المؤلفون: Martins, S, Yahia, A, Costa, IPD, Siddig, HE, Abubaker, R, Koko, M, Corral-Juan, M, Matilla-Duenas, A, Brice, A, Durr, A, Leguern, E, Ranum, LPW, Amorim, A, Elsayed, LEO, Stevanin, G, Sequeiros, J

المصدر: Human genetics. 142(12):1747-1754

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154165726

المؤلفون: Koko M., Motelow J. E., Stanley K. E., Bobbili D. R., Dhindsa R. S., May P., Alldredge B. K., Allen A. S., Altmuller J., Amrom D., Andermann E., Auce P., Avbersek A., Baulac S., Bautista J. F., Becker F., Bellows S. T., Berghuis B., Berkovic S. F., Bluvstein J., Boro A., Bridgers J., Burgess R., Caglayan H., Cascino G. D., Cavalleri G. L., Chung S. -K., Cieuta-Walti C., Cloutier V., Consalvo D., Cossette P., Crumrine P., Delanty N., Depondt C., Desbiens R., Devinsky O., Dlugos D., Epstein M. P., Everett K., Fiol M., Fountain N. B., Francis B., French J., Freyer C., Friedman D., Gambardella A., Geller E. B., Girard S., Glauser T., Glynn S., Goldstein D. B., Gravel M., Haas K., Haut S. R., Heinzen E. L., Helbig I., Hildebrand M. S., Johnson M. R., Jorgensen A., Joshi S., Kanner A., Kirsch H. E., Klein K. M., Knowlton R. C., Koeleman B. P. C., Kossoff E. H., Krause R., Krenn M., Kunz W. S., Kuzniecky R., Langley S. R., LeGuern E., Lehesjoki A. -E., Lerche H., Leu C., Lortie A., Lowenstein D. H., Marson A. G., Mebane C., Mefford H. C., Meloche C., Moreau C., Motika P. V., Muhle H., Moller R. S., Nabbout R., Nguyen D. K., Nikanorova M., Novotny E. J., Nurnberg P., Ottman R., O'Brien T. J., Paolicchi J. M., Parent J. M., Park K., Peter S., Petrou S., Petrovski S., Pickrell W. O., Poduri A., Radtke R. A., Rees M. I., Regan B. M., Ren Z., Sadleir L. G., Sander J. W., Sander T., Scheffer I. E., Schubert J., Shellhaas R. A., Sherr E. H., Shih J. J., Shinnar S., Sills G. J., Singh R. K., Siren A., Sirven J., Sisodiya S. M., Smith M. C., Sonsma A. C. M., Striano P., Sullivan J., Thio L. L., Thomas R. H., Venkat A., Vining E. P. G., Von Allmen G. K., Wang Q., Weber Y. G., Weckhuysen S., Weisenberg J. L., Widdess-Walsh P., Winawer M. R., Wolking S., Zara F., Zimprich F.

المساهمون: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A.

مصطلحات موضوعية: GABRG2, GABAA receptor, GGE, familial epilepsy, sporadic epilepsy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35032048; info:eu-repo/semantics/altIdentifier/wos/WOS:000742638200001; volume:63; firstpage:723; lastpage:735; numberofpages:13; journal:EPILEPSIA; http://hdl.handle.net/11567/1080622; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122822705

الاتاحة: http://hdl.handle.net/11567/1080622
https://doi.org/10.1111/epi.17166

المؤلفون: Corbett M. A., Kroes T., Veneziano L., Bennett M. F., Florian R., Schneider A. L., Coppola A., Licchetta L., Franceschetti S., Suppa A., Wenger A., Mei D., Pendziwiat M., Kaya S., Delledonne M., Straussberg R., Xumerle L., Regan B., Crompton D., van Rootselaar A. -F., Correll A., Catford R., Bisulli F., Chakraborty S., Baldassari S., Tinuper P., Barton K., Carswell S., Smith M., Berardelli A., Carroll R., Gardner A., Friend K. L., Blatt I., Iacomino M., Di Bonaventura C., Striano S., Buratti J., Keren B., Nava C., Forlani S., Rudolf G., Hirsch E., Leguern E., Labauge P., Balestrini S., Sander J. W., Afawi Z., Helbig I., Ishiura H., Tsuji S., Sisodiya S. M., Casari G., Sadleir L. G., van Coller R., Tijssen M. A. J., Klein K. M., van den Maagdenberg A. M. J. M., Zara F., Guerrini R., Berkovic S. F., Pippucci T., Canafoglia L., Bahlo M., Striano P., Scheffer I. E., Brancati F., Depienne C., Gecz J.

