المؤلفون: Bayat, A, Kløvgaard, M, Johannesen, KM, Barakat, Stefan, Kievit, Anneke, Montomoli, M, Parrini, E, Pietrafusa, N, Schelhaas, J, van Slegtenhorst, Marjon, Miya, K, Guerrini, R, Tranebjærg, L, Tümer, Z, Rubboli, G, Møller, RS

المصدر: Bayat , A , Kløvgaard , M , Johannesen , KM , Barakat , S , Kievit , A , Montomoli , M , Parrini , E , Pietrafusa , N , Schelhaas , J , van Slegtenhorst , M , Miya , K , Guerrini , R , Tranebjærg , L , Tümer , Z , Rubboli , G & Møller , RS 2021 , ' Deciphering the premature mortality in PIGA-CDG – An untold story ' , Epilepsy Research , vol. 170 , 106530 . https://doi.org/10.1016/j.eplepsyres.2020.106530Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://pure.eur.nl/en/publications/687ae827-746d-489d-849b-2a75a89aecffTest

الإتاحة: https://doi.org/10.1016/j.eplepsyres.2020.106530Test
https://pure.eur.nl/en/publications/687ae827-746d-489d-849b-2a75a89aecffTest
http://www.scopus.com/inward/record.url?scp=85099969537&partnerID=8YFLogxKTest
https://findresearcher.sdu.dk/ws/files/181483403/PIGA.pdfTest

المؤلفون: Johannesen K. M., Gardella E., Gjerulfsen C. E., Bayat A., Rouhl R. P. W., Reijnders M., Whalen S., Keren B., Buratti J., Courtin T., Wierenga K. J., Isidor B., Piton A., Faivre L., Garde A., Moutton S., Tran-Mau-Them F., Denomme-Pichon A. -S., Coubes C., Larson A., Esser M. J., Appendino J. P., Al-Hertani W., Gamboni B., Mampel A., Mayorga L., Orsini A., Bonuccelli A., Suppiej A., Van-Gils J., Vogt J., Damioli S., Giordano L., Moortgat S., Wirrell E., Hicks S., Kini U., Noble N., Stewart H., Asakar S., Cohen J. S., Naidu S. R., Collier A., Brilstra E. H., Li M. H., Brew C., Bigoni S., Ognibene D., Ballardini E., Ruivenkamp C., Faggioli R., Afenjar A., Rodriguez D., Bick D., Segal D., Coman D., Gunning B., Devinsky O., Demmer L. A., Grebe T., Pruna D., Cursio I., Greenhalgh L., Graziano C., Singh R. R., Cantalupo G., Willems M., Yoganathan S., Goes F., Leventer R. J., Colavito D., Olivotto S., Scelsa B., Andrade A. V., Ratke K., Tokarz F., Khan A. S., Ormieres C., Benko W., Keough K., Keros S., Hussain S., Franques A., Varsalone F., Gronborg S., Mignot C., Heron D., Nava C., Isapof A., Borlot F., Whitney R., Ronan A., Foulds N., Somorai M., Brandsema J., Helbig K. L., Helbig I., Ortiz-Gonzalez X. R., Dubbs H., Vitobello A., Anderson M., Spadafore D., Hunt D., Moller R. S., Rubboli G.

المساهمون: Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denomme-Pichon, A. -S., Coubes, C., Larson, A., Esser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Goes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Gronborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-Gonzalez, X. R., Dubbs, H., Vitobello, A.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34790866; info:eu-repo/semantics/altIdentifier/wos/WOS:000728252200016; volume:7; issue:6; firstpage:e613-1; lastpage:e613-14; numberofpages:14; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11392/2475339Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121913018; https://ng.neurology.org/content/7/6/e613Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000613Test
https://hdl.handle.net/11392/2475339Test
https://ng.neurology.org/content/7/6/e613Test

