Ruiz, Julie; Charlin, Cyril; Megelin, Thomas; Brannagan III, Thomas H; Fayerman, Raisy; Kim, Arreum; Paras, Allan; Gonzalez, Leidy J; Tsang, Steven; Wajnsztajn, Fernanda; Shije, Jeffrey; Ulane, Christina; Kleyman, Inna; Weimer, Louis; Cioroiu, Comana; Lambrianides, Sakis; Abu-Manneh, Rana; Zamba-Papanicolaou, Eleni; Agathangelou, Petros; Leonidou, Eleni; Tada, Satoshi; Fujita, Akemi; Nagai, Masahiro; Ando, Rina; Hosokawa, Yuko; Yamanishi, Yuki; Overcash, J. Scott; Giardino, Elena; Boyer, Leslie; Dang, Lien; Le, An; Nguyen, Tyler; Giang, Lien; Sellers, Peter; Tran, Leyla; Truong, Nghi; Vinas, Maita; Hrkman, Nicole; Miller, Sarah; Nguyen, David; Smith, Ashley; Pu, Helen; Li, Steve; Vuong, Thao; Dioso, Holly; Green, Sinikka; Lee, Kia; Chu, Hanh; Waters, Michael; Coskun, Derya J; Zepeda, Karla A; O'Riordan, William; Obici, Laura; Cortese, Andrea; Lozza, Alessandro; Merlini, Giampaolo; Rosti, Vittorio; Sabatelli, Mario; Bisogni, Giulia; Bernardo, Daniela; Luigetti, Marco; Di Paolantonio, Andrea; Guglielmino, Valeria; Romano, Angela; Nienhuis, Hans; Bulthuis-Kuiper, Janita; Kristen, Arnt V; Gerk, Olga; Ulbricht, Hannah; Taylor, Lenka; Meyle, Eva; Kleinschmidt, Natalia; Meyrath, David; Noe-Schwenn, Simone; Meng, Ulrike; Bauer, Ralf; aus dem Siepen, Fabian; Hein, Selina; Takahashi, Tetsuya; Oshita, Tomohiko; Koujin, Yoko; Neshige, Shuichiro; Nezu, Tomohisa; Segawa, Akiko; Ueno, Hiroki; Morino, Hiroyuki; Campistol, Josep M; Rodas Marin, Lida Maria; Blasco Pelicano, Josep Miquel; Dávila, Lucía Galán; Palacios, Marta; Pytel Cordoba, Vanesa; Guerrero Sola, Antonio; Horga, Alejandro; García Feijoo, Julián; Perez de Isla, Leopoldo; Marques Júnior, Wilson; Moscardini, Mariana; Litcanov, Debora Cristina; Viera Lima, Ana Flavia; Rodrigues, Leonardo; Marques Coutinho, Barbara; Moreira, Carolina Lavigne; Daccach Marques, Vanessa; Munoz Beamud, Francisco; Gragera Martínez, Álvaro; Borrachero, Cristina; Losada López, Inés Asunción; Cisneros Barroso, Eugenia; Rodríguez Rodríguez, Adrián; Sanz, Monica; Rigo Oliver, Elena; González Moreno, Juan; Gamez Martinez, Jose M; Descals, Cristina; Uson, Mercedes; Jose Vega, Francisco; Figuerola, Antoni; Montala, Carles; Waddington-Cruz, Márcia; Dias da Silva, Moises; Gervais de Santa Rosa, Renata; Pinto, Luiz Felipe; Pinto, Marcus Vinicius; Cardoso Berensztejn, Amanda; Barroso, Fabio; Lautre, Andrea; Orellana, Lucas G; González-Duarte Briseño, Maria Alejandra; Cárdenas-Soto, Karla; Jiménez López, Brenda Poled; Pérez-Castañeda, Sandra Lorena; Cantú Brito, Carlos Gerardo; Rivera de la Parra, David; Hernandez Reyes, Jose Pablo; del Mar Saniger Alba, Maria; Criollo Mora, Elia; Parman, Yesim; Rezzan, Kus Jülide; Sahin, Erdi; Serbest, Nail G; Durmus, Hacer; Cakar, Arman; Tugal Tutkun, Nuriye Ilknur; Karamursel, Sacit; Elitok, Ali; Sirin Inan, Nermin G; Altinkurt, Emre; Polydefkis, Michael; Ye, Jing; Allen, Adriane C; Chaudhry, Vinay; Jarrett, Raquel; Bressler, Neil; Burks, Kathleen L; Liu, Qingfeng; Khoshnoodi, Mohammad; Judge, Daniel P; Vista, Geno; Shah, Syed Mahmood; Hamaguchi, Hirotoshi; Oda, Junko; Fukase, Emi; Taniguchi, Ikuko; Oda, Tetsuya; Endo, Hironobu; Shimomura, Masahiro; Katanazaka, Kimitaka; Koto, Shusuke; Nakano, Takahiro; Scheid, Christof; Zueiter, Andreas; Pester, Lars; Walter, Doreen; Özdemir, Betül; Frenzel, Lukas