학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
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- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
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불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
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- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
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'학술논문'
에서 검색결과 15건 | 목록
1~20
Academic Journal
Brichard, Bénédicte; Roux, Manon Le; de Terwangne, Brigitte; Bellis, Dominique; Crasselts, Nathalie; Nassogne, Marie Cécile; Hocq, Catheline
Academic Journal
Grünert, Sarah C. ; Gautschi, Matthias ; Baker, Joshua ; Boyer, Monica ; Burlina, Alberto ; Casswall, Thomas ; Corpeleijn, Willemijn ; Çıki, Kismet ; Cotter, Melanie ; Crushell, Ellen ; Derks, Terry G.J. ; Haas, Dorothea ; Kilavuz, Sebile ; Kingma, Sandra D.K. ; Korman, Stanley H. ; Kozek, Anne ; de Laet, Corinne ; Mundy, Helen ; Nassogne, Marie Cecile ; Quintero, Victor ; Rossi, Alessandro ; Spenger, Johannes ; Spiegel, Ronen ; Stephenne, Xavier ; Stojkov, Darko ; Tal, Galit ; Veiga-da Cunha, Maria ; Wortmann, Saskia B.
In Molecular Genetics and Metabolism June 2024 142(2)
Academic Journal
Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; McFarland, Robert; Fang, Fang; Morgia, Chiara La; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza
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, 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, 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, C D, 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, 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, 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 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, 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, C D, 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, 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, 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
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Lardelli, R.M.; Schaffer, A.E.; Eggens, V.R.C.; Zaki, M.S.; Grainger, S.; Sathe, S.; Nostrand, E.L. van; Schlachetzki, Z.; Rosti, B.; Akizu, N.; Scott, E.; Silhavy, J.L.; Heckman, L.D.; Rosti, R.O.; Dikoglu, E.; Gregor, A.; Guemez-Gamboa, A.; Musaev, D.; Mande, R.; Widjaja, A.; Shaw, T.L.; Markmiller, S.; Marin-Valencia, I.; Davies, J.H.; Meirleir, L. de; Kayserili, H.; Altunoglu, U.; Freckmann, M.L.; Warwick, L.; Chitayat, D.; Blaser, S.; Caglayan, A.O.; Bilguvar, K.; Per, H.; Fagerberg, C.; Christesen, H.T.; Kibaek, M.; Aldinger, K.A.; Manchester, D.; Matsumoto, N.; Muramatsu, K.; Saitsu, H.; Shiina, M.; Ogata, K.; Foulds, N.; Dobyns, W.B.; Chi, N.C.; Traver, D.; Spaccini, L.; Bova, S.M.; Gabrie, S.B.; Gunel, M.; Valente, E.M.; Nassogne, M.C.; Bennett, E.J.; Yeo, G.W.; Baas, F.; Lykke-Andersen, J.; Gleeson, J.G.
Nat Genet
Nature Genetics, Vol. 49, no. 3, p. 457-464 (2017)
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762
Nature Genetics, vol 49, iss 3
Nature Genetics, Vol. 49, no. 3, p. 457-464 (2017)
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762
Nature Genetics, vol 49, iss 3
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Marques, Ruben; Belousoye, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augeres, Guillaume Beaure; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, John C.; Jansen, Anna C.; Shinohara, Nobuo; LIorie, Shigeo; Kubota, Masaya; Tohyama, Jun; Imai, Katsumi; Kaneda, Mari; Kaneko, Hideo; Uchida, Yasushi; Kirino, Tomoko; Endo, Shoichi; Inoue, Yoshikazu; Uruno, Katsuhisa; Serdaroglu, Ayse; Yapici, Zuhal; Anlar, Banu; Altunbasak, Sakir; Lvova, Olga; Belyaev, Oleg Valeryevich; Agranovich, Oleg; Levitina, Elena Vladislavovna; Maksimova, Yulia Vladimirovna; Karas, Antonina; Jiang, Yuwu; Zou, Liping; Xu, Kaifeng; Zhang, Yushi; Luan, Guoming; Zhang, Yuqin; Wang, Yi; Jin, Meiling; Ye, Dingwei; Liao, Weiping; Zhou, Liemin; Liu, Jie; Liao, Jianxiang; Yan, Bo; Deng, Yanchun; Jiang, Li; Liu, Zhisheng; Huang, Shaoping; Li, Hua; Kim, Kijoong; Chen, Pei-Lung; Lee, Hsiu-Fen; Tsai, Jeng-Dau; Chi, Ching-Shiang; Huang, Chao-Ching; Riney, Australia