학술논문
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'학술논문'
에서 검색결과 338건 | 목록
1~20
Academic Journal
Parkinsonism and Related Disorders. 134
Academic Journal
Paprocka, Justyna ; Steinborn, Barbara ; Krygier, Magdalena ; Winczewska-Wiktor, Anna ; Przyslo, Lukasz ; Hutny, Michał ; Hoffman-Zacharska, Dorota ; Mazurkiewicz, Hanna ; Kochanowska, Iwona ; Zebrowska, Joanna ; Zawadzka, Marta ; Piasecki, Leszek ; Mazurkiewicz-Beldzinska, Maria
In Seizure: European Journal of Epilepsy August 2024 120:201-209
Academic Journal
European Journal of Neurology. 32(suppl. S1):158-159
Academic Journal
Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D , Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D , Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman -Zacharska , D , Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D , Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D , Lederer, D , Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, CD , Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D , Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman -Zacharska , D , Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D , Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D , Lederer, D , Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, CD , Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D , Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman -Zacharska , D , Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D , Lederer, D , Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, CD , Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D , Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman -Zacharska , D , Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D , Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D , Lederer, D , Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C
Academic Journal
Hanna Al-Shaikh, Rana ; Milanowski, Lukasz M. ; Holla, Vikram V. ; Kurihara, Kanako ; Yadav, Ravi ; Kamble, Nitish ; Muthusamy, Babylakshmi ; Bellad, Anikha ; Koziorowski, Dariusz ; Szlufik, Stanislaw ; Hoffman-Zacharska, Dorota ; Fujioka, Shinsuke ; Tsuboi, Yoshio ; Ross, Owen A. ; Wierenga, Klaas ; Uitti, Ryan J. ; Wszolek, Zbigniew ; Pal, Pramod Kumar
In Parkinsonism and Related Disorders August 2022 101:66-74
Academic Journal
Milanowski, L.; Hanna AL-Shaikh, R.; Holla, V.; Kurihara, K.; Yadav, R.; Kamble, N.; Muthusamy, B.; Koziorowski, D.; Szlufik, S.; Hoffman-Zacharska, D.; Fujioka, S.; Ross, O.A.; Wierenga, K.; Wszolek, Z.K.; Pal, P.K.
Parkinsonism and Related Disorders. 113
Academic Journal
Bayat, A; Knaus, A; Juul, A; Dukic, D; Gardella, E; Charzewska, A; Clement, E; Hjalgrim, H; Hoffman-Zacharska, D; Horn, D; Horton, R; Hurst, J; Josifova, D; Larsen, L; Lascelles, K; Obersztyn, E; Pagnamenta, A; Pal, D; Pendziwiat, M; Ryten, M; Taylor, J; Vogt, J; Weber, Y; Krawitz, P; Helbig, I; Kini, U; Møller, R; Group, Ddd Study
Bayat, A, Knaus, A, Juul, A W, Dukic, D , Gardella, E, Charzewska, A, Clement, E, Hjalgrim, H, Hoffman -Zacharska , D , Horn, D , Horton, R, Hurst, J A, Josifova, D , Larsen, L H G, Lascelles, K, Obersztyn, E, Pagnamenta, A, Pal, D K, Pendziwiat, M, Ryten, M, Taylor, J, Vogt, J, Weber, Y, Krawitz, P M, Helbig, I, Kini, U, Møller, R S & the DDD Study Group 2019, ' PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor : description of 13 novel patients and expansion of the clinical characteristics ', Genetics in Medicine, vol. 21, no. 10, pp. 2216-2223 . https://doi.org/10.1038/s41436-019-0512-3
Academic Journal
Winczewska-Wiktor, Anna ; Hoffman-Zacharska, Dorota ; Starczewska, Monika ; Kaczmarek, Izabela ; Badura-Stronka, Magdalena ; Steinborn, Barbara
In Epilepsy & Behavior May 2020 106
Academic Journal
Coppola A1; 2 3; Cellini E4; Stamberger H5; 6 7; Saarentaus E8; 9 10; Cetica V4; Lal D10; 11 12; Djémié T5; 6; Bartnik-Glaska M13; Ceulemans B14; Cross JH15; 16 17; Deconinck T5; De Masi S7; Dorn T18; Guerrini R; Hoffman-Zacharska D14; Kooy F19; Lagae L20; Lench N21; Lemke JR22; Lucenteforte E23; Madia F25; Mefford HC26; Morrogh D21; Nuernberg P27; Palotie A11; Schoonjans AS15; Striano P28; Szczepanik E29; Tostevin A1; 2; Vermeesch JR30; Van Esch H30; Van Paesschen W31; Waters JJ21; Weckhuysen S5; 6 12; Zara F25; De Jonghe P5; Sisodiya SM1; Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium. Lehesjioki AE; Craiu D; Talvik T; Caglayan H; Serratosa J; Sterbova K; Møller RS; Hjalgrim H; Lerche H; Weber Y; Helbig I; von Spiczak S; Barba C; Bogaerts A; Boni A; Galizia EC; Chiari S; Di Gacomo G; Ferrari A; Garducci S; Giglio S; Holmgren P; Leu C; Melani F; Novara F; Pantaleo M; Peeters E; Pisano T; Rosati A; Sander J; Schoeler N; Stankiewicz P; Striano S; Suls A; Traverso M; Vandeweyer G; Van Dijck A; Zuffardi O.
