학술논문
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'학술논문'
에서 검색결과 405건 | 목록
1~20
Academic Journal
Bustamante, M. Leonor; Miranda, Marcelo; Pellerin, David; Barreto, Mariana; Silva, Claudia; Miranda, Ana C.; Pizarro-Galleguillos, Benjamín; Azaldegui, Octavio; Besa, Valentina; Canals, Francisca; Contreras, María Eugenia; Dicaire, Marie-Josée; Dominik, Natalia; Iruzubieta, Pablo; Danzi, Matt C.; Zuchner, Stephan; Houlden, Henry; Brais, Bernard; Fernández, Ramiro; Fuentes Manríquez, José; Gajardo, Javiera; León, Javiera; Melo, Camila; Muñoz-Chesta, Daniela; Pizarro, Ximena; Rodríguez, Pablo; Salles, Philippe; Sepúlveda, Camilo; Tirapegui, José Miguel; Valenzuela, Daniel; Vial, Felipe; Orellana Pineda, Patricia; Garrido, Cristian; Miranda, Gonzalo
The Cerebellum. 25(1)
Academic Journal
Pellerin, David; Iruzubieta, Pablo; Xu, Isaac R. L.; Danzi, Matt C.; Cortese, Andrea; Synofzik, Matthis; Houlden, Henry; Zuchner, Stephan; Brais, Bernard
Current Neurology and Neuroscience Reports. 25(1)
Academic Journal
Iruzubieta, Pablo; Pellerin, David; Ashton, Catherine; Villa, Felipe; Renaud, Mathilde; Dicaire, Marie-Josée; Danzi, Matt C.; Aldecoa, Mayra; Mathieu, Jean; Massie, Rami; Chalk, Colin H.; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Brisson, Jean-Denis; Boycott, Kym M.; Houlden, Henry; Synofzik, Matthis; La Piana, Roberta; Zuchner, Stephan; Duquette, Antoine; Brais, Bernard
J Neurol
Academic Journal
Satolli, Sara; Rossi, Salvatore; Vegezzi, Elisa; Pellerin, David; Manca, Maria Laura; Barghigiani, Melissa; Battisti, Carla; Bilancieri, Giusi; Bruno, Giorgia; Capacci, Elena; Casali, Carlo; Ceravolo, Roberto; Cocozza, Sirio; Cotti Piccinelli, Stefano; Criscuolo, Chiara; Danzi, Matt C.; De Micco, Rosa; De Michele, Giuseppe; Dicaire, Marie-Josée; Falcone, Grazia Maria Igea; Fancellu, Roberto; Ferchichi, Yasmine; Ferrari, Camilla; Filla, Alessandro; Fini, Nicola; Govoni, Alessandra; Lo Vecchio, Filomena; Malandrini, Alessandro; Mignarri, Andrea; Musumeci, Olimpia; Nesti, Claudia; Pappatà, Sabina; Pellecchia, Maria Teresa; Perna, Alessia; Petrucci, Antonio; Pomponi, Maria Grazia; Ravenni, Roberta; Ricca, Ivana; Rufa, Alessandra; Tabolacci, Elisabetta; Tessa, Alessandra; Tessitore, Alessandro; Zuchner, Stephan; Silvestri, Gabriella; Cortese, Andrea; Brais, Bernard; Santorelli, Filippo M.
