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1دورية أكاديمية
المؤلفون: Rubboli G., Plazzi G., Picard F., Nobili L., Hirsch E., Chelly J., Prayson R. A., Boutonnat J., Bramerio M., Kahane P., Dibbens L. M., Gardella E., Baulac S., Moller R. S.
المساهمون: Rubboli, G., Plazzi, G., Picard, F., Nobili, L., Hirsch, E., Chelly, J., Prayson, R. A., Boutonnat, J., Bramerio, M., Kahane, P., Dibbens, L. M., Gardella, E., Baulac, S., Moller, R. S.
مصطلحات موضوعية: sleep-related hypermotor epilepsy, KCNT1
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30847371; info:eu-repo/semantics/altIdentifier/wos/WOS:000459708100018; volume:6; issue:2; firstpage:386; lastpage:391; numberofpages:6; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11380/1206119Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062086263; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)2328-9503
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2دورية أكاديمية
المؤلفون: Hughes, J., Dawson, R., Tea, M., McAninch, D., Piltz, S., Jackson, D., Stewart, L., Ricos, M., Dibbens, L., Harvey, N., Thomas, P.
مصطلحات موضوعية: Brain, Fibroblasts, Animals, Mice, Knockout, Humans, Epilepsy, Seizures, Disease Models, Animal, Multiprotein Complexes, GTPase-Activating Proteins, Signal Transduction, Gene Expression Regulation, Heterozygote, Mutation, CRISPR-Cas Systems, Mechanistic Target of Rapamycin Complex 1
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/nhmrc/628952Test; http://purl.org/au-research/grants/nhmrc/1083690Test; http://purl.org/au-research/grants/arc/FT130101254Test; http://purl.org/au-research/grants/nhmrc/1104718Test; Scientific Reports, 2017; 7(1):12618-1-12618-15; http://hdl.handle.net/2440/109257Test; McAninch, D. [0000-0001-9735-6553]; Harvey, N. [0000-0001-9839-8966]
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3دورية أكاديمية
المؤلفون: Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, des Portes V, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G.
المساهمون: Bonardi, Cm, Heyne, Ho, Fiannacca, M, Fitzgerald, Mp, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, Mm, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, Mc, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, Cd, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, Da, Kroes, Hy, Reale, C, Fenger, Cd, Tan, Wh, Dibbens, L, Bearden, Dr, Møller, R, Rubboli, G.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000743525200016; volume:144; firstpage:3635; lastpage:3650; journal:BRAIN; http://hdl.handle.net/11588/854937Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85110627655
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4دورية أكاديمية
المؤلفون: Courage C., Oliver K. L., Park E. J., Cameron J. M., Grabinska K. A., Muona M., Canafoglia L., Gambardella A., Said E., Afawi Z., Baykan B., Brandt C., di Bonaventura C., Chew H. B., Criscuolo C., Dibbens L. M., Castellotti B., Riguzzi P., Labate A., Filla A., Giallonardo A. T., Berecki G., Jackson C. B., Joensuu T., Damiano J. A., Kivity S., Korczyn A., Palotie A., Striano P., Uccellini D., Giuliano L., Andermann E., Scheffer I. E., Michelucci R., Bahlo M., Franceschetti S., Sessa W. C., Berkovic S. F., Lehesjoki A. -E.
المساهمون: Courage, C., Oliver, K. L., Park, E. J., Cameron, J. M., Grabinska, K. A., Muona, M., Canafoglia, L., Gambardella, A., Said, E., Afawi, Z., Baykan, B., Brandt, C., di Bonaventura, C., Chew, H. B., Criscuolo, C., Dibbens, L. M., Castellotti, B., Riguzzi, P., Labate, A., Filla, A., Giallonardo, A. T., Berecki, G., Jackson, C. B., Joensuu, T., Damiano, J. A., Kivity, S., Korczyn, A., Palotie, A., Striano, P., Uccellini, D., Giuliano, L., Andermann, E., Scheffer, I. E., Michelucci, R., Bahlo, M., Franceschetti, S., Sessa, W. C., Berkovic, S. F., Lehesjoki, A. -E.
مصطلحات موضوعية: dolichol-dependent glycosylation, epilepsy genetic, progressive myoclonus epilepsy, whole-exome sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000636658200014; volume:108; issue:4; firstpage:722; lastpage:738; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3231673Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103388736
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5دورية أكاديمية
المؤلفون: Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., TINUPER, PAOLO, LICCHETTA, LAURA, Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A. E.
المساهمون: Muona, M., Berkovic, S.F., Dibbens, L.M., Oliver, K.L., Maljevic, S., Bayly, M.A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S.E., Hildebrand, M.S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I.E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M.D., Ozkara, C., Andrade, D.M., Engelsen, B.A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A.J., Kauffmann, B., Duchowny, M., Moller, R.S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K.E., Daly, M.J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A.-E.
