المؤلفون: Gorman, KM, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, KJ, Bryant, E, Reich, A, Schneider, AL, Pressler, RM, Simpson, MA, Debelle, GD, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, AR, King, MD, Cross, JH, Poduri, A, Mefford, HC, Scheffer, IE, Haack, TB, McCullagh, G, Study, Deciphering Developmental Disorders, Consortium, UK10K, BioResource, NIHR, Rue-Albrecht, K, Millichap, JJ, Carvill, GL, Clayton-Smith, J, Maher, ER, Raymond, FL, Kurian, MA

العلاقة: https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9cTest; https://doi.org/10.1016/j.ajhg.2019.03.005Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.005Test
https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9cTest

المؤلفون: Sanders, SJ, Campbell, AJ, Cottrell, JR, Moller, RS, Wagner, FF, Auldridge, AL, Bernier, RA, Catterall, WA, Chung, WK, Empfield, JR, George, AL, Hipp, JF, Khwaja, O, Kiskinis, E, Lal, D, Malhotra, D, Millichap, JJ, Otis, TS, Petrou, S, Pitt, G, Schust, LF, Taylor, CM, Tjernagel, J, Spiro, JE, Bender, KJ

المصدر: Trends in Neurosciences , 41 (7) pp. 442-456. (2018)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10056463/1/Sanders%20TINS%202018.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10056463Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10056463/1/Sanders%20TINS%202018.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10056463Test/

المؤلفون: Lacuey, N, Zonjy, B, Hampson, JP, Rani, MRS, Zaremba, A, Sainju, RK, Gehlbach, BK, Schuele, S, Friedman, D, Devinsky, O, Nei, M, Harper, RM, Allen, L, Diehl, B, Millichap, JJ, Bateman, L, Granner, MA, Dragon, DN, Richerson, GB, Lhatoo, SD

المصدر: Epilepsia , 59 (3) pp. 573-582. (2018)

مصطلحات موضوعية: apnea, breathing, seizures, sudden unexpected death in epilepsy, temporal epilepsy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10042085/1/Lacuey%20N%20Epilepsia%202018.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10042085Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10042085/1/Lacuey%20N%20Epilepsia%202018.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10042085Test/

المؤلفون: Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, HO, Helbig, KL, Tang, S, Willing, MC, Tinkle, BT, Adams, DJ, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, TM, Mefford, HC, Myers, CT, Muir, AM, LaCroix, A, Sadleir, L, Scheffer, IE, Brilstra, E, van Haelst, MM, van der Smagt, JJ, Bok, LA, Møller, RS, Jensen, UB, Millichap, JJ, Berg, AT, Goldberg, EM, De Bie, I, Fox, S, Major, P, Jones, JR, Zackai, EH, Abou Jamra, R, Rolfs, A, Leventer, RJ, Lawson, JA, Roscioli, T, Jansen, FE, Ranza, E, Korff, CM, Lehesjoki, AE, Courage, C, Linnankivi, T, Smith, DR, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, WH, Tarnopolsky, MA, Brady, LI, Wolff, M, Dondit, L, Pedro, HF, Parisotto, SE, Jones, KL, Patel, AD, Franz, DN, Vanzo, R, Marco, E, Ranells, JD, Di Donato, N, Dobyns, WB, Laube, B, Traynelis, SF, Lemke, JR

المصدر: urn:ISSN:0022-2593 ; urn:ISSN:1468-6244 ; Journal of Medical Genetics, 54, 7, 460-470

مصطلحات موضوعية: Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological, Brain Diseases, Heterozygote, Humans, Magnetic Resonance Imaging, Memantine, Molecular Targeted Therapy, Mutation, Neuroimaging, Phenotype, Receptors, N-Methyl-D-Aspartate, channelopathy, clustering of missense variants, epileptic encephalopathy, pathogenic GRIN2B mutations, precision medicine, anzsrc-for: 111403 Paediatrics, anzsrc-for: 110904 Neurology and Neuromuscular Diseases, anzsrc-for: 110311 Medical Genetics (excl. Cancer Genetics), anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1113895Test; http://purl.org/au-research/grants/nhmrc/APP1117394Test; http://purl.org/au-research/grants/nhmrc/APP1113531Test; http://hdl.handle.net/1959.4/unsworks_44264Test; https://doi.org/10.1136/jmedgenet-2016-104509Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104509Test
http://hdl.handle.net/1959.4/unsworks_44264Test