Journal of Neurology. 271:5478-5488
Academic Journal
Vegezzi, Elisa; Ishiura, Hiroyuki; Bragg, D Cristopher; Pellerin, David; Magrinelli, Francesca; Currò, Riccardo; Facchini, Stefano; Tucci, Arianna; Hardy, John; Sharma, Nutan; Danzi, Matt C; Zuchner, Stephan; Brais, Bernard; Reilly, Mary M; Tsuji, Shoji; Houlden, Henry; Cortese, Andrea
The Lancet Neurology. 23:725-739
Academic Journal
Alexanne Cuillerier; Giulia F. Del Gobbo; Layla Mackay; Erika Wall; Madeline Couse; Laura M. McDonell; Mireille Cloutier; Matt C. Danzi; Jodi Warman‐Chardon; Pierre R. Bourque; Oksana Suchowersky; Alan Mears; Luke Seldenthuis; Wendy Mears; Laura Larrigan; Alexandre White‐Brown; Gerald Pfeffer; Dennis E. Bulman; David Dyment; Care4Rare Canada Consortium; Kym M. Boycott
Annals of Clinical and Translational Neurology, Vol 12, Iss 6, Pp 1118-1125 (2025)
Academic Journal
Hocquel, Armand; Pellerin, David; Méreaux, Jean loup; Huin, Vincent; Hadjivassiliou, Marios; Clément, Guillemette; Villa, Felipe; Puisieux, Salomé; Frismand, Solène; Wandzel, Marion; Roth, Virginie; Wissocq, Anna; Wirth, Thomas; Danzi, Matt C.; Quadrio, Isabelle; Zuchner, Stephan; Lambert, Laetitia; Mochel, Fanny; Synofzik, Matthis; Anheim, Mathieu; Houlden, Henry; Brice, Alexis; Pourié, Carine; Brais, Bernard; Bonnet, Céline; Durr, Alexandra; Renaud, Mathilde
Journal of Neurology. 272(8)
Academic Journal
Isaac R. L. Xu; Matt C. Danzi; Ariel Ruiz; Jacquelyn Raposo; Yeisha Arcia De Jesus; Mary M. Reilly; Andrea Cortese; Michael E. Shy; Steven S. Scherer; David N. Herrmann; Vera Fridman; Jonathan Baets; Mario Saporta; Reza Seyedsadjadi; Tanya Stojkovic; Kristl G. Claeys; Pooja Patel; Shawna Feely; Adriana P. Rebelo; Maike F. Dohrn; Stephan Züchner
Journal of the peripheral nervous system
Academic Journal
Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H.; La Spada, Albert R.; Huang, Alden; Paul, Alex; Miller, Alexander; Al-Beshri, Ali; Ward, Alistair; Bale, Allen; McConkie-Rosell, Allyn; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Pusey Swerdzewski, Barbara N.; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A.; Russell, Bianca E.; Wilk, Brandon M.; Mitchell, Breanna; Lanpher, Brendan C.; Lee, Brendan H.; Fogel, Brent L.; Bordini, Brett; Graham, Brett H.; Corner, Brian; Tucker, Brianna; Korf, Bruce; MacRae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Oladele, Carol; Hendry, Caroline; Smith, Carson A.; Esteves, Cecilia; Xiao, Changrui; Reuter, Chloe M.; Eng, Christine M.; Chan, Chun-Hung; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Rader, Daniel J.; Wegner, Daniel; Miller, Danny; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; Bustos velasq, Francisco; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K.; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A.; Burke, Elizabeth A.; Blue, Elizabeth; Chao, Elizabeth C.; Fieg, Elizabeth L.; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Allenspach, Eric; Klee, Eric; Vilain, Eric; Conboy, Erin; Baldwin, Erin E.; McRoy, Erin; Dell'Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Pinto e Vairo, Filippo; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M.; Marth, Gabor; Jarvik, Gail P.; Clark, Gary D.; Carvalho, George; Berry, Gerard T.; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K.; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J.; Zhang, Hui; Glass, Ian; Lanza, Ian R.; Holm, Ingrid A.; Kohane, Isaac S.; Ward, Isum; Chinn, Ivan; Pallais, J. Carl; Sampson, Jacinda B.; Orengo, James P.; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N.; Posey, Jennifer E.; Morgan, Jennifer; Schymick, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Stoler, Joan M.; Gonzalez, Joanna M.; Phillips, John A., III; Carey, John; Gorzynski, John E.; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D.; Martínez-Agosto, Julian A.; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Callaway, Kaitlin; Leppig, Kathleen A.; Sullivan, Kathleen; Sisco, Kathy; Singh, Kathyrn; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Latchman, Kumarie; Rodan, Lance