학술논문
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'학술논문'
에서 검색결과 250건 | 목록
1~20
Academic Journal
Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate; Kershaw, Christopher; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry; Bello, Abiodun H; Iyagba, Alagoma; Macaya Ruiz, Alfons; Nabil, Amira; Gevorgyan, Ani; Muhammad, Anees; Pérez-Dueñas, Belen; Monteagudo Sanchez, Benigno; Sukhudyan, Biayna; Marinova Karashova, Blagovesta; Sanlidag, Burcin; Scuderi, Carmela; Shashkin, Chingiz; Spanaki, Cleanthe; Dardiotis, Efthymios; Torti, Erin; Nwazor, Ernest; Afzal, Erum; Borgione, Eugenia; Shaikh, Farooq; Al-Mutairi, Fuad; Di Rosa, Gabriella; Heimer, Gali; Xiromerisiou, Georgia; Melikishvili, Gia; Morello, Giovanna; Kathom, Hadil; Per, Hüseyin; Tomoum, Hoda; Javed, Iram; Al-Khawaja, Issam; Koneyev, Kairgali; Salayev, Kamran; Moodley, Kaminie; Senkevich, Konstantin; Arning, Larissa; Fidani, Liana; Taiwo, Lolade; Beridze, Maia; Ganieva, Manizha; Isayan, Mariam; Kekenadze, Mariam; García-Silva, Mayte; Vikelis, Michail; Tabatadze, Nazi; Zharkynbekova, Nazira; Noureen Rana, Nuzhat; Oguntunde, Olapeju; Ekenze, Oluchi; Ojo, Oluwadamilola O; Atawneh, Osama; Nicolaides, Paola; Kazadi, Prince; Kaiyrzhanov, Rauan; Maroofian, Reza; Boles, Richard; Ibadova, Rima; Savasta, Salvatore; Khachatryan, Samson; Portaro, Simona; Guliyeva, Sughra; Stojkovic, Tanya; Williams, Uduak; Guliyeva, Ulviyya; Salpietro, Vincenzo; Chelban, Viorica; Nachbauer, Wolfgang; Aughey, Gabriel N; Mine, Jun; Wahab, Kolawole; Zollo, Massimo; Cali, Elisa; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Pineda-Marfa, Mercedes; Aguennouz, Mhammed; Ferrari, Michel D; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; Mcfarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Abd El Hamed, Mohamed A; Murphy, David; Flemming, Kristina; Obiabo, Yahaya; Tavadyan, Zaruhi; Zholdasova, Zhibek; Sardar, Zomer; Al-Ajmi, Abdullah; Verrotti, Alberto; Van Den Maagdenberg, Arn M J M; Garavaglia, Barbara; Cormand, Bru; Timmann, Dagmar; Avdjieva, Daniela; Zamba Papanicolaou, Eleni; Alkuraya, Fowzan S; Silvestri, Gabriella; Koutsis, George; Marseglia, Giangluigi; Önemli Mungan, Halise Neslihan; Goraya, Jatinder S; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Badv, Reza Shervin; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; El Khorassani, Mohamed; Komolafe, Morenikeji; Okubadejo, Njideka U; Striano, Pasquale; Veggiotti, Pierangelo; Tincheva, Radka; Kirmani, Salman; Mangano, Salvatore; Abubakar, Sanni; Zhumakhanov, Dauren; Dauvilliers, Yves A; Sultan, Tipu; Boesch, Sylvia; Groppa, Stanislav; Ahmed Hamed, Sherifa; Lim, Shen-Yang; Ibrahim, Shahnaz; Banu, Selina; Papacostas, Savvas
Brain
Aughey, G N, Cali,E , Maroofian, R, Zaki, M S, Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E , Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S, McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E , Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S, Maqbool, S, Chandler, K E , Kershaw, C J, Wright, T, Banka, S, Gleeson, J G, Taylor, J C, Efthymiou, S, Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, ' Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder ', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211 . https://doi.org/10.1093/brain/awae363