Epilepsia
Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal,D , Djemie, T, Bartnik-Glaska, M, Ceulemans, B, Cross, J H, Deconinck, T, De Masi, S, Dorn, T, Guerrini, R, Hoffman -Zacharska , D , Kooy, F, Lagae, L, Lench, N, Lemke, J R, Lucenteforte, E, Madia, F, Mefford, H C, Morrogh, D , Nuernberg, P, Palotie, A, Schoonjans, A-S, Striano, P, Szczepanik, E, Tostevin, A, Vermeesch, J R, Van Esch, H, Van Paesschen, W, Waters, J J, Weckhuysen, S, Zara, F, Jonghe, P D , Sisodiya, S M, Marini, C, EuroEPINOMICS RES Consortium, Moller, R S & Hjalgrim, H 2019, ' Diagnostic implications of genetic copy number variation in epilepsy plus ', Epilepsia, vol. 60, no. 4, pp. 689-706 . https://doi.org/10.1111/epi.14683
Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal,
Academic Journal
Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin; Hümpfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Štěrbová, Katalin; Hammer, Trine Bjørg; Møller, Rikke; Shinde, Deepali; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine; Haucke, Volker; Weber, Yvonne; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; de Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, Sek Won; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter; Jonghe, Peter De; Lemke, Johannes R.; Pal, Deb K.; Serratosa, Jose M.; Spiczak, Sarah Von; Mandl, Kenneth D.
Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D , De Jonghe, P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman -Zacharska , D , Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001
American Journal of Human Genetics, vol 104, iss 6
American Journal of Human Genetics, vol 104, iss 6
Academic Journal
Katrine M. Johannesen; Elena Gardella; Alejandra C. Encinas; Anna‐Elina Lehesjoki; Tarja Linnankivi; Michael B. Petersen; Ida Charlotte Bay Lund; Susanne Blichfeldt; Maria J. Miranda; Deb K. Pal; Karine Lascelles; Peter Procopis; Alessandro Orsini; Alice Bonuccelli; Thea Giacomini; Ingo Helbig; Christina D. Fenger; Sanjay M. Sisodiya; Laura Hernandez‐Hernandez; Sundararaman Krithika; Melissa Rumple; Silvia Masnada; Marialuisa Valente; Cristina Cereda; Lucio Giordano; Patrizia Accorsi; Sarah E. Bürki; Margherita Mancardi; Christian Korff; Renzo Guerrini; Sarah von Spiczak; Dorota Hoffman‐Zacharska; Tomasz Mazurczak; Antonietta Coppola; Salvatore Buono; Marilena Vecchi; Michael F. Hammer; Costanza Varesio; Pierangelo Veggiotti; Dennis Lal; Tobias Brünger; Federico Zara; Pasquale Striano; Guido Rubboli; Rikke S. Møller
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D , Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman -Zacharska , D , Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D , Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, 'The spectrum of intermediate SCN8A-related epilepsy', Epilepsia, vol. 60, no. 5, pp. 830-844. https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal,D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D , Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman -Zacharska , D , Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D , Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal,
Academic Journal
A. Charzewska; R. Maiwald; K. Kahrizi; B. Oehl‐Jaschkowitz; A. Dufke; J.R. Lemke; H. Enders; H. Najmabadi; A. Tzschach; W. Hachmann; C. Jensen; M. Bienek; J. Poznański; M. Nawara; T. Chilarska; E. Obersztyn; D. Hoffman‐Zacharska; M. Gos; J. Bal; V.M. Kalscheuer
Clinical Genetics: an international journal of genetics in medicine
Academic Journal
Dulski, Jarosław ; Pant, Devesh C. ; Hoffman-Zacharska, Dorota ; Kwaśniak-Butowska, Magdalena ; Wszolek, Zbigniew K. ; Sławek, Jarosław
In Parkinsonism and Related Disorders June 2025 135
Academic Journal
Paprocka, J.; Kalinowska-Doman, A.; Krygier, M.; Steinborn, B.; Winczewska-Wiktor, A.; Stawicka, E.; Przyslo, L.; Hoffman-Zacharska, D.; Mazurkiewicz, H.; Fabin-Czepiel, K.; Płoski, R.; Bachanski, M.; Mazurkiewicz-Beldzinska, M.