F; Holtick, Udo; Oh, Jeeyoung; Kim, Hee Jin; Shin, Hyun Jin; Choi, Kyomin; Yamashita, Taro; Ueda, Mitsuharu; Masuda, Teruaki; Misumi, Yohei; Ueda, Akihiko; Nakahara, Keiichi; Yorita, Akiko; Tsuruhisa, Seiko; Taniwaki, Takayuki; Harada, Masaya; Moritaka, Taiga; Sakurada, Naonori; Mauricio, Elizabeth A; Baskin, Amber; Dimberg, Elliot; Dispenzieri, Angela; Fonder, Amie; Hobbs, Miriam; Russell, Stephen J; Dyck, Peter; Gonsalves, Wilson; Leung, Nelson; Witzig, Thomas E; Zeldenrust, Steven R; Hwa, Lisa; Kapoor, Prashant; Kumar, Shaji K; Lin, Yi; Lust, John A; Rajkumar, Vincent S; Dingli, David; Gertz, Morie A; Go, Ronald; Hayman, Suzanne R; Dalia, Samir; Carrillo, Esmeralda; Gorevic, Peter; Mason, Garnette; Chao, Chi-Chao; Lee, Ming-Jen; Su, Jen-Jen; Hsieh, Sung-Tsang; Tsai, Li-Kai; Yeh, Shin-Joe; Yang, Chih-Chao; Ajroud-Driss, Senda Ajroud-Driss; Casey, Patricia; Joslin, Benjamin C; Freimer, Miriam; Sankey, Alison; Kenepp, Amanda; Heintzman, Sarah; LoRusso, Samantha; Hokezu, Youichi; Kim, Byoung-Joon; Kim, JuHyeon; Lee, Ga Yeon; Cho, Eun Bin; Jeon, Eun-Seok; Min, Ju-Hong; Seok, Jin Myoung; Lee, Hye Lim; Park, Jae Hong; Sekijima, Yoshiki; Miyazawa, Chinatsu; Kato, Nagaaki; Kishida, Dai; Hineno, Akiyo; Kodaira, Minori; Yoshinaga, Tsuneaki; Miyahara, Teruyoshi; Imai, Akira; Matsumoto, Kazuhiko; Lin, Kon-Ping; Lee, Yi-Chung; Wixner, Jonas; Falk, Malin; Pilebro, Bjorn; Suhr, Ole; Lindqvist, Per; Soderberg, Karin; Pedrosa-Domellöf, Fatima; Anan, Intissar; Nordh, Erik; Tournev, Ivaylo; Zhelyazkova-Glaveeva, Sashka; Cherneva, Zheyna; Sarafov, Staiko; Chamova, Teodora; Cherninkova-Gopina, Sylvia; Schmidt, Hartmut H; Friebel, Frauke; Zibert, Andree; Mihailovic, Natasa; Schubert, Friederike; Vorona, Elena; Lahme, Larissa; Huesing-Kabar, Anna; Schilling, Matthias; Kabar, Iyad; Gillmore, Julian D; Martinez-Naharro, Ana; Chacko, Liza; Cohen, Oliver; Law, Steven; Rezk, Tamer; Lachmann, Helen J; Quan, Dianna; Blume, Brianna; Dixon, Stacy; Low, Soon Chai; Chan, Soo Looi; Lim, He Eng Li; Goh, Khean Jin; Mezei, Michelle M; Kraus, Deborah; Jack, Kristin; Wade, N. Kevin; Lopate, Glenn; Zwijack, Brittany; Florence, Julaine; Sommerville, R. Brian; Stewart, Graeme; Ryder, Julie; Mekhael, Linda; Taylor, Mark; Suan, Daniel; Wells, Karen; Stone, Paula; Itoya, Amenze; Owusu-Sekyere, Mercy; Thai, Desmond; Chahine, Ilonah; Pedrosa, Salve; Do, Thi Hoa (Therese); González-Duarte, Alejandra; Kyriakides, Theodoros; Ajroud-Driss, Senda; Mauricio, Elizabeth; Brannagan, Thomas H, III; Aldinc, Emre; Wang, Jing Jing; White, Matthew T; Vest, John; Berber, Erhan; Sweetser, Marianne T
In The Lancet Neurology January 2021 20(1):49-59
Academic Journal
Mercuri, Eugenio; McDonald, Craig; Mayhew, Anna; Florence, Julaine; Mazzone, Elena; Bianco, Flaviana; Decostre, Valerie; Servais, Laurent; Ricotti, Valeria; Goemans, Nathalie; Vroom, Elizabeth
In Neuromuscular Disorders November 2012 22(11):1025-1028
Academic Journal
Wencel, Marie; Shaibani, Aziz; Goyal, Namita A; Dimachkie, Mazen M; Trivedi, Jaya; Johnson, Nicholas E; Gutmann, Laurie; Wicklund, Matthew P; Bandyopadhay, Sankar; Genge, Angela L; Freimer, Miriam L; Goyal, Neelam; Pestronk, Alan; Florence, Julaine; Karam, Chafic; Ralph, Jeffrey W; Rasheed, Zinah; Hays, Melissa; Hopkins, Steve; Mozaffar, Tahseen