Aughey, G N, Cali,E , Maroofian, R, Zaki, M S, Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E , Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S, McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E , Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S, Maqbool, S, Chandler, K E , Kershaw, C J, Wright, T, Banka, S, Gleeson, J G, Taylor, J C, Efthymiou, S, Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, 'Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211. https://doi.org/10.1093/brain/awae363
Aughey, G N, Cali,
Aughey, G N, Cali,
Academic Journal
Marianela Schiava; Yolande Parkhurst; Matthew Henderson; Tuomo Polvikoski; Manouela V. Valtcheva; Ichizo Nishino; Michio Inoue; Yukako Nishimori; Yoshihiko Saito; Tanya Stojkovic; Rocio N. Villar-Quiles; Norma Beatriz Romero; Teresinha Evangelista; Edoardo Malfatti; Sarah Souvannanorath; Elena Pegoraro; Pietro Riguzzi; Mauro Monforte; Sara Bortolani; Eleonora Torchia; Mario Sabatelli; Giorgio Tasca; Volker Straub; Chiara Marini-Bettolo; Michela Guglieri; Hakan Cetin; Ellen Gelpi; Sigrid Klotz; Jan L. De Bleecker; Alicia Alonso-Jimenez; Jonathan Baets; Willem De Ridder; Peter De Jonghe; Kristl G. Claeys; Dietmar Rudolf Thal; Jorge A. Bevilacqua; Sushan Luo; Wenhua Zhu; Jie Lin; George Papadimas; Constantinos Papadopoulos; Eleni Zamba-Papanicolaou; Sophia Xirou; Endre Pal; Carmelo Rodolico; Anna Kostera-Pruszczyk; Biruta Kierdaszuk; Anna Kaminska; Nuria Muelas; Juan Jesus Vilchez; Cristina Domínguez-González; Aurelio Hernandez-Lain; Jorge Alonso-Perez; Velina Nedkova-Hristova; Carlos Aledo; Anders Oldfors; Umesh A. Badrising; Hani Kushlaf; Thomas E. Lloyd; Chiseko Ikenaga; Lindsay N. Alfano; Colin C. Quinn; David Walk; Matthias Vorgerd; Conrad Weihl; Montse Olivé; Jordi Diaz-Manera; Adolfo López de Munain; Alba Ramos-Fransi; Aleksandra Nadaj-Pakleza; Alicia Martinez-Piñeiro; Ana Töpf; Anna Mayhew; Anna Rydelius; Anthony Behin; Antonio Toscano; Beatrice Lannes; Beatriz Velez; Benedikt Schoser; Bjarne Udd; Boel De Paepe; Bruno Eymard; Carla Marco Cazcarra; Carmen Paradas; Carola Hedberg-Oldfors; Channa Hewamadduma; Cheryl Longman; Christopher Nance; Corinne Metay; David Hilton-Jones; Edmar Zanotelli; Elizabeth A. Harrington; Ellen Eline; Eloy Rivas; Francesc Miralles Morell; Gergious Manousakis; Gianni Sorarù; Giulia Bisogni; Giuseppe Lucente; Guillaume Bassez; Judith Hudson; Kate Taylor; Kinga Hadzsiev; Luca Bello; Maria Elena Farrugia; Marianne de Visser; Mario Campero; Marion Masingue; Marta Caballero-Ávila; Matthew B. Harms; Meredith James; Mónica Povedano; Monika Hofer; Natalia Garcia-Angarita; Nicholas Earle; Noemi Vidal Sarró; Pascal Lafôret; Pascale Richard; Paulo Victor Sgobbi Souza; Phillipa J. Lamont; Pilar Camaño; Raúl Domínguez Rubio; Robert Carlier; Robert Muni-Lofra; Roberto Fernández-Torrón; Rodrigo Alvarez; Rudi Kley; Sabine Krause; Sarah Leonard-Louis; Simone Thiele; Sruthi S. Nair; Stefen Brady; Stojan Peric; Stuart Ralston; Tiffany Grider; Timothy Williams; Vidosava Rakocevic-Stojanovic; Virginia Kimonis; William Kelly; Young-Eun Park; Zarife Sahenk