المساهمون: Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., Wenger, A., Mei, D., Pendziwiat, M., Kaya, S., Delledonne, M., Straussberg, R., Xumerle, L., Regan, B., Crompton, D., van Rootselaar, A. -F., Correll, A., Catford, R., Bisulli, F., Chakraborty, S., Baldassari, S., Tinuper, P., Barton, K., Carswell, S., Smith, M., Berardelli, A., Carroll, R., Gardner, A., Friend, K. L., Blatt, I., Iacomino, M., Di Bonaventura, C., Striano, S., Buratti, J., Keren, B., Nava, C., Forlani, S., Rudolf, G., Hirsch, E., Leguern, E., Labauge, P., Balestrini, S., Sander, J. W., Afawi, Z., Helbig, I., Ishiura, H., Tsuji, S., Sisodiya, S. M., Casari, G., Sadleir, L. G., van Coller, R., Tijssen, M. A. J., Klein, K. M., van den Maagdenberg, A. M. J. M., Zara, F., Guerrini, R., Berkovic, S. F., Pippucci, T., Canafoglia, L., Bahlo, M., Striano, P., Scheffer, I. E., Brancati, F., Depienne, C., Gecz, J.

مصطلحات موضوعية: Adolescent, Adult, Carrier Protein, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 2, Epilepsies, Myoclonic, Female, Male, Middle Aged, Pedigree, Young Adult, DNA Repeat Expansion, Introns

Relation: info:eu-repo/semantics/altIdentifier/pmid/31664034; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500010; volume:10; issue:1; firstpage:4920; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11573/1380085; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074274431

الاتاحة: http://hdl.handle.net/11573/1380085
https://doi.org/10.1038/s41467-019-12671-y

المؤلفون: Baldassari S., Picard F., Verbeek N. E., van Kempen M., Brilstra E. H., Lesca G., Conti V., Guerrini R., Bisulli F., Licchetta L., Pippucci T., Tinuper P., Hirsch E., de Saint Martin A., Chelly J., Rudolf G., Chipaux M., Ferrand-Sorbets S., Dorfmuller G., Sisodiya S., Balestrini S., Schoeler N., Hernandez-Hernandez L., Krithika S., Oegema R., Hagebeuk E., Gunning B., Deckers C., Berghuis B., Wegner I., Niks E., Jansen F. E., Braun K., de Jong D., Rubboli G., Talvik I., Sander V., Uldall P., Jacquemont M. -L., Nava C., Leguern E., Julia S., Gambardella A., d'Orsi G., Crichiutti G., Faivre L., Darmency V., Benova B., Krsek P., Biraben A., Lebre A. -S., Jennesson M., Sattar S., Marchal C., Nordli D. R., Lindstrom K., Striano P., Lomax L. B., Kiss C., Bartolomei F., Lepine A. F., Schoonjans A. -S., Stouffs K., Jansen A., Panagiotakaki E., Ricard-Mousnier B., Thevenon J., de Bellescize J., Catenoix H., Dorn T., Zenker M., Muller-Schluter K., Brandt C., Krey I., Polster T., Wolff M., Balci M., Rostasy K., Achaz G., Zacher P., Becher T., Cloppenborg T., Yuskaitis C. J., Weckhuysen S., Poduri A., Lemke J. R., Moller R. S., Baulac S.

المساهمون: Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. -L., Nava, C., Leguern, E., Julia, S., Gambardella, A., D'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. -S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. -S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Moller, R. S., Baulac, S.