المؤلفون: Lam, WWK, Millichap, JJ, Soares, DC, Chin, R, McLellan, A, FitzPatrick, DR, Elmslie, F, Lees, MM, Schaefer, GB, DDD study, Abbott, CM

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/108693/1/mgg3219.pdfTest; Lam, WWK; Millichap, JJ; Soares, DC; Chin, R; McLellan, A; FitzPatrick, DR; Elmslie, F; Lees, MM; Schaefer, GB; DDD study; et al. Lam, WWK; Millichap, JJ; Soares, DC; Chin, R; McLellan, A; FitzPatrick, DR; Elmslie, F; Lees, MM; Schaefer, GB; DDD study; Abbott, CM (2016) Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Mol Genet Genomic Med, 4 (4). pp. 465-474. https://doi.org/10.1002/mgg3.219Test SGUL Authors: Elmslie, Frances

الإتاحة: https://doi.org/10.1002/mgg3.219Test
https://openaccess.sgul.ac.uk/id/eprint/108693Test/
https://openaccess.sgul.ac.uk/id/eprint/108693/1/mgg3219.pdfTest

المؤلفون: Spinelli, E, Christensen, KR, Bryant, E, Schneider, A, Rakotomamonjy, J, Muir, AM, Giannelli, J, Littlejohn, RO, Roeder, ER, Schmidt, B, Wilson, WG, Marco, EJ, Iwama, K, Kumada, S, Pisano, T, Barba, C, Vetro, A, Brilstra, EH, Jaarsveld, RH, Matsumoto, N, Goldberg-Stern, H, Carney, PW, Andrews, PI, El Achkar, CM, Berkovic, S, Rodan, LH, McWalter, K, Guerrini, R, Scheffer, IE, Mefford, HC, Mandelstam, S, Laux, L, Millichap, JJ, Guemez-Gamboa, A, Nairn, AC, Carvill, GL

العلاقة: Spinelli, E., Christensen, K. R., Bryant, E., Schneider, A., Rakotomamonjy, J., Muir, A. M., Giannelli, J., Littlejohn, R. O., Roeder, E. R., Schmidt, B., Wilson, W. G., Marco, E. J., Iwama, K., Kumada, S., Pisano, T., Barba, C., Vetro, A., Brilstra, E. H., Jaarsveld, R. H. ,. Carvill, G. L. (2021). Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. ANNALS OF NEUROLOGY, 90 (2), pp.274-284. https://doi.org/10.1002/ana.26147Test.; http://hdl.handle.net/11343/298741Test

الإتاحة: https://doi.org/10.1002/ana.26147Test
http://hdl.handle.net/11343/298741Test

المؤلفون: Elkind MS, Millichap JJ, Johnston KC

المصدر: Neurology; 4/24/2012, Vol. 78 Issue 17, p1284-1285, 2p

المؤلفون: Millichap JJ, Nordli DR Jr, Siren AL, Rantala H, Polvi A, Wessman M, Lehesjoki AE, Panayiotopoulos CP, Koutroumanidis M, Ferrie CD

المصدر: Neurology; 4/10/2012, Vol. 78 Issue 15, p1190-1191, 2p

المؤلفون: Millichap JJ, Goldstein JL

المصدر: Neurology; 11/16/2010, Vol. 75 Issue 20, pe85-e85, 1p

المؤلفون: Millichap JJ, Nguyen T, Ryan ME

المصدر: Neurology; 6/1/2010, Vol. 74 Issue 22, pe101-e101, 1p