Neurol Genet
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
instname
Neurology : Genetics
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
instname
Neurology : Genetics
Academic Journal
Tsokkos T; Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Strataki E; 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Tzavella D; 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Zamba-Papanicolaou E; Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Kleopa KA; Center for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Department of Neuroscience, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Zouvelou V; 1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE
Academic Journal
Groppa, Stanislav; Marinova Karashova, Blagovesta; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Di Rosa, Gabriella; Goraya, Jatinder S.; Sultan, Tipu; Mine, Jun; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Pineda-Marfa, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrotti, Alberto; Marseglia, Giangluigi; Savasta, Salvatore; García-Silva, Mayte; Macaya Ruiz, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Monteagudo Sanchez, Benigno; Boles, Richard; Papacostas, Savvas; Vikelis, Michail; Zamba Papanicolaou, Eleni; Dardiotis, Efthymios; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Koutsis, George; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Stojkovic, Tanya; Zollo, Massimo; Heimer, Gali; Dauvilliers, Yves A.; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Hamed, Sherifa Ahmed; Abd El Hamed, Mohamed A.; Khachatryan, Samson; Guliyeva, Ulviyya; Guliyeva, Sughra; Salayev, Kamran; Xiromerisiou, Georgia; Fidani, Liana; Spanaki, Cleanthe; Aguennouz, Mhammed; Silvestri, Gabriella; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Al-Ajmi, Abdullah; Lim, Shen-Yang; Shaikh, Farooq; El Khorassani, Mohamed; van den Maagdenberg, Arn M.J.M.; Okubadejo, Njideka U.; Ojo, Oluwadamilola O.; Wahab, Kolawole; Bello, Abiodun H.; Abubakar, Sanni; Obiabo, Yahaya; Nwazor, Ernest; Ekenze, Oluchi; Williams, Uduak; Iyagba, Alagoma; Taiwo, Lolade; Komolafe, Morenikeji; Oguntunde, Olapeju; Senkevich, Konstantin; Manizha, Ganieva; Isrofilov, Maksud; Torti, Erin; Zaki, Maha; Tomoum, Hoda; Nabil, Amira; Nicolaides, Paola; Haider, Shahzad; Hasbini, Dana; Alam, Chadi el; Huneineh, Mona; Zafar, Faisal; Afzal, Erum; Muhammad, Ilyas; Nalini, Atchayaram; Bakhtaze, Sofia; Baig, Shahid; Issa, Ben; Triki, Chahnez; Bassam, Mussa; Craiou, Dana; Tazir, Meriem; Patcha, Lamia Ali; Waill Saadi, Nebal; Benrhouma, Hanene; Saraf, Payam; Hama Salih, Khalid; Awatif; Alabdi, Lama ; Altuwaijri, Norah ; Zhu, Jun-yi ; Efthymiou, Stephanie ; Lee, Hangnoh ; Duan, Jianli ; Salem, Israa ; Yu, Piao ; Abdullah, Nor Linda ; Alzahrani, Fatema ; Xu, Qing ; Felemban, Mashael M. ; Alfaifi, Abdullah ; Rahman, Fatima ; Christoforou, Marilena ; Maqbool, Shazia ; Martinez-Agosto, Julian A. ; Alsaif, Hessa S. ; Hashem, Mais ; Helaby, Rana ; Alsulaiman, Ahood ; Maroofian, Reza ; Houlden, Henry ; Arold, Stefan T. ; Ibrahim, Leena A. ; Han, Zhe ; Alkuraya, Fowzan S.