H.; Keehan, Laura; Pace, Laura; Cobban, Laurel A.; Blieden, Lauren; Briere, Lauren C.; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F.; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Rives, Lynette; Wolfe, Lynne A.; Steenari, Maija-Rikka; Butte, Manish J.; Delgado, Margaret; Romero, María José Ortuño; Acosta, Maria T.; Morimoto, Marie; Nakano-Okuno, Mariko; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Velinder, Matt; Coggins, Matthew; Might, Matthew; Wheeler, Matthew T.; Malicdan, MayChristine V.; Bell, Megan; Halley, Meghan C.; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F.; Muriello, Michael; Zimmermann, Michael; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Weisz Hubshman, Monika; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Parker, Neil H.; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M.; Dargie, Nitsuh K.; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C.; Moretti, Paolo; Ward, Patricia A.; Dickson, Patricia; Berger, Paul; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Bayrak-Toydemir, Pinar; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Li, Rachel; Mahoney, Rachel; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Maas, Richard L.; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I.; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Lalani, Seema R.; Neumann, Serena; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R.; Kobren, Shilpa N.; Yamamoto, Shinya; Mane, Shrikant; Marwaha, Shruti; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Montgomery, Stephen B.; Pak, Stephen; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D.; Mamidi, Tarun KK.; Beagle, Taylor; Maurer, Taylor; Serrano, Teodoro Jerves; Coakley, Terra R.; Cassini, Thomas; Nicholas, Thomas J.; Schedl, Timothy; Vogel, Tiphanie P.; Jobanputra, Vaidehi; Maduro, Valerie V.; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A.; Byrd, William E.; Craigen, William J.; Halstead, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Fazal, Sarah ; Dashnow, Harriet ; Dohrn, Maike F. ; Raposo, Jacquelyn ; Hiatt, Laurel ; Danzi, Matt C. ; Xu, Isaac R.L. ; Usdin, Karen ; Hayward, Bruce ; Kobren, Shilpa Nadimpalli ; Quinlan, Aaron R.
In Genetics in Medicine August 2025 27(8)
Academic Journal
Genís, David; Alemany, Berta; Pellerin, David; Brais, Bernard; Dicaire, Marie-Josée; Volpini, Víctor; Campos, Berta; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; San Nicolás, Héctor; Buxó, Maria; Martínez Sancho, Joan; Obon, Maria; Roig, Carles; Rodriguez-Revenga, Laia; Alvarez-Mora, María Isabel; Danzi, Matt C.; Houlden, Henry; Zuchner, Stephan; Márquez, Fabián; Ramió i Torrentà, Lluís
Journal of Neurology. 272(3)
Academic Journal
Dolzhenko, Egor; English, Adam; Dashnow, Harriet; De Sena Brandine, Guilherme; Mokveld, Tom; Rowell, William J.; Karniski, Caitlin; Kronenberg, Zev; Danzi, Matt C.; Cheung, Warren A.; Bi, Chengpeng; Farrow, Emily; Wenger, Aaron; Chua, Khi Pin; Martínez-Cerdeño, Verónica; Bartley, Trevor D.; Jin, Peng; Nelson, David L.; Zuchner, Stephan; Pastinen, Tomi; Quinlan, Aaron R.; Sedlazeck, Fritz J.; Eberle, Michael A.
Nature Biotechnology: The Science and Business of Biotechnology. 42(10):1606-1614
Academic Journal
Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josée; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Céline; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.
Nature Genetics. 56(7):1366-1370
Academic Journal
Record, Christopher J.; Grider, Tiffany; Rebelo, Adriana P.; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C.; Poh, Roy; Tomaselli, Pedro J.; Frezatti, Rodrigo S.; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R.; Harms, Matthew B.; Weihl, Conrad C.; Marques Junior, Wilson; Claeys, Kristl G.; Blake, Julian C.; Holt, James K. L.; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T.; Falzone, Yuri M.; Previtali, Stefano C.; Menezes, Manoj P.; Vucic, Steve; Laura, Matilde; Kennerson, Marina L.; Shy, Michael E.; Zuchner, Stephan; Reilly, Mary M.
