학술논문
'학술논문'
에서 검색결과 23건 | 목록
1~10
Academic Journal
Knoop, Marieke M van der; Maroofian, Reza; Fukata, Yuko; Ierland, Yvette van; Karimiani, Ehsan G; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; França, Marina de; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A L; Eaton, Alison J; Morneau-Jacob, Francois D; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir
Academic Journal
Vanlı Yavuz, Ebru Nur; Altıokka, Güneş; Matur, Zeliha; Muona, Mikko; Bebek, Nerses; Gürses, Candan; Lehesjoki, Anna Elina; Gökyiğit, Ayşen; Baykan, Betül
Academic Journal
van der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry
Academic Journal
Yavuz, Ebru Nur Vanli; Altiokka, Gunes; Matur, Zeliha; Muona, Mikko; Bebek, Nerses; Gurses, Candan; Lehesjoki, Anna Elina; Gokyigit, Aysen; Baykan, Betul
Turkish Journal of Neurology. June 2016, Vol. 22 Issue 2, p84, 4 p.
Electronic Resource
Johannesen, Katrine M.; Gardella, Elena; Encinas, Alejandra C.; Lehesjoki, Anna Elina; Linnankivi, Tarja; Petersen, Michael B.; Lund, Ida Charlotte Bay; Blichfeldt, Susanne; Miranda, Maria J.; Pal, Deb K.; Lascelles, Karine; Procopis, Peter; Orsini, Alessandro; Bonuccelli, Alice; Giacomini, Thea; Helbig, Ingo; Fenger, Christina D.; Sisodiya, Sanjay M.; Hernandez-Hernandez, Laura; Krithika, Sundararaman; Rumple, Melissa; Masnada, Silvia; Valente, Marialuisa; Cereda, Cristina; Giordano, Lucio; Accorsi, Patrizia; Bürki, Sarah E.; Mancardi, Margherita; Korff, Christian; Guerrini, Renzo; von Spiczak, Sarah; Hoffman-Zacharska, Dorota; Mazurczak, Tomasz; Coppola, Antonietta; Buono, Salvatore; Vecchi, Marilena; Hammer, Michael F.; Varesio, Costanza; Veggiotti, Pierangelo; Lal, Dennis; Brünger, Tobias; Zara, Federico; Striano, Pasquale; Rubboli, Guido; Møller, Rikke S.
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 .
Electronic Resource
Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen Hann; Bird, Lynne M.; Nespeca, Mark; Gleeson, Joseph G.; Yoo, Yongjin; Choi, Murim; Chae, Jong Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S.; Schelhaas, Helenius J.; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G.; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E.; Pisani, Laura; Myers, Candace T.; Tang, Sha; Tang, Shan; Pal, Deb K.; Millichap, John J.; Carvill, Gemma L.; Helbig, Kathrine L.; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C; Møller, Rikke S.
Johannesen , K M , Gardella , E , Linnankivi , T , Courage , C , de Saint Martin , A , Lehesjoki , A E , Mignot , C , Afenjar , A , Lesca , G , Abi-Warde , M T , Chelly , J , Piton , A , Merritt , J L , Rodan , L H , Tan , W H , Bird , L M , Nespeca , M , Gleeson , J G , Yoo , Y , Choi , M , Chae , J H , Czapansky-Beilman , D , Reichert , S C , Pendziwiat , M , Verhoeven , J S , Schelhaas , H J , Devinsky , O , Christensen , J , Specchio , N , Trivisano , M , Weber , Y G , Nava , C , Keren , B , Doummar , D , Schaefer , E , Hopkins , S , Dubbs , H , Shaw , J E , Pisani , L , Myers , C T , Tang , S , Tang , S , Pal , D K , Millichap , J J , Carvill , G L , Helbig , K L , Mecarelli , O , Striano , P , Helbig , I , Rubboli , G , Mefford , H C & Møller , R S 2018 , ' Defining the phenotypic spectrum of SLC6A1 mutations ' , Epilepsia , vol. 59 , no. 2 , pp. 389-402 .
Electronic Resource
Oliver, Karen L.; Franceschetti, Silvana; Milligan, Carol J.; Muona, Mikko; Mandelstam, Simone A.; Canafoglia, Laura; Boguszewska-Chachulska, Anna M.; Korczyn, Amos D.; Bisulli, Francesca; Di Bonaventura, Carlo; Ragona, Francesca; Michelucci, Roberto; Ben-Zeev, Bruria; Straussberg, Rachel; Panzica, Ferruccio; Massano, João; Friedman, Daniel; Crespel, Arielle; Engelsen, Bernt A.; Andermann, Frederick; Andermann, Eva; Spodar, Krystyna; Lasek-Bal, Anetta; Riguzzi, Patrizia; Pasini, Elena; Tinuper, Paolo; Licchetta, Laura; Gardella, Elena; Lindenau, Matthias; Wulf, Annette; Møller, Rikke S.; Benninger, Felix; Afawi, Zaid; Rubboli, Guido; Reid, Christopher A.; Maljevic, Snezana; Lerche, Holger; Lehesjoki, Anna Elina; Petrou, Steven; Berkovic, Samuel F.
Oliver , K L , Franceschetti , S , Milligan , C J , Muona , M , Mandelstam , S A , Canafoglia , L , Boguszewska-Chachulska , A M , Korczyn , A D , Bisulli , F , Di Bonaventura , C , Ragona , F , Michelucci , R , Ben-Zeev , B , Straussberg , R , Panzica , F , Massano , J , Friedman , D , Crespel , A , Engelsen , B A , Andermann , F , Andermann , E , Spodar , K , Lasek-Bal , A , Riguzzi , P , Pasini , E , Tinuper , P , Licchetta , L , Gardella , E , Lindenau , M , Wulf , A , Møller , R S , Benninger , F , Afawi , Z , Rubboli , G , Reid , C A , Maljevic , S , Lerche , H , Lehesjoki , A E , Petrou , S & Berkovic , S F 2017 , ' Myoclonus epilepsy and ataxia due to KCNC1 mutation : Analysis of 20 cases and K + channel properties ' , Annals of Neurology , vol. 81 , no. 5 , pp. 677-689 .
Electronic Resource
Mignot, Cyril; von Stülpnage, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hörtnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Héron, Delphine; Kluger, Gerhard; Depienne, Christel; Craiu, Dana; De Jonghe, Peter; Helbig, Ingo; Guerrini, Renzo; Lehesjoki, Anna Elina; Marini, Carla; Muhle, Hiltrud; Møller, Rikke S.; Neubauer, Bernd; Pal, Deb; Selmer, Kaja; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Talvik, Tiina; von Spiczak, Sarah
Journal of Medical Genetics
Electronic Resource
de Lange, Iris M.; Helbig, Katherine L.; Weckhuysen, Sarah; Møller, Rikke S.; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C.; Myers, Candace T.; van Paesschen, Wim; Striano, Pasquale; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G.F.; Piard, Juliette; Minassian, Berge A.; Nezarati, Marjan M.; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van 't Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H.; Koeleman, Bobby P.C.; Craiu; Davila, Carol; Obregia, Alexandru; De Jonghe, Peter; Guerrini, Renzo; Lehesjoki, Anna Elina; Marini, Carla; Muhle, Hiltrud; Neubauer, Bernd; Pal, Deb; Selmer, Kaja; Stephani, Ulrich; Sterbova, Katalin; Talvik, Tiina; von Spiczak, Sarah; Caglayan, Hande; Weber, Yvonne; Hoffman-Zacharska, Dorota
Journal of Medical Genetics
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[AR] Lehesjoki, Anna Elina
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