In eBioMedicine June 2025 116
Academic Journal
D'Amico, A. ; Baets, J. ; Baumann, M. ; van der Beek, N. ; De Bleecker, J. ; Bruijnes, A. ; Claeys, K. ; Bruno, C. ; Dambrauskiene, M. ; D'Errico, E. ; Filosto, M. ; Gosk-Tomek, M. ; Herdewyn, S. ; Kornblum, C. ; Kostera-Pruszczyk, A. ; Maggi, L. ; Manganelli, F. ; Mueller-Felber, W. ; Munell, F. ; Nadaj-Pakleza, A. ; Nascimento, A. ; Olive, M. ; Ørstavik, K. ; Palmio, J. ; Pegoraro, E. ; Peterlin, B. ; van der Ploeg, A.T. ; Quijano-Roy, S. ; Remiche, G. ; Ricci, G. ; Rohlenová, M. ; Rosenbohm, A. ; Sacconi, S. ; Sansone, V. ; Santos, M. ; Schara-Schmidt, U. ; Servidei, S. ; Siciliano, G. ; Soler, D. ; Stojkovic, T. ; Vali, L. ; Verschuuren, J. ; Viktorija, K. ; Wadman, R.I. ; Walter, M.C. ; Weiss, C. ; Zamba-Papanicolaou, E. ; Zambon, A. ; Kruse, M.T.A. ; Olde Dubbelink, B.A.S. ; Kroneman, M. ; de Groot, I. ; Schlüter, S. ; de Visser, M. ; Evangelista, T. ; Moretti, A. ; Weber, D. ; Ward, L.M. ; Voermans, N.C.
In Journal of the Neurological Sciences 15 May 2025 472
Academic Journal
Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V.; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N.; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L.; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G.; Thal, Dietmar Rudolf; Bevilacqua, Jorge A.; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A.; Kushlaf, Hani; Lloyd, Thomas E.; Ikenaga, Chiseko; Alfano, Lindsay N.; Quinn, Colin C.; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi
Neurology Genetics. Jul 16, 2025 11(4)
Conference
2019 IEEE 19th International Conference on Bioinformatics and Bioengineering (BIBE) Bioinformatics and Bioengineering (BIBE), 2019 IEEE 19th International Conference on. :832-837 Oct, 2019
Academic Journal
Obici, Laura; Ajroud-Driss, Senda; Lin, Kon-Ping; Berk, John L.; Gillmore, Julian D.; Kale, Parag; Koike, Haruki; Danese, David; Aldinc, Emre; Chen, Chongshu; Vest, John; Adams, David; Wixner, Jonas; Backlund, Rolf; Pilebro, Björn; Anan, Intissar; Edbom, Fredrik; Ekman, Anna; Arvidsson, Sandra; Englund, Ulrika; Söderberg, Karin; Nordh, Erik; Uneus, Erica; Samuelsson, Kristin; Nilzen, Anna; Press, Rayomand; Bilecen, Mirjam; Coelho, Teresa; Novais, Marta; Rodrigues, Patricia; Martins da Silva, Ana; Cardoso, Inês; Rodrigues, Carla; Ramalho, Joana; Martins, Helder; Silva, Mónica; Guimaraes, Nádia; Perez, Javier; Reis, Antonio Hipólito; Monte, Julia; Ferreira, Natalia; Alves, Cristina; Cardoso, Marcio; Teixeira, Ricardo; Conceição, Isabel; Lamas, Filipa; Oliveira Santos, Miguel; Campos, Catarina; de Azevedo Coutinho, Conceiçao; Castro, José; Castro, Isabel; Silva, Daniela; Gonçalves, Susana; Di Buduo, Eleonora; Sforzini, Claudia; Mussinelli, Roberta; Rosti, Vittorio; Lozza, Alessandro; Racchi, Anna; Sabatelli, Mario; Luigetti, Marco; Bisogni, Giulia; Romano, Angela; Guglielmino, Valeria; Di Paolantonio, Andrea; Bernardo, Daniela; Vita, Giuseppe; Mazzeo, Anna; Russo, Massimo; Pareyson, Davide; Calabrese, Daniela; Fenu, Silvia; Saveri, Paola; Nienhuis, Hans; Bokhorst, Geert; Roos, Carlien; Couperus, Margriet; De Jong, Greetje; Brunger, Anne; Drost, Gea; Lange, Fiete; Colauto, Adinda; Waddington-Cruz, Márcia; Abreu, Aline; Pedrosa, Roberto Coury; Gervais de Santa