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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Electronic Resource
Brunklaus, A; Bruenger, T; Feng, T; Fons, C; Lehikoinen, A; Panagiotakaki, E; Vintan, M-A; Symonds, J; Andrew, J; Arzimanoglou, A; Delima, S; Gallois, J; Hanrahan, D; Lesca, G; MacLeod, S; Marjanovic, D; McTague, A; Nunez-Enamorado, N; Perez-Palma, E; Scott Perry, M; Pysden, K; Russ-Hall, SJ; Scheffer, IE; Sully, K; Syrbe, S; Vaher, U; Velayutham, M; Vogt, J; Weiss, S; Wirrell, E; Zuberi, SM; Lal, D; Moller, RS; Mantegazza, M; Cestele, S
Academic Journal
Ricotti, Valeria; Ridout, Deborah A; Pane, Marika; Main, Marion; Mayhew, Anna; Mercuri, Eugenio; Manzur, Adnan Y; Muntoni, Francesco; Robb, S; Quinlivan, R; Sarkozy, A; Butler, J; Bushby, K; Straub, V; Guglieri, M; Eagle, M; Roper, H; McMurchie, H; Childs, A; Pysden, K; Pallant, L; Spinty, S; Peachey, G; Shillington, A; Wraige, E; Jungbluth, H; Sheehan, J; Spahr, R; Hughes, I; Bateman, E; Cammiss, C; Willis, T; Groves, L; Emery, N; Baxter, P; Senior, M; Scott, E; Hartley, L; Parsons, B; Majumdar, A; Jenkins, L; Toms, B; Naismith, K; Keddie, A; Horrocks, I; Di Marco, M; Chow, G; Miah, A; de Goede, C; Thomas, N; Geary, M; Palmer, J; White, C; Greenfield, K; Wilson, I; Messina, S.; Berardinelli, A.; Comi, G.; DʼAmico, A.; Bertini, E.; Bruno, C.; Politano, L.; Battini, R.; Pegoraro, E.; Pini Child, A.; Mongini, T.; Morandi, L.
Journal of Neurology, Neurosurgery & Psychiatry. Feb 01, 2016 87(2):149-155
Academic Journal
CHILDS, A M; LOGAN, C; MUNTONI, F; SZABADKAI, G; DUCHEN, M; PHADKE, R; SEWRY, C; PYSDEN, K; ROPER, H; CHOW, G; NIKS, E; KRIEK, M; LEWIS-SMITH, D; CHINNERY, P; SHERIDAN, E
Developmental Medicine & Child Neurology. Jan 01, 2015 57 Suppl 1:2-2
Academic Journal
Ricotti, Valeria; Ridout, Deborah A; Scott, Elaine; Quinlivan, Ros; Robb, Stephanie A; Manzur, Adnan Y; Muntoni, Francesco; Manzur, A; Muntoni, F; Robb, S; Quinlivan, R; Ricotti, V; Main, M; Bushby, K; Straub, V; Sarkozy, A; Guglieri, M; Strehle, E; Eagle, M; Mayhew, A; Roper, H; McMurchie, H; Childs, A; Pysden, K; Pallant, L; Spinty, S; Peachey, G; Shillington, A; Wraige, E; Jungbluth, H; Sheehan, J; Spahr, R; Hughes, I; Bateman, E; Cammiss, C; Willis, T; Groves, L; Emery, N; Baxter, P; Senior, M; Hartley, L; Parsons, B; Majumdar, A; Jenkins, L; Naismith, K; Keddie, A; Horrocks, I; Di Marco, M; Chow, G; Miah, A; de Goede, C; Thomas, N; Geary, M; Palmer, J; White, C; Greenfield, K; Scott, E
Journal of Neurology, Neurosurgery & Psychiatry. Jun 01, 2013 84(6):698-705
Academic Journal
Developmental Medicine & Child Neurology. Jan 01, 2013 55 Suppl 1:3-3
Electronic Resource
Ng, Y; Aston, C; Diodato, D; Morris, A; Ulrick, N; Kmoch, S; Houšt?k, J; Martinelli, D; Haghighi, A; Atiq, M; Anton Gamero, M; Garcia-Martinez, E; Kratochvilova, H; Santra, S; Brown, R; Brown, G; Ragge, N; Monaravi, A; Pysden, K; Ravn, K; Cassey, J; Khan, A; Chakrapani, A; Vassallo, G; Simons, C; McKeever, K; O'Sullivan, S; Childs, A; Østergaard, E; Vanderver, A; Goldstein, A; Vogt, J; Taylor, R; McFarland, R
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease; The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Electronic Resource
Ricotti, V; Ridout, Da; Pane, M; Main, M; Mayhew, A; Mercuri, E; Manzur, Ay; Muntoni, F; Robb, S; Quinlivan, R; Sarkozy, A; Butler, J; Bushby, K; Straub, V; Guglieri, M; Eagle, M; Roper, H; McMurchie, H; Childs, A; Pysden, K; Pallant, L; Spinty, S; Peachey, G; Shillington, A; Wraige, E; Jungbluth, H; Sheehan, J; Spahr, R; Hughes, I; Bateman, E; Cammiss, C; Willis, T; Groves, L; Emery, N; Baxter, P; Senior, M; Scott, E; Hartley, L; Parsons, B; Majumdar, A; Jenkins, L; Toms, B; Naismith, K; Keddie, A; Horrocks, I; Di Marco, M; Chow, G; Miah, A; de Goede, C; Thomas, N; Geary, M; Palmer, J; White, C; Greenfield, K; Wilson, I; Messina, S; Berardinelli, A; Comi, G; D'Amico, A; Bertini, E; Bruno, C; Politano, L; Battini, R; Pegoraro, E; Pini, A; Mongini, T; Morandi, L; Pane, M (ORCID:0000-0002-4851-6124); Mercuri, E (ORCID:0000-0002-9851-5365)
Academic Journal
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