مصطلحات موضوعية: DEPDC5, Focal cortical dysplasia, Genetic focal epilepsy, mTORC1 pathway, SUDEP

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000458017600019; volume:21; firstpage:398; lastpage:408; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11567/1021985; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052297159

الاتاحة: http://hdl.handle.net/11567/1021985
https://doi.org/10.1038/s41436-018-0060-2

المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31664039; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; volume:10 - Article number: 4919 (2019); firstpage:4919; lastpage:4929; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1022007; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074285073

الاتاحة: http://hdl.handle.net/11567/1022007
https://doi.org/10.1038/s41467-019-12763-9

المؤلفون: Siekierska A., Stamberger H., Deconinck T., Oprescu S. N., Partoens M., Zhang Y., Sourbron J., Adriaenssens E., Mullen P., Wiencek P., Hardies K., Lee J. -S., Giong H. -K., Distelmaier F., Elpeleg O., Helbig K. L., Hersh J., Isikay S., Jordan E., Karaca E., Kecskes A., Lupski J. R., Kovacs-Nagy R., May P., Narayanan V., Pendziwiat M., Ramsey K., Rangasamy S., Shinde D. N., Spiegel R., Timmerman V., von Spiczak S., Helbig I., Balak C., Belnap N., Claasen A., Courtright A., de Both M., Huentelman M. J., Naymik M., Richholt R., Siniard A. L., Szelinger S., Craig D. W., Schrauwen I., Afawi Z., Balling R., Baulac S., Barisic N., Caglayan H. S., Craiu D., Guerrero-Lopez R., Guerrini R., Hjalgrim H., Jahn J., Klein K. M., Leguern E., Lemke J. R., Lerche H., Marini C., Moller R. S., Muhle H., Rosenow F., Serratosa J., Suls A., Stephani U., Sterbova K., Striano P., Zara F., Weckhuysen S., Francklyn C., Antonellis A., de Witte P., De Jonghe P.

المساهمون: Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S. N., Partoens, M., Zhang, Y., Sourbron, J., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J. -S., Giong, H. -K., Distelmaier, F., Elpeleg, O., Helbig, K. L., Hersh, J., Isikay, S., Jordan, E., Karaca, E., Kecskes, A., Lupski, J. R., Kovacs-Nagy, R., May, P., Narayanan, V., Pendziwiat, M., Ramsey, K., Rangasamy, S., Shinde, D. N., Spiegel, R., Timmerman, V., von Spiczak, S., Helbig, I., Balak, C., Belnap, N., Claasen, A., Courtright, A., de Both, M., Huentelman, M. J., Naymik, M., Richholt, R., Siniard, A. L., Szelinger, S., Craig, D. W., Schrauwen, I., Afawi, Z., Balling, R., Baulac, S., Barisic, N., Caglayan, H. S., Craiu, D., Guerrero-Lopez, R., Guerrini, R., Hjalgrim, H., Jahn, J., Klein, K. M., Leguern, E., Lemke, J. R., Lerche, H., Marini, C., Moller, R. S., Muhle, H., Rosenow, F., Serratosa, J., Suls, A., Stephani, U., Sterbova, K., Striano, P., Zara, F., Weckhuysen, S., Francklyn, C., Antonellis, A., de Witte, P., De Jonghe, P.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000458398900002; volume:10 Article number: 708 (2019); firstpage:708; lastpage:708; numberofpages:1; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1021920; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061489358

الاتاحة: http://hdl.handle.net/11567/1021920
https://doi.org/10.1038/s41467-018-07953-w

المؤلفون: SELLAMI, L., RUCHETON, B., BEN YOUNES, I., CAMUZAT, A., SARACINO, D., RINALDI, D., EPELBAUM, S., AZUAR, C., LEVY, R., AURIACOMBE, Sophie, HANNEQUIN, D., PARIENTE, J., BARBIER, M., BOUTOLEAU-BRETONNIÈRE, C., COURATIER, P., PASQUIER, F., DERAMECOURT, V., SAUVÉE, M., SARAZIN, M., LAGARDE, J., ROUÉ-JAGOT, C., FORLANI, S., JORNEA, L., DAVID, I., LEGUERN, E., DUBOIS, B., BRICE, A., CLOT, F., LAMARI, F., LE BER, I.