Rosa, Renata; Dias, Moisés; Rakotondratafika, Fetra; Echaniz-Laguna, Andoni; Cauquil, Cecile; Labeyrie, Céline; Beaudonnet, Guillemette; Boubrit, Yasmine; Gaouar, Amina; Bourenane, Halima; Attarian, Shahram; Yahia, El Khansa; Verschueren, Annie; Grapperon, Aude-Marie; Delmont, Emilien; Planté-Bordeneuve, Violaine; Vervoitte, Laetitia; Ayache, Samar S.; Le Corvoisier, Philippe; Arrouasse, Raphaele; Gendre, Thierry; Abou Chakra, Laure; Focsénéanu, Cécile; Barau, Caroline; Sole, Guilhem; Belin, Laurie; Violleau, Marie Helene; Duval-Bontemps, Fanny; Massie, Rami; Dong, Xin; Muñoz-Beamud, Francisco; García Garrido, Sandra; Borrachero, Cristina; Gragera Martinez, Alvaro; Galán Dávila, Lucía; Palacios, Marta; Vicente, Laura M.; Perez de Isla, Leopoldo; Casasnovas, Carlos; Díez López, Carles; Fabra, Elena; González-Costello, José; Guerrero, Sonia; Yun Viladomat, Sergi; Martinez, Yurema; Velez-Santamaria, Valentina; Nedkova-Hristova, Velina; Garcia Pavia, Pablo; Gonzalez Segovia, Ariadna; De Frutos, Fernando; Gonzalez-Lopez, Esther; Dominguez, Fernando; Escobar-López, Luis E.; Cabrera-Romero, Eva; Sánchez Gismera, Paula; de la Iglesia, María; Martinez Valle, Fernando; Mazuela Aguila, Gonzalo; Lorite, Karen; Raguer, Núria; Suñé, Pilar; Piera, Pablo; Ortega, Carlos; Aguilar, Carla; Gili, Gisela; Schmidt, Hartmut; Langenstroer, Christel; Hüsing-Kabar, Anna; Kabar, Iyad; Schilling, Matthias; Friebel, Frauke; Tepasse, Phil-Robin; Birklein, Frank; Firros, Monika; Escolano-Lozano, Fabiola; Brueckner, Caitlin; Bahnam, Vanessa; Kaku, Michelle C.; Lau, K. H. Vincent; Wiesman, Janice; Grogan, Martha; Miller, Susanna; Frantz, Janell; Schmidt, Diane C.; AbouEzzeddine, Omar; Miller, Wayne; Lin, Grace; Gertz, Morie; Dispenzieri, Angela; Brannagan, Thomas; Fayerman, Raisy; DuVerger, Elizabeth; Cabrera, Jorge; Maurer, Mathew S.; Ulane, Christina M.; Weimer, Louis H.; Tsang, Stephen; Shije, Jeffrey; Carberry, Nathan; Thu, Sai Si; Quan, Dianna; Blume, Brianna; Overcash, J. 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Neurology and Therapy, Vol 12, Iss 5, Pp 1759-1775 (2023)
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IEEE Journal of Biomedical and Health Informatics IEEE J. Biomed. Health Inform. Biomedical and Health Informatics, IEEE Journal of. 23(1):26-37 Jan, 2019
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Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Epilepsia, vol 64, iss 2
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Epilepsia, vol 64, iss 2
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The Lancet Neurology. 20:49-59
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Consejo Nacional de Investigaciones Científicas y Técnicas
Annals of Neurology
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CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Annals of Neurology
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Academic Journal