المؤلفون: Johannesen, KM, Gardella, E, Gjerulfsen, CE, Bayat, A, Rouhl, RPW, Reijnders, M, Whalen, S, Keren, B, Buratti, J, Courtin, T, Wierenga, KJ, Isidor, B, Piton, A, Faivre, L, Garde, A, Moutton, S, Tran-Mau-Them, F, Denomme-Pichon, A-S, Coubes, C, Larson, A, Esser, MJ, Appendino, JP, Al-Hertani, W, Gamboni, B, Mampel, A, Mayorga, L, Orsini, A, Bonuccelli, A, Suppiej, A, Van-Gils, J, Vogt, J, Damioli, S, Giordano, L, Moortgat, S, Wirrell, E, Hicks, S, Kini, U, Noble, N, Stewart, H, Asakar, S, Cohen, JS, Naidu, SR, Collier, A, Brilstra, EH, Li, MH, Brew, C, Bigoni, S, Ognibene, D, Ballardini, E, Ruivenkamp, C, Faggioli, R, Afenjar, A, Rodriguez, D, Bick, D, Segal, D, Coman, D, Gunning, B, Devinsky, O, Demmer, LA, Grebe, T, Pruna, D, Cursio, I, Greenhalgh, L, Graziano, C, Singh, RR, Cantalupo, G, Willems, M, Yoganathan, S, Goes, F, Leventer, RJ, Colavito, D, Olivotto, S, Scelsa, B, Andrade, AV, Ratke, K, Tokarz, F, Khan, AS, Ormieres, C, Benko, W, Keough, K, Keros, S, Hussain, S, Franques, A, Varsalone, F, Gronborg, S, Mignot, C, Heron, D, Nava, C, Isapof, A, Borlot, F, Whitney, R, Ronan, A, Foulds, N, Somorai, M, Brandsema, J, Helbig, KL, Helbig, I, Ortiz-Gonzalez, XR, Dubbs, H, Vitobello, A, Anderson, M, Spadafore, D, Hunt, D, Moller, RS, Rubboli, G

العلاقة: pii: NG2020016527; Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denomme-Pichon, A. -S., Coubes, C. ,. Rubboli, G. (2021). PURA-Related Developmental and Epileptic Encephalopathy. NEUROLOGY-GENETICS, 7 (6), https://doi.org/10.1212/NXG.0000000000000613Test.; http://hdl.handle.net/11343/305478Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000613Test
http://hdl.handle.net/11343/305478Test

المؤلفون: Hedrich, UBS, Lauxmann, S, Wolff, M, Synofzik, M, Bast, T, Binelli, A, Serratosa, JM, Martinez-Ulloa, P, Allen, NM, King, MD, Gorman, KM, Ben Zeev, B, Tzadok, M, Wong-Kisiel, L, Marjanovic, D, Rubboli, G, Sisodiya, SM, Lutz, F, Ashraf, HP, Torge, K, Yan, P, Bosselmann, C, Schwarz, N, Fudali, M, Lerche, H

المصدر: Science Translational Medicine , 13 (609) , Article eaaz4957. (2021)

وصف الملف: text; image

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10137729/19/Sisodiya_aaz4957_ArticleContent_MM-HL-UH-SL-Final.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137729/4/Fig_1.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/9/Fig_2.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/14/Fig_3.pngTest; https://discovery.ucl.ac.uk/id/eprint/10137729/24/Sisodiya_aaz4957_SupplementalMaterial_MM_UH-HL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10137729Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10137729/19/Sisodiya_aaz4957_ArticleContent_MM-HL-UH-SL-Final.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137729/4/Fig_1.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/9/Fig_2.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/14/Fig_3.pngTest
https://discovery.ucl.ac.uk/id/eprint/10137729/24/Sisodiya_aaz4957_SupplementalMaterial_MM_UH-HL.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10137729Test/

المؤلفون: Cioclu M. C., Mosca I., Ambrosino P., Puzo D., Bayat A., Wortmann S. B., Koch J., Strehlow V., Shirai K., Matsumoto N., Sanders S. J., Michaud V., Legendre M., Riva A., Striano P., Muhle H., Pendziwiat M., Lesca G., Mangano G. D., Nardello R., Servettini I., Belperio G., Kamsteeg E. -J., Takahashi K., Mitsuhashi S., Palmer E. E., Bye A. M., Madrigal I., Alvarez-Mora M. I., Sanchez A., Meletti S., Helbig I., Le Tanno P., Gerard B., El Chehadeh S., Lemke J. R., Moller R. S., Soldovieri M. V., Rubboli G., Taglialatela M.