مصطلحات موضوعية: SEPIA, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/26362

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/26362
https://hdl.handle.net/20.500.12278/26362
https://doi.org/10.1016/j.neurobiolaging.2020.02.014

المؤلفون: Corbett, MA, Kroes, T, Veneziano, L, Bennett, MF, Florian, R, Schneider, AL, Coppola, A, Licchetta, L, Franceschetti, S, Suppa, A, Wenger, A, Mei, D, Pendziwiat, M, Kaya, S, Delledonne, M, Straussberg, R, Xumerle, L, Regan, B, Crompton, D, van Rootselaar, A-F, Correll, A, Catford, R, Bisulli, F, Chakraborty, S, Baldassari, S, Tinuper, P, Barton, K, Carswell, S, Smith, M, Berardelli, A, Carroll, R, Gardner, A, Friend, KL, Blatt, I, Iacomino, M, Di Bonaventura, C, Striano, S, Buratti, J, Keren, B, Nava, C, Forlani, S, Rudolf, G, Hirsch, E, Leguern, E, Labauge, P, Balestrini, S, Sander, JW, Afawi, Z, Helbig, I, Ishiura, H, Tsuji, S, Sisodiya, SM, Casari, G, Sadleir, LG, van Coller, R, Tijssen, MAJ, Klein, KM, van den Maagdenberg, AMJM, Zara, F, Guerrini, R, Berkovic, SF, Pippucci, T, Canafoglia, L, Bahlo, M, Striano, P, Scheffer, IE, Brancati, F, Depienne, C, Gecz, J

Relation: NHMRC/628952; pii: 10.1038/s41467-019-12671-y; Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., Wenger, A., Mei, D., Pendziwiat, M., Kaya, S., Delledonne, M., Straussberg, R., Xumerle, L., Regan, B., Crompton, D. ,. Gecz, J. (2019). Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12671-y.; http://hdl.handle.net/11343/245206

الاتاحة: http://hdl.handle.net/11343/245206

المؤلفون: Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, Depienne, C

Relation: pii: 10.1038/s41467-019-12763-9; Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuehnel, T., Schroeder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L. ,. Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12763-9.; http://hdl.handle.net/11343/245207

الاتاحة: http://hdl.handle.net/11343/245207

المؤلفون: FOURNIER, C., BARBIER, M., CAMUZAT, A., ANQUETIL, V., LATTANTE, S., CLOT, F., CAZENEUVE, C., RINALDI, D., COURATIER, P., DERAMECOURT, V., SABATELLI, M., BELLIARD, S., VERCELLETTO, M., FORLANI, S., JORNEA, L., FRENCH, Clinical, GENETIC RESEARCH NETWORK ON, Ftld Ftld-Als, PREVDEMALS, GROUPS, F. TLD-Exome Study, LEGUERN, E., BRICE, A., LE BER, I.

مصطلحات موضوعية: Coll_SEPIA, Sciences du Vivant [q-bio]/Santé publique et épidémiologie

Relation: 1558-1497 (Electronic) 0197-4580 (Linking); https://oskar-bordeaux.fr/handle/20.500.12278/7899

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/7899
https://hdl.handle.net/20.500.12278/7899
https://doi.org/10.1016/j.neurobiolaging.2018.09.010

المؤلفون: de Sainte Agathe, J.M., Pode-Shakked, B., Naudion, S., Michaud, V., Arveiler, B., Fergelot, P., Delmas, J., Keren, B., Poirsier, C., Alkuraya, F.S., Tabarki, B., Bend, E., Davis, K., Bebin, M., Thompson, M.L., Bryant, E.M., Wagner, M., Hannibal, I., Lenberg, J., Krenn, M., Wigby, K.M., Friedman, J.R., Iascone, M., Cereda, A., Miao, T., Leguern, E., Argilli, E., Sherr, E., Caluseriu, O., Tidwell, T., Bayrak-Toydemir, P., Hagedorn, C., Brugger, M., Vill, K., Morneau-Jacob, F.D., Chung, W., Weaver, K.N., Owens, J.W., Husami, A., Chaudhari, B.P., Stone, B.S., Burns, K., Li, R., de Lange, I.M., Biehler, M., Ginglinger, E., Gérard, B., Stottmann, R.W., Trimouille, A.