David Adams; Jonas Wixner; Michael Polydefkis; John L. Berk; Isabel M. Conceição; Angela Dispenzieri; Amanda Peltier; Mitsuharu Ueda; Shaun Bender; Kelley Capocelli; Patrick Y. Jay; Elena Yureneva; Laura Obici; Giuseppe Vita; Vincenzo Rizzo; Massimo Russo; Anna Mazzeo; Luca Gentile; John L Berk; Janice Wiesman; Michelle Kaku; Vincent Lau; Douglas DeLong; James Dalton; John May; Shahram Attarian; Emilien Delmont; Jean Pouget; Annie Verschueren; Aude-Marie Grapperon; Emmanuelle Campana-Salort; Isabel M Conceição; Carlos Neves; Miguel O Santos; Conceição de Azevedo Coutinho; Catarina Falcao de Campos; Teresa Coelho; Antonio H Reis; Nuno Correia; Javier M Perez; Ana Martins da Silva; Cristina Alves; Marcio Cardoso; Katia Valdrez; Julia R Monte; Marta Novais; Nadia Guimaraes; Ines Cardoso; Monica Freitas; Joana Ramalho; Natalia Ferreira; Daisuke Kuzume; Masahiro Yamasaki; Yuko Morimoto; Celine Tard; Eric Hachulla; Clement Gauvain; Maria-Claire Migaud-Chervy; Dominique Deplanque; Elsa Jozefowicz; Loic Lebellec; Marie Théaudin-Saliou; Cécile Cauquil-Michon; Celine Labeyrie; Adeline Not; Abdallah Al-Salameh; Anne-Lise Lecoq; Maeva Stephant; Andoni Echaniz-Laguna; Laurent Becquemont; Guillemette Beaudonnet; Vincent Algalarrondo; Ludivine Eliahou; Michel S Slama; Antoine Rousseau; Aissatou Signate; Paola Darche; Jerome Grimaud; Emeline Berthelot; Jocelyn Inamo; Violaine Planté-Bordeneuve; Thierry Gendre; Raphaele Arrouasse; Samar S Ayache; Laura Ernande; Philippe Le Corvoisier; Hayet Salhi; Ariane Choumert; Cyril Charlin; Thomas Megelin; Thomas H Brannagan III; Steven Tsang; Fernanda Wajnsztajn; Jeffrey Shije; Christina Ulane; Inna Kleyman; Louis Weimer; Comana Cioroiu; Kleopas Kleopa; Eleni Zamba-Papanicolaou; Satoshi Tada; Masahiro Nagai; Rina Ando; Yuki Yamanishi; J Scott Overcash; Sinikka Green; Michael Waters; Derya J Coskun; Paul Manos; Karla A Zepeda; William O’Riordan; Andrea Cortese; Alessandro Lozza; Giampaolo Merlini; Vittorio Rosti; Mario Sabatelli; Giulia Bisogni; Daniela Bernardo; Marco Luigetti; Andrea Di Paolantonio; Valeria Guglielmino; Angela Romano; Hans Nienhuis; Arnt V Kristen; Christian Nagel; Fabian aus dem Siepen; Selina Hein; Shuichiro Neshige; Josep M Campistol; Lida Maria Rodas Marin; Josep Miquel Blasco Pelicano; Lucía Galán Dávila; Vanesa Pytel Cordoba; Antonio Guerrero Sola; Alejandro Horga; Julián García Feijoo; Leopoldo Perez de Isla; Wilson Marques Júnior; Carolina Lavigne Moreira; Vanessa Daccach Marques; Francisco Munoz Beamud; Cristina Borrachero; Inés AL López; Monica Sanz; Elena Rigo Oliver; Juan González Moreno; Jose M Gamez Martinez; Cristina Descals; Mercedes Uson; Francisco Jose Vega; Antoni Figuerola; Carles Montala; Márcia Waddington-Cruz; Aline Souza de Abreu; Moises Dias da Silva; Renata Gervais de Santa Rosa; Marcus Vinicius Pinto; Amanda Cardoso Berensztejn; Luiz Felipe Pinto; Mariana de Andrade Guedes; Fabio Barroso; Andrea Lautre; Lucas G Orellana; Maria Alejandra González-Duarte Briseño; Karla Cárdenas-Soto; Carlos Gerardo Cantú Brito; David Rivera de la Parra; Jose Pablo Hernandez Reyes; Maria del Mar Saniger Alba; Yesim Parman; Erdi Sahin; Nail G Serbest; Hacer Durmus; Arman Cakar; Sacit Karamursel; Ali Elitok; Nermin G Sirin Inan; Emre Altinkurt; Adriane C Allen; Vinay Chaudhry; Raquel Jarrett; Neil Bressler; Mandeep Singh; Mohammad Khoshnoodi; Daniel P Judge; Alvin T Lui; Tae Hwan Chung; Geno Vista; Syed Mahmood Shah; Hirotoshi Hamaguchi; Tetsuya Oda; Masahiro Shimomura; Christof Scheid; Udo Holtick; Jeeyoung Oh; Hee Jin Kim; Hyun Jin Shin; Kyomin Choi; Yohei Misumi; Toshiya Nomura; Takahisa Tateishi; Elizabeth A Mauricio; Elliot Dimberg; Leslie T Cooper; Amie Fonder; Miriam Hobbs; Peter Dyck; Wilson Gonsalves; Nelson Leung; Thomas E Witzig; Lisa Hwa; Prashant Kapoor; Shaji K Kumar; Yi Lin; Vincent S