학술논문
'학술논문'
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Academic Journal
Byrne, Barry; Carlier, Pierre G.; Vissing, John; Dimachkie, Mazen M.; Barohn, Richard; Kishnani, Priya S.; Ladha, Shafeeq; Mengel, Eugen; Sacconi, Sabrina; Trivedi, Jaya; Young, Peter; Haack, Kristina An; Armstrong, Nicole; Miossec, Patrick; Thibault, Nathan; Sparks, Susan; Schoser, Benedikt; Diaz-Manera, Jordi
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio; Battistini, Stefania; Ricci, Claudia; Benigni, Michele; Cau, Tea B.; Loi, Daniela; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Barberis, Marco; Restagno, Gabriella; Casale, Federico; Marrali, Giuseppe; Fuda, Giuseppe; Ossola, Irene; Cammarosano, Stefania; Canosa, Antonio; Ilardi, Antonio; Manera, Umberto; Grassano, Maurizio; Tanel, Raffaella; Pisano, Fabrizio; Harms, Matthew B.; Goldstein, David B.; Shneider, Neil A.; Goutman, Stephen; Simmons, Zachary; Miller, Timothy M.; Chandran, Siddharthan; Pal, Suvankar; Manousakis, Georgios; Appel, Stanley H.; Simpson, Ericka; Wang, Leo; Baloh, Robert H.; Gibson, Summer; Bedlack, Richard; Lacomis, David; Sareen, Dhruv; Sherman, Alexander; Bruijn, Lucie; Penny, Michelle; Allen, Andrew S.; Appel, Stanley; Bedlack, Richard S.; Boone, Braden E.; Brown, Robert; Carulli, John P.; Chesi, Alessandra; Chung, Wendy K.; Cirulli, Elizabeth T.; Cooper, Gregory M.; Couthouis, Julien; Day-Williams, Aaron G.; Dion, Patrick A.; Gitler, Aaron D.; Glass, Jonathan D.; Han, Yujun; Harris, Tim; Hayes, Sebastian D.; Jones, Angela L.; Keebler, Jonathan; Krueger, Brian J.; Lasseigne, Brittany N.; Levy, Shawn E.; Lu, Yi-Fan; Maniatis, Tom; McKenna-Yasek, Diane; Myers, Richard M.; Petrovski, Slavé; Pulst, Stefan M.; Raphael, Alya R.; Ravits, John M.; Ren, Zhong; Rouleau, Guy A.; Sapp, Peter C.; Sims, Katherine B.; Staropoli, John F.; Waite, Lindsay L.; Wang, Quanli; Wimbish, Jack R.; Xin, Winnie W.; Phatnani, Hemali; Kwan, Justin; Broach, James R.; Arcila-Londono, Ximena; Lee, Edward B.; Van Deerlin, Vivianna M.; Fraenkel, Ernest; Ostrow, Lyle W.; Baas, Frank; Zaitlen, Noah; Berry, James D.; Malaspina, Andrea; Fratta, Pietro; Cox, Gregory A.; Thompson, Leslie M.; Finkbeiner, Steve; Dardiotis, Efthimios; Hornstein, Eran; MacGowan, Daniel J.; Heiman-Patterson, Terry; Hammell, Molly G.; Patsopoulos, Nikolaos A.; Dubnau, Joshua; Nath, Avindra; Kaye, Julia; Finkbeiner, Steven; Wyman, Stacia; LeNail, Alexander; Lima, Leandro; Rothstein, Jeffrey D.; Svendsen, Clive N.; Van Eyk, Jenny; Maragakis, Nicholas J.; Kolb, Stephen J.; Cudkowicz, Merit; Baxi, Emily; Benatar, Michael; Taylor, J. Paul; Wu, Gang; Rampersaud, Evadnie; Wuu, Joanne; Rademakers, Rosa; Züchner, Stephan; Schule, Rebecca; McCauley, Jacob; Hussain, Sumaira; Cooley, Anne; Wallace, Marielle; Clayman, Christine; Barohn, Richard; Statland, Jeffrey; Ravits, John; Swenson, Andrea; Jackson, Carlayne; Trivedi, Jaya; Khan, Shaida; Katz, Jonathan; Jenkins, Liberty; Burns, Ted; Gwathmey, Kelly; Caress, James; McMillan, Corey; Elman, Lauren; Pioro, Erik; Heckmann, Jeannine; So, Yuen; Walk, David; Maiser, Samuel; Zhang, Jinghui; Silani, Vincenzo; Ticozzi, Nicola; Gellera, Cinzia; Ratti, Antonia; Taroni, Franco; Lauria, Giuseppe; Verde, Federico; Fogh, Isabella; Tiloca, Cinzia; Comi, Giacomo