Epilepsia. 65(suppl.1):404 poz.997
Academic Journal
Heyne H. O.; Singh T.; Stamberger H.; Abou Jamra R.; Caglayan H.; Craiu D.; De Jonghe P.; Guerrini R.; Helbig K. L.; Koeleman B. P. C.; Kosmicki J. A.; Linnankivi T.; May P.; Muhle H.; Moller R. S.; Neubauer B. A.; Palotie A.; Pendziwiat M.; Striano P.; Tang S.; Wu S.; Afawi Z.; De Kovel C.; Dimova P.; Djemie T.; Endziniene M.; Hoffman-Zacharska D.; Jahn J.; Korff C.; Lehesjoki A. -E.; Marini C.; Muller S. H.; Pal D.; Schwarz N.; Selmer K.; Serratosa J.; Stephani U.; Sterbova K.; Suls A.; Nishizaki S.; Talvik I.; Von Spiczak S.; Zara F.; Poduri A.; Weber Y. G.; Weckhuysen S.; Sisodiya S. M.; Daly M. J.; Helbig I.; Lal D.; Lemke J. R.
Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053
Nature Genetics
bioRxiv. Cold Spring Harbor Labs Journals (2017).
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu,D , De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel, C, Dimova, P, Djémié, T, Endziniene, M, Hoffman -Zacharska , D , Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D , Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M, Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7
Nature Genetics
bioRxiv. Cold Spring Harbor Labs Journals (2017).
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu,
Academic Journal
Allen, Andrew S; Berkovic, Samuel F; Bridgers, Joshua; Cossette, Patrick; Dlugos, Dennis; Epstein, Michael P; Glauser, Tracy; Goldstein, David B; Heinzen, Erin L; Jiang, Yu; Johnson, Michael R; Kuzniecky, Ruben; Lowenstein, Daniel H; Marson, Anthony G; Mefford, Heather C; O'Brien, Terence J; Ottman, Ruth; Petrou, Steven; Petrovski, Slave; Poduri, Annapurna; Ren, Zhong; Scheffer, Ingrid E; Sherr, Elliott; Wang, Quanli; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jaehn, Johanna; Klein, Karl Martin; Koeleman, Bobby; Komarek, Vladimir; Krause, Roland; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Moller, Rikke S; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Rosenow, Felix; Selmer, Kaja; Serratosa, Jose M; Sisodiya, Sanjay; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weber, Yvonne; Weckhuysen, Sarah; Zara, Federico; Abou-Khalil, Bassel; Alldredge, Brian K; Amrom, Dina; Andermann, Eva; Andermann, Frederick; Bautista, Jocelyn F; Bluvstein, Judith; Cascino, Gregory D; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Fiol, Miguel E; Fountain, Nathan B; French, Jacqueline; Friedman, Daniel; Haas, Kevin; Haut, Sheryl R; Hayward, Jean; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E; Kossoff, Eric H; Kuperman, Rachel; McGuire, Shannon M; Motika, Paul V; Novotny, Edward J; Paolicchi, Juliann M; Parent, Jack; Park, Kristen; Shellhaas, Renee A; Sirven, Joseph; Smith, Michael C; Sullivan, Joseph; Thio, Liu Lin; Venkat, Anu; Vining, Eileen PG; Von Allmen, Gretchen K; Weisenberg, Judith L; Widdess-Walsh, Peter; Winawer, Melodie R; Consortium, Epi4K; Consortium, EuroEPINOMICS-RES; Project, Epilepsy Phenome Genome
EUROPEAN JOURNAL OF HUMAN GENETICS
European journal of human genetics
Hjalgrim, H, Møller, R S, Epi4K Consortium, EuroEPINOMICS RES Consortium & Epilepsy Phenome Genome Project 2017, ' Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data ', European Journal of Human Genetics, vol. 25, no. 7, pp. 894-899 . https://doi.org/10.1038/ejhg.2017.61
European journal of human genetics : EJHG, vol 25, iss 7
European journal of human genetics
Hjalgrim, H, Møller, R S, Epi4K Consortium, EuroEPINOMICS RES Consortium & Epilepsy Phenome Genome Project 2017, ' Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data ', European Journal of Human Genetics, vol. 25, no. 7, pp. 894-899 . https://doi.org/10.1038/ejhg.2017.61
European journal of human genetics : EJHG, vol 25, iss 7
Academic Journal
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.
