학술논문
'학술논문'
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1~10
Academic Journal
McDonagh, Ellen M; Rueda, Antonio; Polychronopoulos, Dimitris; Chan, Georgia; Angus-Leppan, Heather; Bhatia, Kailash P; Davison, James E; Festenstein, Richard; Fratta, Pietro; Giunti, Paola; Howard, Robin; Venkata, Laxmi; Laurá, Matilde; McEntagart, Meriel; Menzies, Lara; Morris, Huw; Reilly, Mary M; Robinson, Robert; Rosser, Elisabeth; Faravelli, Francesca; Schrag, Anette; Schott, Jonathan M; Warner, Thomas T; Wood, Nicholas W; Bourn, David; Eggleton, Kelly; Labrum, Robyn; Twiss, Philip; Abbs, Stephen; Santos, Liana; Almheiri, Ghareesa; Sheikh, Isabella; Vandrovcova, Jana; Patch, Christine; Taylor Tavares, Ana Lisa; Hyder, Zerin; Need, Anna; Brittain, Helen; Baple, Emma; Moutsianas, Loukas; Deshpande, Viraj; Perry, Denise L; Ajay, Subramanian S.; Chawla, Aditi; Rajan, Vani; Oprych, Kathryn; Chinnery, Patrick F; Douglas, Angela; Wilson, Gill; Ellard, Sian; Temple, I Karen; Mumford, Andrew; McMullan, Dom; Naresh, Kikkeri; Flinter, Frances A; Taylor, Jenny C; Greenhalgh, Lynn; Newman, William; Brennan, Paul; Sayer, John A; Raymond, F Lucy; Chitty, Lyn S; Ambrose, John C.; Arumugam, Prabhu; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Craig, Clare E.H.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Furió-Tarí, Pedro; Hackett, Joanne; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kayikci, Melis; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; Mueller, Michael; Murugaesu, Nirupa; Odhams, Chris A.; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Thompson, Simon R.; Tregidgo, Carolyn; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Ibañez, Kristina; Polke, James ; Hagelstrom, R Tanner ; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Houlden, Henry; Rendon, Augusto; Caulfield, Mark J; Eberle, Michael A; Taft, Ryan J ; Tucci, Arianna
In The Lancet Neurology March 2022 21(3):234-245
Academic Journal
Labrum, Robyn; Thomas-Black, Gilbert; Manso, Katarina; Solanky, Nita; Gellera, Cinzia; Mongelli, Alessia; Castaldo, Anna; Fichera, Mario; Palau, Francesc; O'Callaghan, Mar; Biet, Marie; Monin, Marie Lorraine; Eigentler, Andreas; Indelicato, Elisabetta; Amprosi, Matthias; Radelfahr, Florentine; Bischoff, Almut T.; Holtbernd, Florian; Brcina, Nikolina; Hohenfeld, Christian; Koutsis, Georgios; Breza, Marianthi; Bertini, Enrico; Vasco, Gessica; Reetz, Kathrin ; Dogan, Imis ; Hilgers, Ralf-Dieter; Giunti, Paola; Parkinson, Michael H; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; Rodríguez de Rivera Garrido, Francisco Javier; Rummey, Christian; Schöls, Ludger; Hayer, Stefanie N; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Schulz, Jörg B
In The Lancet Neurology May 2021 20(5):362-372
Academic Journal
Aitken, Jim; Allen, Zoe; Ambler, Rachel; Ambrose, Karen; Ashton, Emma; Avola, Alida; Balakrishnan, Samutheswari; Barns-Jenkins, Caitlin; Barr, Genevieve; Barrell, Sam; Basu, Souradeep; Beale, Rupert; Beesley, Clare; Bhardwaj, Nisha; Bibi, Shahnaz; Bineva-Todd, Ganka; Biswas, Dhruva; Blackman, Michael J.; Bonnet, Dominique; Bowker, Faye; Broncel, Malgorzata; Brooks, Claire; Buck, Michael D.; Buckton, Andrew; Budd, Timothy; Burrell, Alana; Busby, Louise; Bussi, Claudio; Butterworth, Simon; Byott, Matthew; Byrne, Fiona; Byrne, Richard; Caidan, Simon; Campbell, Joanna; Canton, Johnathan; Cardoso, Ana; Carter, Nick; Carvalho, Luiz; Carzaniga, Raffaella; Chandler, Natalie; Chen, Qu; Cherepanov, Peter; Churchward, Laura; Clark, Graham; Clayton, Bobbi; Cobolli