Kate; Yates, Deborah; Kwan, Patrick; Likasitwattanakul, Surachai; Nabangchang, Charcrin; Chomtho, Lunliya Thampratankul Krisnachai; Katanyuwong, Kamornwan; Sriudomkajorn, Somjit; Wilmshurst, Jo; Segel, Reeval; Gilboa, Tal; Tzadok, Michal; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatzonis, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. M.; Dhooghe, Marc; Verhelst, Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne, Pierre; De Waele, Liesbeth; Leroy, Patricia; Demonceau, Nathalie; Legros, Benjamin; Van Bogaert, Patrick; Ceulemans, Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne De Saint; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan, Jean-Michel; Ville, Dorothee; Roubertie, Agathe; Auvin, Stephane; Berquin, Patrick; Richelme, Christian; Allaire, Catherine; Gueden, Sophie; Tich, Sylvie Nguyen The; Godet, Bertrand; Falco Rojas, Maria Luz Ruiz; Campistol Planas, Jaume; Martinez Bermejo, Antonio; Smeyers Dura, Patricia; Roldan Aparicio, Susana; Martinez Gonzalez, Maria Jesus; Lopez Pison, Javier; Blanco Barca, Manuel Oscar; Lopez Laso, Eduardo; Alonso Luengo, Olga; Aguirre Rodriguez, Francisco Javier; Malaga Dieguez, Ignacio; Camacho Salas, Ana; Marti Carrera, Itxaso; Martinez Salcedo, Eduardo; Yoldi Petri, Maria Eugenia; Cancho Candela, Ramon; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; da Silva Oliveira Monteiro, Jose Paulo; de Oliveira Ferreira Leao, Miguel Jorge Santos; Marceano Ribeiro Luis, Catarina Sofia; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Laberlandt, Edda, I; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Uvebrant, Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahi, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf, Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina; TOSCA Consortium; TOSCA Investigators
Academic Journal
Jansen, Anna C.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; d'Augeres, Guillaume Beaure; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, John C.; Shinohara, Nobuo; Horie, Shigeo; Kubota, Masaya; Tohyama, Jun; Imai, Katsumi; Kaneda, Mari; Kaneko, Hideo; Uchida, Yasushi; Kirino, Tomoko; Endo, Shoichi; Inoue, Yoshikazu; Uruno, Katsuhisa; Serdaroglu, Ayse; Yapici, Zuhal; Anlar, Banu; Altunbasak, Sakir; Lvova, Olga; Belyaev, Oleg Valeryevich; Agranovich, Oleg; Levitina, Elena Vladislavovna; Maksimova, Yulia Vladimirovna; Karas, Antonina; Jiang, Yuwu; Zou, Liping; Xu, Kaifeng; Zhang, Yushi; Luan, Guoming; Zhang, Yuqin; Wang, Yi; Jin, Meiling; Ye, Dingwei; Liao, Weiping; Zhou, Liemin; Liu, Jie; Liao, Jianxiang; Yan, Bo; Deng, Yanchun; Jiang, Li; Liu, Zhisheng; Huang, Shaoping; Li, Hua; Kim, Kijoong; Chen, Pei-Lung; Lee, Hsiu-Fen; Tsai, Jeng-Dau; Chi, Ching-Shiang; Huang, Chao-Ching; Riney, Kate; Yates, Deborah; Kwan, Patrick; Likasitwattanakul, Surachai; Nabangchang, Charcrin; Chomtho, Lunliya Thampratankul Krisnachai; Katanyuwong, Kamornwan; Sriudomkajorn, Somjit; Wilmshurst, Jo; Segel, Reeval; Gilboa, Tal; Tzadok, Michal; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatzonis, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. H.; Dhooghe, Marc; Verhelst, Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne, Pierre; De Waele, Liesbeth; Leroy, Patricia; Demonceau, Nathalie; Legros, Benjamin; Van Bogaert, Patrick; Ceulemans, Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne De Saint; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan, Jean-Michel; Ville, Dorothee; Roubertie, Agathe; Auvin, Stephane; Berquin, Patrick; Richelme, Christian; Allaire, Catherine; Gueden, Sophie; Sylvie Nguyen The Tich; Godet, Bertrand; Falco Rojas, Maria Luz Ruiz; Campistol Planas, Jaume; Martinez Bermejo, Antonio; Smeyers Dura, Patricia; Roldan Aparicio, Susana; Martinez Gonzalez, Maria Jesus; Lopez Pison, Javier; Blanco Barca, Manuel Oscar; Lopez