Academic Journal
Fazal, Sarah; Danzi, Matt C.; Xu, Isaac; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil; Reuter, Chloe; Marwaha, Shruti; Wheeler, Matthew; Dolzhenko, Egor; Lucas, Francesca; Wuchty, Stefan; Tekin, Mustafa; Züchner, Stephan; Aguiar-Pulido, Vanessa
Genome Biology. 25(1)
Academic Journal
Koutsis, Georgios ; Kartanou, Chrisoula ; Kontogeorgiou, Zoi ; Koniari, Chrysoula ; Mitrousias, Alexandros ; Pellerin, David ; Dicaire, Marie-Jose ; Iruzubieta, Pablo ; Danzi, Matt C. ; Athanassopoulos, Konstantinos ; Ragazos, Nikolaos ; Stamelou, Maria ; Rentzos, Michail ; Anagnostou, Evangelos ; Zuchner, Stephan ; Brais, Bernard ; Houlden, Henry ; Panas, Marios ; Stefanis, Leonidas ; Karadima, Georgia
In Journal of the Neurological Sciences 15 December 2024 467
Academic Journal
Danzi, Matt C. ; Powell, Eric ; Rebelo, Adriana P. ; Dohrn, Maike F. ; Beijer, Danique ; Fazal, Sarah ; Xu, Isaac R.L. ; Medina, Jessica ; Chen, Sitong ; Arcia de Jesus, Yeisha ; Schatzman, Jacquelyn ; Hershberger, Ray E. ; Saporta, Mario ; Baets, Jonathan ; Falk, Marni ; Herrmann, David N. ; Scherer, Steven S. ; Reilly, Mary M. ; Cortese, Andrea ; Marques, Wilson ; Cornejo-Olivas, Mario R. ; Sanmaneechai, Oranee ; Kennerson, Marina L. ; Jordanova, Albena ; Silva, Thiago Y.T. ; Pedroso, Jose Luiz ; Schierbaum, Luca ; Ebrahimi-Fakhari, Darius ; Peric, Stojan ; Lee, Yi-Chung ; Synofzik, Matthis ; Tekin, Mustafa ; Ravenscroft, Gianina ; Shy, Mike ; Basak, Nazli ; Schule, Rebecca ; Zuchner, Stephan
In Experimental Neurology December 2024 382
Academic Journal
Beijer, Danique; Fogel, Brent L.; Beltran, Sergi; Danzi, Matt C.; Németh, Andrea H.; Züchner, Stephan; Synofzik, Matthis
The Cerebellum. 23(2):391-400
Academic Journal
Maike F. Dohrn; Guney Bademci; Adriana P. Rebelo; Médéric Jeanne; Nicholas A. Borja; Danique Beijer; Matt C. Danzi; Stephanie A. Bivona; Paul Gueguen; Mohammad F. Zafeer; Undiagnosed Diseases Network; Mustafa Tekin; Stephan Züchner
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 1075-1079 (2024)
Academic Journal
Ouyang, Riwei ; Wan, Linlin ; Pellerin, David ; Long, Zhe ; Hu, Jian ; Jiang, Qian ; Wang, Chunrong ; Peng, Linliu ; Peng, Huirong ; He, Lang ; Qiu, Rong ; Wang, Junling ; Guo, Jifeng ; Shen, Lu ; Brais, Bernard ; Danzi, Matt C. ; Zuchner, Stephan ; Tang, Beisha ; Chen, Zhao ; Jiang, Hong
In eBioMedicine April 2024 102
Academic Journal
Pellerin, David ; Heindl, Felix ; Wilke, Carlo ; Danzi, Matt C. ; Traschütz, Andreas ; Ashton, Catherine ; Dicaire, Marie-Josée ; Cuillerier, Alexanne ; Del Gobbo, Giulia ; Boycott, Kym M. ; Claassen, Jens ; Rujescu, Dan ; Hartmann, Annette M. ; Zuchner, Stephan ; Brais, Bernard ; Strupp, Michael ; Synofzik, Matthis
In eBioMedicine April 2024 102
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