Gigli, Clementina; Collins, Zena; Cottrell, Sally; Crawford, Margaret; Cubitt, Laura; Cullup, Tom; Davies, Heledd; Davis, Patrick; Davison, Dara; Dearing, Vicky; Debaisieux, Solene; Diaz-Romero, Monica; Dibbs, Alison; Diring, Jessica; Driscoll, Paul C.; D'Avola, Annalisa; Earl, Christopher; Edwards, Amelia; Ekin, Chris; Evangelopoulos, Dimitrios; Faraway, Rupert; Fearns, Antony; Ferron, Aaron; Fidanis, Efthymios; Fitz, Dan; Fleming, James; Frampton, Daniel; Frederico, Bruno; Gaiba, Alessandra; Gait, Anthony; Gamblin, Steve; Gärtner, Kathleen; Gaul, Liam; Golding, Helen M.; Goldman, Jacki; Goldstone, Robert; Gomez Dominguez, Belen; Gong, Hui; Grant, Paul R.; Greco, Maria; Grobler, Mariana; Guedan, Anabel; Gutierrez, Maximiliano G.; Hackett, Fiona; Hall, Ross; Halldorsson, Steinar; Harris, Suzanne; Hashim, Sugera; Hatipoglu, Emine; Healy, Lyn; Heaney, Judith; Herbst, Susanne; Hewitt, Graeme; Higgins, Theresa; Hindmarsh, Steve; Hirani, Rajnika; Hope, Joshua; Horton, Elizabeth; Hoskins, Beth; Howell, Michael; Howitt, Louise; Hoyle, Jacqueline; Htun, Mint R.; Hubank, Michael; Huerga Encabo, Hector; Hughes, Deborah; Hughes, Jane; Huseynova, Almaz; Hwang, Ming-Shih; Instrell, Rachael; Jackson, Deborah; Jamal-Hanjani, Mariam; Jenkins, Lucy; Jiang, Ming; Johnson, Mark; Jones, Leigh; Kanu, Nnennaya; Kassiotis, George; Kelly, Gavin; Kiely, Louise; Teixeira, Anastacio King Spert; Kirk, Stuart; Kjaer, Svend; Knuepfer, Ellen; Komarov, Nikita; Kotzampaltiris, Paul; Kousis, Konstantinos; Krylova, Tammy; Kucharska, Ania; Labrum, Robyn; Lambe, Catherine; Lappin, Michelle; Lee, Stacey-Ann; Levett, Andrew; Levett, Lisa; Levi, Marcel; Liu, Hon Wing; Loughlin, Sam; Lu, Wei-Ting; MacRae, James I.; Madoo, Akshay; Marczak, Julie A.; Martensson, Mimmi; Martinez, Thomas; Marzook, Bishara; Matthews, John; Matz, Joachim M.; McCall, Samuel; McCoy, Laura E.; McKay, Fiona; McNamara, Edel C.; Minutti, Carlos M.; Mistry, Gita; Molina-Arcas, Miriam; Montaner, Beatriz; Montgomery, Kylie; Moore, Catherine; Moore, David; Moraiti, Anastasia; Moreira-Teixeira, Lucia; Mukherjee, Joyita; Naceur-Lombardelli, Cristina; Nelson, Aileen; Nicod, Jerome; Nightingale, Luke; Nofal, Stephanie; Nurse, Paul; Nutan, Savita; Oedekoven, Caroline; O'Garra, Anne; O'Leary, Jean D.; Olsen, Jessica; O'Neill, Olga; O'Reilly, Nicola; Suarez, Paula Ordonez; Osborne, Neil; Pabari, Amar; Pajak, Aleksandra; Papayannopoulos, Venizelos; Paraskevopoulou, Stavroula M; Patel, Namita; Patel, Yogen; Paun, Oana; Peat, Nigel; Peces-Barba Castano, Laura; Caballero, Ana Perez; Perez-Lloret, Jimena; Perrault, Magali S.; Perrin, Abigail; Poh, Roy; Poirier, Enzo Z.; Polke, James M.; Pollitt, Marc; Prieto-Godino, Lucia; Proust, Alize; Puvirajasinghe, Clinda; Queval, Christophe; Ramachandran, Vijaya; Ramaprasad, Abhinay; Ratcliffe, Peter; Reed, Laura; Reis e Sousa, Caetano; Richardson, Kayleigh; Ridewood, Sophie; Roberts, Fiona; Roberts, Rowenna; Rodgers, Angela; Romero Clavijo, Pablo; Rosa, Annachiara; Rossi, Alice; Roustan, Chloe; Rowan, Andrew; Sahai, Erik; Sait, Aaron; Sala, Katarzyna; Sanchez, Emilie; Sanderson, Theo; Santucci, Pierre; Sardar, Fatima; Sateriale, Adam; Saunders, Jill A.; Sawyer, Chelsea; Schlott, Anja; Schweighoffer, Edina; Segura-Bayona, Sandra; Shah Punatar, Rajvee; Shahmanesh, Maryam; Shaw, Joe; Silva Dos Santos, Mariana; Silvestre, Margaux; Singer, Matthew; Snell, Daniel M.; Song, Ok-Ryul; Spyer, Moira J.; Steel, Louisa; Strange, Amy; Sullivan, Adrienne