P.; Sorarù, Gianni; Cereda, Cristina; D’Alfonso, Sandra; Corrado, Lucia; De Marchi, Fabiola; Corti, Stefania; Ceroni, Mauro; Mazzini, Letizia; Siciliano, Gabriele; Filosto, Massimiliano; Inghilleri, Maurizio; Peverelli, Silvia; Colombrita, Claudia; Poletti, Barbara; Maderna, Luca; Del Bo, Roberto; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; Pensato, Viviana; Castellotti, Barbara; Camu, William; Mouzat, Kevin; Lumbroso, Serge; Corcia, Philippe; Meininger, Vincent; Besson, Gérard; Lagrange, Emmeline; Clavelou, Pierre; Guy, Nathalie; Couratier, Philippe; Vourch, Patrick; Danel, Véronique; Bernard, Emilien; Lemasson, Gwendal; Al Kheifat, Ahmad; Al-Chalabi, Ammar; Andersen, Peter; Basak, A. Nazli; Blair, Ian P.; Chio, Adriano; Cooper-Knock, Jonathan; de Carvalho, Mamede; Dekker, Annelot; Drory, Vivian; Redondo, Alberto Garcia; Gotkine, Marc; Hardiman, Orla; Hide, Winston; Iacoangeli, Alfredo; Glass, Jonathan; Kenna, Kevin; Kiernan, Matthew; Kooyman, Maarten; Landers, John; McLaughlin, Russell; Middelkoop, Bas; Mill, Jonathan; Neto, Miguel Mitne; Moisse, Mattieu; Pardina, Jesus Mora; Morrison, Karen; Newhouse, Stephen; Pinto, Susana; Pulit, Sara; Robberecht, Wim; Shatunov, Aleksey; Shaw, Pamela; Shaw, Chris; Sproviero, William; Tazelaar, Gijs; van Damme, Philip; van den Berg, Leonard; van der Spek, Rick; van Eijk, Kristel; van Es, Michael; van Rheenen, Wouter; van Vugt, Joke; Veldink, Jan; Weber, Markus; Williams, Kelly L.; Zatz, Mayana; Bauer, Denis C.; Twine, Natalie A.; Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya; Smith, Bradley N.; Topp, Simon D.; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Messina, Sonia; Simone, Isabella L.; Ferrucci, Luigi; Moreno, Cristiane de Araujo Martins; Kamalakaran, Sitharthan; Musunuri, Rajeeva Lochan; Evani, Uday Shankar; Abhyankar, Avinash; Zody, Michael C.; Wyman, Stacia K.; LeNail, Alex; Van Eyk, Jennifer E.; Laaksovirta, Hannu; Myllykangas, Liisa; Jansson, Lilja; Valori, Miko; Ealing, John; Hamdalla, Hisham; Rollinson, Sara; Pickering-Brown, Stuart; Orrell, Richard W.; Sidle, Katie C.; Hardy, John; Singleton, Andrew B.; Johnson, Janel O.; Arepalli, Sampath; Polak, Meraida; Asress, Seneshaw; Al-Sarraj, Safa; King, Andrew; Troakes, Claire; Vance, Caroline; de Belleroche, Jacqueline; ten Asbroek, Anneloor L.M.A.; Muñoz-Blanco, José Luis; Hernandez, Dena G.; Ding, Jinhui; Gibbs, J. Raphael; Scholz, Sonja W.; Floeter, Mary Kay; Campbell, Roy H.; Landi, Francesco; Bowser, Robert; MacGowan, Daniel J.L.; Kirby, Janine; Pioro, Erik