المصدر: J. Med. Genet. 60, 999-1005 (2023)

مصطلحات موضوعية: Epilepsy, Human Genetics, Sequence Analysis, Dna

Relation: info:eu-repo/semantics/altIdentifier/pmid/37185208; info:eu-repo/semantics/altIdentifier/wos/000980709900001; info:eu-repo/semantics/altIdentifier/isbn/0022-2593; info:eu-repo/semantics/altIde

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67799
https://doi.org/10.1136/jmg-2022-108803

المؤلفون: Baldassari, S, Picard, F, Verbeek, NE, van Kempen, M, Brilstra, EH, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, FE, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, DR, Lindstrom, K, Striano, P, Lomax, LB, Kiss, C, Bartolomei, F, Lepine, AF, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, CJ, Weckhuysen, S, Poduri, A, Lemke, JR, Møller, RS, Baulac, S

المصدر: Genetics in Medicine (2018) (In press).

مصطلحات موضوعية: DEPDC5, Focal cortical dysplasia, Genetic focal epilepsy, SUDEP, mTORC1 pathway

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10055192/1/s41436-018-0060-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10055192/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10055192/1/s41436-018-0060-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10055192/

المؤلفون: May, P, Girard, S, Harrer, M, Bobbili, DR, Schubert, J, Wolking, S, Becker, F, Lachance-Touchette, P, Meloche, C, Gravel, M, Niturad, CE, Knaus, J, De Kovel, C, Toliat, M, Polvi, A, Iacomino, M, Guerrero-López, R, Baulac, S, Marini, C, Thiele, H, Altmüller, J, Jabbari, K, Ruppert, A-K, Jurkowski, W, Lal, D, Rusconi, R, Cestèle, S, Terragni, B, Coombs, ID, Reid, CA, Striano, P, Caglayan, H, Siren, A, Everett, K, Møller, RS, Hjalgrim, H, Muhle, H, Helbig, I, Kunz, WS, Weber, YG, Weckhuysen, S, Jonghe, PD, Sisodiya, SM, Nabbout, R, Franceschetti, S, Coppola, A, Vari, MS, Kasteleijn-Nolst Trenité, D, Baykan, B, Ozbek, U, Bebek, N, Klein, KM, Rosenow, F, Nguyen, DK, Dubeau, F, Carmant, L, Lortie, A, Desbiens, R, Clément, J-F, Cieuta-Walti, C, Sills, GJ, Auce, P, Francis, B, Johnson, MR, Marson, AG, Berghuis, B, Sander, JW, Avbersek, A, McCormack, M, Cavalleri, GL, Delanty, N, Depondt, C, Krenn, M, Zimprich, F, Peter, S, Nikanorova, M, Kraaij, R, van Rooij, J, Balling, R, Ikram, MA, Uitterlinden, AG, Avanzini, G, Schorge, S, Petrou, S, Mantegazza, M, Sander, T, LeGuern, E, Serratosa, JM, Koeleman, BPC, Palotie, A, Lehesjoki, A-E, Nothnagel, M, Nürnberg, P, Maljevic, S, Zara, F, Cossette, P, Krause, R, Lerche, H, Epicure Consortium, EuroEPINOMICS CoGIE Consortium, EpiPGX Consortium

المصدر: Lancet Neurology , 17 (8) pp. 699-708. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10053426/1/LancetNeurology.revision.final.pdf; https://discovery.ucl.ac.uk/id/eprint/10053426/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10053426/1/LancetNeurology.revision.final.pdf
https://discovery.ucl.ac.uk/id/eprint/10053426/

المؤلفون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, HS, Craiu, DC, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, KM, Komarek, V, LeGuern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, SM, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, YG, Koeleman, BPC.

المساهمون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, Dc, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, Km, Komarek, V, Leguern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, Jm, Sisodiya, Sm, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, Yg, Koeleman, Bpc.

مصطلحات موضوعية: De novo, HNRNPU, X‐linked, epileptic encephalopathy, loss‐of‐function, prioritization, recessive, targeted panel sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27652284; info:eu-repo/semantics/altIdentifier/wos/WOS:000394450500010; volume:4; firstpage:568; lastpage:580; numberofpages:13; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11567/854821; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85015718168