المساهمون: Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D., Nardello, R., Servettini, I., Belperio, G., Kamsteeg, E. -J., Takahashi, K., Mitsuhashi, S., Palmer, E. E., Bye, A. M., Madrigal, I., Alvarez-Mora, M. I., Sanchez, A., Meletti, S., Helbig, I., Le Tanno, P., Gerard, B., El Chehadeh, S., Lemke, J. R., Moller, R. S., Soldovieri, M. V., Rubboli, G., Taglialatela, M.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37062836; info:eu-repo/semantics/altIdentifier/wos/WOS:000996473600001; volume:94; issue:2; firstpage:332; lastpage:349; journal:ANNALS OF NEUROLOGY; https://hdl.handle.net/11380/1319910Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159889445

الإتاحة: https://doi.org/10.1002/ana.26662Test
https://hdl.handle.net/11380/1319910Test

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

الإتاحة: https://doi.org/10.1002/acn3.708Test
http://hdl.handle.net/11380/1206119Test

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

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

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

المؤلفون: Gesche, J., Christensen, J., Hjalgrim, H., Rubboli, G., Beier, C. P.

المصدر: Gesche , J , Christensen , J , Hjalgrim , H , Rubboli , G & Beier , C P 2020 , ' Epidemiology and outcome of idiopathic generalized epilepsy in adults ' , European Journal of Neurology , vol. 27 , no. 4 , pp. 676-684 . https://doi.org/10.1111/ene.14142Test

مصطلحات موضوعية: burden of disease, drug resistance, epidemiology, idiopathic, genetic generalized epilepsy, incidence, outcome, prevalence, JUVENILE MYOCLONIC EPILEPSY, ILAE COMMISSION, CLASSIFICATION, RESISTANCE, CONSENSUS, JME

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1111/ene.14142Test
https://curis.ku.dk/portal/da/publications/epidemiology-and-outcome-of-idiopathic-generalized-epilepsy-in-adultsTest(c6e37baa-aee1-4421-9d19-f289a8e5e855).html
https://curis.ku.dk/ws/files/290039526/Epidemiology_and_outcome_of_idiopathic_generalized_epilepsy_in_adults_accepted_version_.pdfTest

المؤلفون: Nobili, L., de Weerd, A., Rubboli, G., Beniczky, S., Derry, C., Eriksson, S., Halasz, P., Högl, B., Santamaria, J., Khatami, R., Ryvlin, P., Rémi, J., Tinuper, P., Bassetti, C., Manni, R., Koutroumanidis, M., Vignatelli, L.

المصدر: European Journal of Neurology ; volume 28, issue 1, page 15-32 ; ISSN 1351-5101 1468-1331

الإتاحة: https://doi.org/10.1111/ene.14468Test

المؤلفون: Rossi, A, Snijders Blok, L., Neuser, S., Klöckner, C., Platzer, K., Faivre, L.O., Weigand, H., Dentici, M.L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, Lacey, Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M., Lauridsen, M.F., Murch, O., Irving, R., Lynch, S.A., Mehta, S.G., Carmichael, J., Zonneveld-Huijssoon, E., Vries, B.B. de, Kleefstra, T., Johannesen, K.M., Westphall, I.T., Hughes, S.S., Smithson, S., Evans, J., Dudding-Byth, T., Simon, M., Binsbergen, E. van, Herkert, J.C., Beunders, G., Oppermann, H., Bakal, M., Møller, R.S., Rubboli, G., Bayat, A.

المصدر: Clinical Genetics, 104, 2, pp. 186-197

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/297008Test

الإتاحة: https://doi.org/10.1111/cge.14353Test
https://repository.ubn.ru.nl/handle/2066/297008Test