Mol Genet Genomic Med
EuroEPINOMICS RES Consortium 2016, 'Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580. https://doi.org/10.1002/mgg3.235
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine
de Kovel, C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei,D , Møller, R S, Pendziwiat, M, Stamberger, H, Suls, A, Weckhuysen, S, Koeleman, B P C & EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
EuroEPINOMICS RES Consortium 2016, 'Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580. https://doi.org/10.1002/mgg3.235
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine
de Kovel, C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei,
Academic Journal
Katrine M Johannesen; Yuanyuan Liu; Cathrine E Gjerulfsen; Mahmoud Koko; Lukas Sonnenberg; Julian Schubert; Christina D Fenger; Ahmed Eltokhi; Maert Rannap; Nils A. Koch; Stephan Lauxmann; Johanna Krüger; Josua Kegele; Laura Canafoglia; Silvana Franceschetti; Thomas Mayer; Johannes Rebstock; Pia Zacher; Susanne Ruf; Michael Alber; Katalin Sterbova; Petra Lassuthová; Marketa Vlckova; Johannes R Lemke; Ilona Krey; Constanze Heine; Dagmar Wieczorek; Judith Kroell-Seger; Caroline Lund; Karl Martin Klein; PY Billie Au; Jong M Rho; Alice W Ho; Silvia Masnada; Pierangelo Veggiotti; Lucio Giordano; Patrizia Accorsi; Christina E Hoei-Hansen; Pasquale Striano; Federico Zara; Helene Verhelst; Judith S.Verhoeven; Bert van der Zwaag; Aster V. E. Harder; Eva Brilstra; Manuela Pendziwiat; Sebastian Lebon; Maria Vaccarezza; Ngoc Minh Le; Jakob Christensen; Mette U Schmidt-Petersen; Sabine Grønborg; Stephen W Scherer; Jennifer Howe; Walid Fazeli; Katherine B Howell; Richard Leventer; Chloe Stutterd; Sonja Walsh; Marion Gerard; Bénédicte Gerard; Sara Matricardi; Claudia M Bonardi; Stefano Sartori; Andrea Berger; Dorota Hoffman-Zacharska; Massimo Mastrangelo; Francesca Darra; Arve Vøllo; M Mahdi Motazacker; Phillis Lakeman; Mathilde Nizon; Cornelia Betzler; Cecilia Altuzarra; Roseline Caume; Agathe Roubertie; Philippe Gélisse; Carla Marini; Renzo Guerrini; Frederic Bilan; Daniel Tibussek; Margarete Koch-Hogrebe; M Scott Perry; Shoji Ichikawa; Elena Dadali; Artem Sharkov; Irina Mishina; Mikhail Abramov; Ilya Kanivets; Sergey Korostelev; Sergey Kutsev; Karen E Wain; Nancy Eisenhauer; Monisa Wagner; Juliann M Savatt; Karen Müller-Schlüter; Haim Bassan; Artem Borovikov; Marie-Cecile Nassogne; Anne Destrée; An-Sofie Schoonjans; Marije Meuwissen; Marga Buzatu; Anna Jansen; Emmanuel Scalais; Siddharth Srivastava; Wen-Hann Tan; Heather E Olson; Tobias Loddenkemper; Annapurna Poduri; Katherine L Helbig; Ingo Helbig; Mark P Fitzgerald; Ethan M Goldberg; Timo Roser; Ingo Borggraefe; Tobias Brünger; Patrick May; Dennis Lal; Damien Lederer; Guido Rubboli; Gaetan Lesca; Ulrike BS Hedrich; Jan Benda; Elena Gardella; Holger Lerche; Rikke S Møller
Academic Journal
A, Charzewska; J, Wierzba; E, Iżycka-Świeszewska; M, Bekiesińska-Figatowska; M, Jurek; A, Gintowt; A, Kłosowska; J, Bal; D, Hoffman-Zacharska