الاتاحة: http://hdl.handle.net/11567/854821
https://doi.org/10.1002/mgg3.235

المؤلفون: Allen, AS, Berkovic, SF, Bridgers, J, Cossette, P, Dlugos, D, Epstein, MP, Glauser, T, Goldstein, DB, Heinzen, EL, Jiang, Y, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Petrou, S, Petrovski, S, Poduri, A, Ren, Z, Scheffer, IE, Sherr, E, Wang, Q, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Helbig, I, Hjalgrim, H, Hoffman-Zacharska, D, Jaehn, J, Klein, KM, Koeleman, B, Komarek, V, Krause, R, Leguern, E, Lehesjoki, A-E, Lemke, JR, Lerche, H, Linnankivi, T, Marini, C, May, P, Moller, RS, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, S, Stephani, U, Sterbova, K, Striano, P, Suls, A, Talvik, T, von Spiczak, S, Weber, Y, Weckhuysen, S, Zara, F, Abou-Khalil, B, Alldredge, BK, Amrom, D, Andermann, E, Andermann, F, Bautista, JF, Bluvstein, J, Cascino, GD, Consalvo, D, Crumrine, P, Devinsky, O, Fiol, ME, Fountain, NB, French, J, Friedman, D, Haas, K, Haut, SR, Hayward, J, Joshi, S, Kanner, A, Kirsch, HE, Kossoff, EH, Kuperman, R, McGuire, SM, Motika, PV, Novotny, EJ, Paolicchi, JM, Parent, J, Park, K, Shellhaas, RA, Sirven, J, Smith, MC, Sullivan, J, Thio, LL, Venkat, A, Vining, EPG, Von Allmen, GK, Weisenberg, JL, Widdess-Walsh, P, Winawer, MR

المصدر: European Journal of Human Genetics , 25 (7) pp. 894-899. (2017)

مصطلحات موضوعية: Epilepsy, Risk factors

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10082842/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10082842/1/Sisodiya_Application%20of%20rare%20variant%20transmission%20disequilibrium%20tests%20to%20epileptic%20encephalopathy%20trio%20sequence%20data_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10082842/

المؤلفون: Koko, M, Motelow, JE, Stanley, KE, Bobbili, DR, Dhindsa, RS, May, P, Alldredge, BK, Allen, AS, Altmüller, J, Amrom, D, Andermann, E, Auce, P, Avbersek, A, Baulac, S, Bautista, JF, Becker, F, Bellows, Susannah, Berghuis, B, Berkovic, SF, Bluvstein, J, Boro, A, Bridgers, J, Burgess, R, Caglayan, H, Cascino, GD, Cavalleri, GL, Chung, SK, Cieuta-Walti, C, Cloutier, V, Consalvo, D, Cossette, P, Crumrine, P, Delanty, N, Depondt, C, Desbiens, R, Devinsky, O, Dlugos, D, Epstein, MP, Everett, K, Fiol, M, Fountain, NB, Francis, B, French, J, Freyer, C, Friedman, D, Gambardella, A, Geller, EB, Girard, S, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Haut, SR, Heinzen, EL, Helbig, I, Hildebrand, MS, Johnson, MR, Jorgensen, A, Joshi, S, Kanner, A, Kirsch, HE, Klein, KM, Knowlton, RC, Koeleman, BPC, Kossoff, EH, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Langley, SR, LeGuern, E, Lehesjoki, AE, Lerche, H, Leu, C, Lortie, A, Lowenstein, DH, Marson, AG, Mebane, C, Mefford, HC, Meloche, C, Moreau, C, Motika, PV, Muhle, H, Møller, RS, Nabbout, R, Nguyen, DK, Nikanorova, M, Novotny, EJ, Nürnberg, P, Ottman, R, O’Brien, TJ, Paolicchi, JM, Parent, JM, Park, K, Peter, S, Petrou, S, Petrovski, S, Pickrell, WO, Poduri, A

مصطلحات الفهرس: familial epilepsy, GABAA receptors, GABRG2, GGE, sporadic epilepsy, Journal Article

URL: http://hdl.handle.net/10536/DRO/DU:30162056
http://doi.org/10.1111/epi.17166
http://elements.deakin.edu.au/viewobject.html?id=293082&cid=1
issn: 0013-9580
issn: 1528-1167
http://doi.org/10.1111/epi.17166
http://elements.deakin.edu.au/viewobject.html?id=293082&cid=1
Epilepsia