E.; Tan, Michele S.Y.; Tautz-Davis, Zoe H.; Taylor, Effie; Taylor, Gunes; Taylor, Harriet B.; Taylor-Beadling, Alison; Teixeira Subtil, Fernanda; Terré Torras, Berta; Toolan-Kerr, Patrick; Torelli, Francesca; Toteva, Tea; Treeck, Moritz; Trojer, Hadija; Tsai, Ming-Han C.; Turner, James M.A.; Turner, Melanie; Ule, Jernej; Ulferts, Rachel; Vanloo, Sharon P.; Veeriah, Selvaraju; Venkatesan, Subramanian; Vousden, Karen; Wack, Andreas; Walder, Claire; Walker, Philip A.; Wang, Yiran; Ward, Sophia; Wenman, Catharina; Williams, Luke; Williams, Matthew J.; Keong Wong, Wai; Wright, Joshua; Wu, Mary; Wynne, Lauren; Xiang, Zheng; Yap, Melvyn; Zagalak, Julian A.; Zecchin, Davide; Zillwood, Rachel; Carthiyaniamma, Santhakumari; DeTisi, Jane; Dick, Julie; Hill, Andrea; Kipper, Karin; Kullar, Birinder; Norris, Sarah; Rugg-Gunn, Fergus; Salvatierra, Rebecca; Shaya, Gabriel; Sloan, Astrid; Singh, Priyanka; Varley, James; Whatley, Ben; Balestrini, Simona; Koepp, Matthias J.; Gandhi, Sonia; Rickman, Hannah M.; Shin, Gee Yen; Houlihan, Catherine F.; Anders-Cannon, Jonny; Silvennoinen, Katri; Xiao, Fenglai; Zagaglia, Sara; Hudgell, Kirsty; Ziomek, Mariusz; Haimes, Paul; Sampson, Adam; Parker, Annie; Helen Cross, J.; Pardington, Rosemarie; Nastouli, Eleni; Swanton, Charles; Sander, Josemir W.; Sisodiya, Sanjay M.
In Epilepsy & Behavior February 2021 115
Academic Journal
Diallo, Alhassane; Jacobi, Heike; Cook, Arron; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sobanska, Anna; Sulek, Anna; Schmitz-Hübsch, Tanja; Schöls, Ludger; Hengel, Holger; Melegh, Bela; Filla, Alessandro; Antenora, Antonella; Infante, Jon; Berciano, José; van de Warrenburg, Bart P; Timmann, Dagmar; Boesch, Sylvia; Pandolfo, Massimo; Schulz, Jörg B; Bauer, Peter; Giunti, Paola; Kang, Jun-Suk; Klockgether, Thomas; Tezenas du Montcel, Sophie
In The Lancet Neurology April 2018 17(4):327-334
Academic Journal
In Journal of the Neurological Sciences 2011 306(1):62-65
Academic Journal
Wade, Charles; Williams, Thomas; Labrum, Robyn; Patel, Yogen; Cali, Elisa; Davagnanam, Indran; Adams, Matthew E.; Barkhof, Frederik; Murphy, Elaine; Chataway, Jeremy; Houlden, Henry; Lynch, David S.
Academic Journal
Macken, William L.; Falabella, Micol; Pizzamiglio, Chiara; Woodward, Cathy E.; Scotchman, Elizabeth; Chitty, Lyn S.; Polke, James M.; Bugiardini, Enrico; Hanna, Michael G.; Vandrovcova, Jana; Chandler, Natalie; Labrum, Robyn; Pitceathly, Robert D.S.
Expert Review of Molecular Diagnostics; Sep2023, Vol. 23 Issue 9, p797-814, 18p
Academic Journal
Mavraki, Eleni; Labrum, Robyn; Sergeant, Kate; Alston, Charlotte L.; Woodward, Cathy; Smith, Conrad; Knowles, Charlotte V. Y.; Patel, Yogen; Hodsdon, Philip; Baines, Jack P.; Blakely, Emma L.; Polke, James; Taylor, Robert W.; Fratter, Carl
European Journal of Human Genetics. 31(2):148-163
Academic Journal
Macken, William L.; Falabella, Micol; McKittrick, Caroline; Pizzamiglio, Chiara; Ellmers, Rebecca; Eggleton, Kelly; Woodward, Cathy E.; Patel, Yogen; Labrum, Robyn; Genomics England Research Consortium; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.
Nature Communications; 11/8/2022, Vol. 13 Issue 1, p1-9, 9p
Academic Journal
Mavraki, Eleni; Labrum, Robyn; Sergeant, Kate; Alston, Charlotte L. L.; Woodward, Cathy; Smith, Conrad; Knowles, Charlotte V. Y.; Patel, Yogen; Hodsdon, Philip; Baines, Jack P. P.; Blakely, Emma L. L.; Polke, James; Taylor, Robert W. W.; Fratter, Carl
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