Clinical Genetics. 90:293-304
Academic Journal
Syrbe, Steffen; Hedrich; Ulrike B. S.; Riesch, Erik; Djémié, Tania; Müller, Stephan; Møller; Rikke S.; Maher, Bridget; Hernandez Hernandez; Laura, Synofzik; Matthis, Caglayan; Hande S.; Arslan, Mutluay; Serratosa; José M.; Nothnagel, Michael; May, Patrick; Krause, Roland; Löffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Krämer, Günter; Schöls, Ludger; Mullis; Primus E.; Linnankivi, Tarja; Lehesjoki; Anna Elina; Sterbova, Katalin; Craiu; Dana C.; Hoffman Zacharska; Dorota, Korff; Christian M.; Weber; Yvonne G.; Steinlin, Maja; Gallati, Sabina; Bertsche, Astrid; Bernhard; Matthias K.; Merkenschlager, Andreas; Kiess, Wieland; Gonzalez, Michael; Züchner, Stephan; Palotie, Aarno; Suls, Arvid; De Jonghe; Peter, Helbig; Ingo, Biskup; Saskia, Wolff; Markus, Maljevic; Snezana, Schüle; Rebecca, Sisodiya; Sanjay M.; Weckhuysen, Sarah; Lerche, Holger; Lemke; Johannes R. Collaborators Balling R; Barisic N; Baulac S; Caglayan HS; Craiu DC; De Jonghe P; Depienne C; Gormley P; GUERRINI, RENZO; Helbig I; Hjalgrim H; Hoffman Zacharska D; Jähn J; Klein KM; Koeleman BP; Komarek V; Krause R; LeGuern E; Lehesjoki AE; Lemke JR; Lerche H; Marini C; May P; Møller RS; Muhle H; Palotie A; Pal D; Rosenow F; Selmer K; Serratosa JM; Sisodiya SM; Stephani U; Sterbova K; Striano P; Suls A; Talvik T; von Spiczak S; G. Weber Y; Weckhuysen S; Zara F. Balling R; Guerrini R; Zara F.
Nat Genet
Nature genetics 47(4), 393-399 (2015). doi:10.1038/ng.3239
Nature Genetics, Vol. 47, No 4 (2015) pp. 393-399
Syrbe, S, Hedrich, U B S, Riesch, E, Djémié, T, Müller, S, Møller, R S, Maher, B, Hernandez-Hernandez, L, Synofzik, M, Caglayan, H S, Arslan, M, Serratosa, J M, Nothnagel, M, May, P, Krause, R, Löffler, H, Detert, K, Dorn, T, Vogt, H, Krämer, G, Schöls, L, Mullis, P E, Linnankivi, T, Lehesjoki, A-E, Sterbova, K, Craiu,D C, Hoffman -Zacharska , D , Korff, C M, Weber, Y G, Steinlin, M, Gallati, S, Bertsche, A, Bernhard, M K, Merkenschlager, A, Kiess, W, Gonzalez, M, Züchner, S, Palotie, A, Suls, A, De Jonghe, P, Helbig, I, Biskup, S, Wolff, M, Maljevic, S, Schüle, R, Sisodiya, S M, Weckhuysen, S, Lerche, H, Lemke, J R & EuroEPINOMICS RES Consortium 2015, ' De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy ', Nature Genetics, vol. 47, no. 4, pp. 393–399 . https://doi.org/10.1038/ng.3239
Nature Genetics
Nature genetics 47(4), 393-399 (2015). doi:10.1038/ng.3239
Nature Genetics, Vol. 47, No 4 (2015) pp. 393-399
Syrbe, S, Hedrich, U B S, Riesch, E, Djémié, T, Müller, S, Møller, R S, Maher, B, Hernandez-Hernandez, L, Synofzik, M, Caglayan, H S, Arslan, M, Serratosa, J M, Nothnagel, M, May, P, Krause, R, Löffler, H, Detert, K, Dorn, T, Vogt, H, Krämer, G, Schöls, L, Mullis, P E, Linnankivi, T, Lehesjoki, A-E, Sterbova, K, Craiu,
Nature Genetics
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