المؤلفون: Djemie, T, Weckhuysen, S, von Spiczak, S, Carvill, GL, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, HS, de Kovel, CG, Depienne, C, Gaily, E, Hamalainen, E, Giraldez, BG, Gormley, P, Guerrero-Lopez, R, Guerrini, R, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, BPC, Leguern, E, Lehesjoki, A-E, Lemke, JR, Leu, C, Marini, C, McMahon, JM, Mei, D, Moller, RS, Muhle, H, Myers, CT, Nava, C, Serratosa, JM, Sisodiya, SM, Stephani, U, Striano, P, van Kempen, MJA, Verbeek, NE, Usluer, S, Zara, F, Palotie, A, Mefford, HC, Scheffer, IE, De Jonghe, P, Helbig, I, Suls, A

Relation: pii: MGG3217; Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. -K., Brilstra, E., Caglayan, H. S., de Kovel, C. G., Depienne, C., Gaily, E., Hamalainen, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, C., Hernandez-Hernandez, L. ,. Suls, A. (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. MOLECULAR GENETICS & GENOMIC MEDICINE, 4 (4), pp.457-464. https://doi.org/10.1002/mgg3.217.; http://hdl.handle.net/11343/260070

الاتاحة: http://hdl.handle.net/11343/260070

المؤلفون: de Kovel, CGF, Brilstra, EH, Van Kempen, MJA, Van‘t Slot, R, Nijman, IJ, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, AEE, Lemke, JR, Marini, C, Mei, D, Møller, RS, Pendziwiat, M, Stamberger, H, Suls, A, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, HS, Craiu, DC, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, KM, Komarek, V, LeGuern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, SM, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, YG, Koeleman, BPC

المصدر: Molecular Genetics and Genomic Medicine , 4 (5) pp. 568-580. (2016)

مصطلحات موضوعية: De novo, epileptic encephalopathy, HNRNPU, loss-of-function, prioritization, recessive, targeted panel sequencing, X-linked

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10073798/1/Kovel_et_al-2016-Molecular_Genetics_%26_Genomic_Medicine.pdf; https://discovery.ucl.ac.uk/id/eprint/10073798/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10073798/1/Kovel_et_al-2016-Molecular_Genetics_%26_Genomic_Medicine.pdf
https://discovery.ucl.ac.uk/id/eprint/10073798/

المؤلفون: Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G., Jaehn, J., Anttonen, A., Brilstra, E., Caglayan, H., De Kovel, C., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H., Koeleman, B., Leguern, E., Lehesjoki, A., Lemke, J., Leu, C., Marini, C., McMahon, J., Mei, D., Moller, R., Muhle, H., Myers, C., Nava, C., Serratosa, J., Sisodiya, S., Stephani, U., Striano, P., van Kempen, M., Verbeek, N., Usluer, S., Zara, F., Palotie, A., Mefford, H., Scheffer, I., De Jonghe, P., Helbig, I., Suls, A.

المصدر: Molecular Genetics & Genomic Medicine

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-002B-9C5F-4; http://hdl.handle.net/11858/00-001M-0000-002B-9C61-D

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002B-9C5F-4
http://hdl.handle.net/11858/00-001M-0000-002B-9C61-D

المؤلفون: STEVANIN G, SANTORELLI FM, AZZEDINE H, COUTINHO P, CHOMILIER J, DENORA PS, MARTIN E, OUVRARD HERNANDEZ AM, TESSA A, BOUSLAM N, LOSSOS A, CHARLES P, LOUREIRO, JL, ELLEUCH N, CONFAVREUX C, CRUZ VT, RUBERG M, LEGUERN E, GRID D, TAZIR M, FONTAINE B, BERTINI E, DURR A, BRICE A., FILLA, ALESSANDRO

المساهمون: Stevanin, G, Santorelli, Fm, Azzedine, H, Coutinho, P, Chomilier, J, Denora, P, Martin, E, OUVRARD HERNANDEZ, Am, Tessa, A, Bouslam, N, Lossos, A, Charles, P, Loureiro, Jl, Elleuch, N, Confavreux, C, Cruz, Vt, Ruberg, M, Leguern, E, Grid, D, Tazir, M, Fontaine, B, Filla, Alessandro, Bertini, E, Durr, A, Brice, A.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000244480000019; volume:39; firstpage:366; lastpage:372; numberofpages:7; journal:NATURE GENETICS; http://hdl.handle.net/11588/143376; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33847298447

الاتاحة: http://hdl.handle.net/11588/143376