مصطلحات موضوعية: Amino Acid Sequence, Amino Acid Substitution, Animal, Base Sequence, Carrier Protein, Conserved Sequence, Exome, Female, Genes, Dominant, Heat-Shock Protein, Human, Male, Molecular Sequence Data, Myoclonic Epilepsies, Progressive, Pedigree, Prion, Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Shaw Potassium Channel, Species Specificity, Mutation, Missense, Point Mutation
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25401298; info:eu-repo/semantics/altIdentifier/wos/WOS:000346990400009; volume:47; issue:1; firstpage:39; lastpage:46; numberofpages:8; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/FP7/201413 ,242167, 261433, 261123; http://hdl.handle.net/11585/515030Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930946843; https://www.nature.com/articles/ng.3144Test
الإتاحة: https://doi.org/10.1038/ng.3144Test
http://hdl.handle.net/11585/515030Test
https://www.nature.com/articles/ng.3144Test -
6دورية أكاديمية
المؤلفون: Scerri, T., Riseley, J.R., Gillies, G., Pope, K., Burgess, R., Mandelstam, S.A., Dibbens, L., Chow, C.W., Maixner, W., Harvey, A.S., Jackson, G.D., Amor, D.J., Delatycki, M.B., Crino, P.B., Berkovic, S.F., Scheffer, I.E., Bahlo, M., Lockhart, P.J., Leventer, R.J.
وصف الملف: application/pdf
العلاقة: http://purl.org/au-research/grants/arc/FT100100764Test; http://purl.org/au-research/grants/nhmrc/1032364Test; Annals of Clinical and Translational Neurology, 2015; 2(5):575-580; https://hdl.handle.net/2440/133515Test
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7دورية أكاديمية
المؤلفون: Yamamoto, T., Shimojima, K., Sangu, N., Komoike, Y., Ishii, A., Abe, S., Yamashita, S., Imai, K., Kubota, T., Fukasawa, T., Okanishi, T., Enoki, H., Tanabe, T., Saito, A., Furukawa, T., Shimizu, T., Milligan, C., Petrou, S., Heron, S., Dibbens, L.
المساهمون: Ishii, R.
مصطلحات موضوعية: Humans, Epilepsy, Benign Neonatal, Seizures, Febrile, Genetic Predisposition to Disease, Chloride Channels, RNA, Messenger, Pedigree, DNA Mutational Analysis, Mutagenesis, Amino Acid Sequence, Base Sequence, Polymorphism, Single Nucleotide, Exons, Molecular Sequence Data, Infant, Newborn, Female, Male, Genetic Association Studies
وصف الملف: application/pdf
العلاقة: PLoS One, 2015; 10(3):e0118946-1-e0118946-11; http://hdl.handle.net/2440/97114Test; Heron, S. [0000-0001-8759-6748]
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8دورية أكاديمية
المؤلفون: Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, Leventer, RJ, Harvey, AS, Mullen, SA, Berkovic, SF, Sullivan, J, Scheffer, IE, Mefford, HC
العلاقة: pii: NG2015000240; Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., Leventer, R. J., Harvey, A. S., Mullen, S. A., Berkovic, S. F., Sullivan, J., Scheffer, I. E. & Mefford, H. C. (2015). Epileptic spasms are a feature of DEPDC5 mTORopathy. NEUROLOGY-GENETICS, 1 (2), https://doi.org/10.1212/NXG.0000000000000016Test.; http://hdl.handle.net/11343/258994Test
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9دورية أكاديمية
المؤلفون: Puskarjov, M., Seja, P., Heron, S., Williams, T., Ahmad, F., Iona, X., Oliver, K., Grinton, B., Vutskits, L., Scheffer, I., Petrou, S., Blaesse, P., Dibbens, L., Berkovic, S., Kaila, K.
مصطلحات موضوعية: Dendritic spines, febrile seizures, genic intolerance, KCC2, mutation
وصف الملف: application/pdf
العلاقة: EMBO Reports, 2014; 15(6):723-729; http://hdl.handle.net/2440/99325Test; Heron, S. [0000-0001-8759-6748]
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10دورية أكاديمية
المؤلفون: Yip, T S C, O'Doherty, C, Tan, N C K, Dibbens, L M, Suppiah, V
المصدر: The Pharmacogenomics Journal ; volume 14, issue 4, page 385-389 ; ISSN 1470-269X 1473-1150
مصطلحات موضوعية: Pharmacology, Genetics, Molecular Medicine
الإتاحة: https://doi.org/10.1038/tpj.2013.43Test
https://www.nature.com/articles/tpj201343.pdfTest
https://www.nature.com/articles/tpj201343Test
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