Neurology. Genetics. 7(6)
Academic Journal
Mazzone, Elena; Bianco, Flaviana; Martinelli, Diego; Glanzman, Allan M.; Messina, Sonia; Sanctis, Roberto De; Main, Marion; Eagle, Michelle; Florence, Julaine; Krosschell, Kristin; Vasco, Gessica; Pelliccioni, Marco; Lombardo, Marilena; Pane, Marika; Finkel, Richard; Muntoni, Francesco; Bertini, Enrico; Mercuri, Eugenio
In Neuromuscular Disorders 2011 21(6):406-412
Academic Journal
Clemens, Paula; Niizawa, Gabriela; Feng, Jia; Florence, Julaine; DʼAlessandro, Andrea; Morgenroth, Lauren; Gorni, Ksenija; Guglieri, Michela; Connolly, Anne; Wicklund, Matthew; Bertorini, Tulio; Mah, Jean; Thangarajh, Mathula; Smith, Edward; Kuntz, Nancy; Henricson, Erik; Upadhyayula, Saila; Byrne, Barry; Manousakis, Georgios; Harper, Amy; Bravver, Elena; Iannaccone, Susan; Spurney, Christopher; Cnaan, Avital; Gordish-Dressman, Heather; McDonald, Craig
Muscle and Nerve. 62(3)
Academic Journal
Green, Joshua D; Barohn, Richard J; Bartoccion, Emanuela; Benatar, Michael; Blackmore, Derrick; Chaudhry, Vinay; Chopra, Manisha; Corse, Andrea; Dimachkie, Mazen M; Evoli, Amelia; Florence, Julaine; Freimer, Miriam; Howard, James F; Jiwa, Theresa; Kaminski, Henry J; Kissel, John T; Koopman, Wilma J; Lipscomb, Bernadette; Maestri, Michelanglo; Marino, Mariapaola; Massey, Janice M; McVey, April; Mezei, Michelle M; Muppidi, Srikanth; Nicolle, Michael W; Oger, Joel; Pascuzzi, Robert M; Pasnoor, Mamatha; Pestronk, Alan; Provenzano, Carlo; Ricciardi, Roberta; Richman, David P; Rowin, Julie; Sanders, Donald B; Siddiqi, Zaeem; Soloway, Aimee; Wolfe, Gil I; Wulf, Charlie; Drachman, Daniel B; Traynor, Bryan J
BMJ Open. 10(9)
Academic Journal
Argov, Zohar; Bronstein, Faye; Esposito, Alicia; Feinsod-Meiri, Yael; Florence, Julaine; Fowler, Eileen; Greenberg, Marcia; Malkus, Elizabeth; Rebibo, Odelia; Siener, Catherine; Caraco, Yoseph; Kolodny, Edwin; Lau, Heather; Pestronk, Alan; Shieh, Perry; Skrinar, Alison; Mayhew, Jill
Journal of Clinical Neuromuscular Disease. 19(1)
Academic Journal
Duong, Tina; Krosschell, Kristin J.; James, Meredith K.; Nelson, Leslie; Alfano, Lindsay N.; Eichinger, Katy; Mazzone, Elena; Rose, Kristy; Lowes, Linda P.; Mayhew, Anna; Florence, Julaine; King, Wendy; Senesac, Claudia R.; Eagle, Michelle
Frontiers in Genetics; 11/10/2021, Vol. 12, p1-10, 10p
Academic Journal
Findlay, Andrew; Wein, Nicolas; Kaminoh, Yuuki; Taylor, Laura; Dunn, Diane; Mendell, Jerry; King, Wendy; Pestronk, Alan; Florence, Julaine; Mathews, Katherine; Finkel, Richard; Swoboda, Kathryn; Howard, Michael; Day, John; Nicolas, Aurélie; Le Rumeur, Elisabeth; Weiss, Robert; Flanigan, Kevin; McDonald, Craig
Annals of Neurology. 77(4)
Academic Journal
Connolly, Anne; Malkus, Elizabeth; Mendell, Jerry; Flanigan, Kevin; Miller, J; Schierbecker, Jeanine; Siener, Catherine; Golumbek, Paul; Zaidman, Craig; Johnson, Linda; Nicorici, Alina; Karachunski, Peter; Day, John; Kelecic, Jason; Lowes, Linda; Alfano, Lindsay; Darras, Basil; Kang, Peter; Quigley, Janet; Pasternak, Amy; Florence, Julaine; McDonald, Craig
Muscle and Nerve. 51(4)
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