P.; Pamphlett, Roger; Broach, James; Gerhard, Glenn; Dunckley, Travis L.; Brady, Christopher B.; Kowall, Neil W.; Troncoso, Juan C.; Le Ber, Isabelle; Heiman-Patterson, Terry D.; Kamel, Freya; Van Den Bosch, Ludo; Strom, Tim M.; Meitinger, Thomas; Van Eijk, Kristel R.; Moisse, Matthieu; McLaughlin, Russell L.; Van Es, Michael A.; Boylan, Kevin B.; Van Blitterswijk, Marka; Morrison, Karen E.; Mora, Jesús S.; Drory, Vivian E.; Shaw, Pamela J.; Turner, Martin R.; Talbot, Kevin; Fifita, Jennifer A.; Nicholson, Garth A.; Esteban-Pérez, Jesús; García-Redondo, Alberto; Rogaeva, Ekaterina; Zinman, Lorne; Cooper-Knock, Johnathan; Brice, Alexis; Goutman, Stephen A.; Feldman, Eva L.; Gibson, Summer B.; Van Damme, Philip; Ludolph, Albert C.; Andersen, Peter M.; Weishaupt, Jochen H.; Trojanowski, John Q.; Brown, Robert H., Jr.; van den Berg, Leonard H.; Veldink, Jan H.; Stone, David J.; Tienari, Pentti; Chiò, Adriano; Shaw, Christopher E.; Traynor, Bryan J.; Landers, John E.
In Neuron 21 March 2018 97(6):1267-1288
Academic Journal
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
Pasnoor, Mamatha; Bril, Vera; Levine, Todd; Trivedi, Jaya; Silvestri, Nicholas J.; Phadnis, Milind; Katzberg, Hans D.; Saperstein, David S.; Wolfe, Gil I.; Herbelin, Laura; Higgs, Kiley; Heim, Andrew J.; Statland, Jeffrey M.; Barohn, Richard J.; Dimachkie, Mazen M.
Academic Journal
Dimachkie, Mazen M.; Barohn, Richard J.; Byrne, Barry; Goker-Alpan, Ozlem; Kishnani, Priya S.; Ladha, Shafeeq; Laforêt, Pascal; Mengel, Karl Eugen; Peña, Loren D.M.; Sacconi, Sabrina; Straub, Volker; Trivedi, Jaya; Van Damme, Philip; van der Ploeg, Ans T.; Vissing, John; Young, Peter; Haack, Kristina An; Foster, Meredith; Gilbert, Jane M.; Miossec, Patrick; Vitse, Olivier; Zhou, Tianyue; Schoser, Benedikt
Neurology. Aug 02, 2022 99(5):e536-e548
Academic Journal
Statland, Jeffrey M; Fontaine, Bertrand; Hanna, Michael G; Johnson, Nicholas E; Kissel, John T; Sansone, Valeria A; Shieh, Perry B; Tawil, Rabi N; Trivedi, Jaya; Cannon, Stephen C; Griggs, Robert C
Muscle & Nerve. 57(4)
Academic Journal
Walker, Michaela; Butterfield, Russell; Day, John; Eichinger, Katy; Elsheikh, Bakri; Friedman, Seth; Genge, Angela; Higgs, Kiley; Johnson, Nicholas; Jones, Peter; Leung, Doris; Lewis, Leann; Lochmuller, Hanns; O'Ferrall, Erin; Martens, William; Shaw, Dennis; Shieh, Perry; Subramony, S.; Trivedi, Jaya; Wang, Leo; Wicklund, Matthew; Tawil, Alrabi; Statland, Jeffrey
Academic Journal
Sansone, Valeria A; Burge, James; McDermott, Michael P; Smith, Patty C; Herr, Barbara; Tawil, Rabi; Pandya, Shree; Kissel, John; Ciafaloni, Emma; Shieh, Perry; Ralph, Jeffrey W; Amato, Antony; Cannon, Steve C; Trivedi, Jaya; Barohn, Richard; Crum, Brian; Mitsumoto, Hiroshi; Pestronk, Alan; Meola, Giovanni; Conwit, Robin; Hanna, Michael G; Griggs, Robert C
Neurology. 86(15)
Academic Journal
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