Laso, Eduardo; Alonso Luengo, Olga; Aguirre Rodriguez, Francisco Javier; Malaga Dieguez, Ignacio; Camacho Salas, Ana; Marti Carrera, Itxaso; Martinez Salcedo, Eduardo; Yoldi Petri, Maria Eugenia; Cancho Candela, Ramon; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; da Silva Oliveira Monteiro, Jose Paulo; de Oliveira Ferreira Leao, Miguel Jorge Santos; Marceano Ribeiro Luis, Catarina Sofia; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Haberlandt, Edda; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Dahlin, Maria; Uvebrant, Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahl, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf, Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina; TOSCA Consortium; TOSCA Investigators
Academic Journal
Jansen, Anna C.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augeres, Guillaume Beaure; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, John C.; Shinohara, Nobuo; Horie, Shigeo; Kubota, Masaya; Tohyama, Jun; Imai, Katsumi; Kaneda, Mari; Kaneko, Hideo; Uchida, Yasushi; Kirino, Tomoko; Endo, Shoichi; Inoue, Yoshikazu; Uruno, Katsuhisa; Serdaroglu, Ayse; Yapici, Zuhal; Anlar, Banu; Altunbasak, Sakir; Lvova, Olga; Belyaev, Oleg Valeryevich; Agranovich, Oleg; Levitina, Elena Vladislavovna; Maksimova, Yulia Vladimirovna; Karas, Antonina; Jiang, Yuwu; Zou, Liping; Xu, Kaifeng; Zhang, Yushi; Luan, Guoming; Zhang, Yuqin; Wang, Yi; Jin, Meiling; Ye, Dingwei; Liao, Weiping; Zhou, Liemin; Liu, Jie; Liao, Jianxiang; Yan, Bo; Deng, Yanchun; Jiang, Li; Liu, Zhisheng; Huang, Shaoping; Li, Hua; Kim, Kijoong; Chen, Pei-Lung; Lee, Hsiu-Fen; Tsai, Jeng-Dau; Chi, Ching-Shiang; Huang, Chao-Ching; Riney, Kate; Yates, Deborah; Kwan, Patrick; Likasitwattanakul, Surachai; Nabangchang, Charcrin; Chomtho, Lunliya Thampratankul Krisnachai; Katanyuwong, Kamornwan; Sriudomkajorn, Somjit; Wilmshurst, Jo; Segel, Reeval; Gilboa, Tal; Tzadok, Michal; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatz, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. H.; Dhooghe, Marc; Verhelst, Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne, Pierre; De Waele, Liesbeth; Leroy, Patricia; Demonceau, Nathalie; Legros, Benjamin; Van Bogaert, Patrick; Ceulemans, Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne De St; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan, Jean-Michel; Ville, Dorothee; Roubertie, Agathe; Auvin, Stephane; Berquin, Patrick; Richelme, Christian; Allaire, Catherine; Gueden, Sophie; Tich, Sylvie Nguyen The; Godet, Bertrand; Rojas, Maria Luz Ruiz Falco; Planas, Jaume Campistol; Bermejo, Antonio Martinez; Dura, Patricia Smeyers; Aparicio, Susana Roldan; Gonzalez, Maria Jesus Martinez; Pison, Javier Lopez; Barca, Manuel Oscar Blanco; Laso, Eduardo Lopez; Luengo, Olga Alonso; Rodriguez, Francisco Javier Aguirre; Dieguez, Ignacio Malaga; Salas, Ana Camacho; Carrera, Itxaso Marti; Salcedo, Eduardo Martinez; Petri, Maria Eugenia Yoldi; Candela, Ramon Cancho; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; Monteiro, Jose Paulo da Silva Oliveira; Leao, Miguel Jorge Santos de Oliveira Ferreira; Luis, Catarina Sofia Marceano Ribeiro; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Haberland, Edda; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Uvebrant, Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahl, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf, Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina; TOSCA Consortium; TOSCA Investigators
Academic Journal
SENECA, SARA; LISSENS, WILLY; LIEBAERS, INGE; VAN DEN BERGH, PETER; NASSOGNE, MARIE CECILE; BENATAR, AVRAM; DE MEIRLEIR, LINDA
Journal of Medical Genetics. Nov 01, 1998 35(11):963-964
Academic Journal
Deconinck, Nicolas; Messaaoui, Anissa; Ziereisen, France; Kadhim, Hazim; Sznajer, Yves; Pelc, Karine; Nassogne, Marie Cecile; Vanier, Marie T.; Dan, Bernard
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[AR] Nassogne, Marie Cecile
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