Rajkumar; David Dingli; Morie A Gertz; Peter J Dyck; Linde Gove; Samir Dalia; David Croy; Tim Holding; Peter Gorevic; Chi-Chao Chao; Ming-Jen Lee; Jen-Jen Su; Sung-Tsang Hsieh; Li-Kai Tsai; Shin-Joe Yeh; Chih-Chao Yang; Chao-Wen Lin; Senda Ajroud-Driss; Robert Sufit; John-Michael Li; Miriam Freimer; Samantha LoRusso; Yasuhiro Aso; Byoung-Joon Kim; JuHyeon Kim; Ga Yeon Lee; Eun Bin Cho; Eun-Seok Jeon; Ju-Hong Min; Jin Myoung Seok; Hye Lim Lee; Jae Hong Park; Yoshiki Sekijima; Nagaaki Kato; Dai Kishida; Akiyo Hineno; Minori Kodaira; Tsuneaki Yoshinaga; Ken Takasone; Teruyoshi Miyahara; Yusuke Takahashi; Akira Imai; Kazuhiko Matsumoto; Kon-Ping Lin; Yi-Chung Lee; Bjorn Pilebro; Ole Suhr; Intissar Anan; Erik Nordh; Fatima Pedrosa-Domellöf; Maria Chermenina; Anneli Nygren; Ivaylo Tournev; Sashka Zhelyazkova-Glaveeva; Zheyna Cherneva; Staiko Sarafov; Teodora Chamova; Sylvia Cherninkova-Gopina; Hartmut H Schmidt; Elena Vorona; Anna Huesing-Kabar; Matthias Schilling; Iyad Kabar; Phil-Robin Tepasse; Julian D Gillmore; Ana Martinez-Naharro; Liza Chacko; Oliver Cohen; Steven Law; Tamer Rezk; Helen J Lachmann; Dianna Quan; Stacy Dixon; Vera Fridman; Soon Chai Low; Khean Jin Goh; Michelle M Mezei; Kristin Jack; N. Kevin Wade; Glenn Lopate; Stephanie Geisler; R. Brian Sommerville; Julaine Florence; Graeme Stewart; Mark Taylor; Daniel Suan
JAMA Neurol
Academic Journal
Record CJ; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; O'Connor A; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Verbeek NE; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Zamba Papanicolaou E; Neuroepidemiology Department of The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Peric S; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Neurology Clinic, University Clinical Centre of Serbia, Belgrade, Serbia.; Ligthart PC; Department of Immunohematology Diagnostic Services, Sanquin Diagnostic Services, Amsterdam, The Netherlands.; Skorupinska M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Campeau PM; Department of Pediatrics, University of Montreal, Montreal, Canada.; Ivanovic V; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Neurology Clinic, University Clinical Centre of Serbia, Belgrade, Serbia.; Hennigan B; Clinical Neurophysiology Department, Tallaght University Hospital, Dublin, Ireland.; McHugh JC; Clinical Neurophysiology Department, Tallaght University Hospital, Dublin, Ireland.; Clinical Neurophysiology Department, Children's Health Ireland at Crumlin, Dublin, Ireland.; Blake JC; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.; Murakami Y; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Suita, Japan.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Murphy SM; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Academic Journal
Abu Manneh R; Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Cancer Genetics, Therapeutics & Ultrastructural Pathology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Chairta PP; Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Loizidou MA; Cancer Genetics, Therapeutics & Ultrastructural Pathology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Zanti M; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Georgiou AN; Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Department of Psychology, University of Cyprus, Nicosia 1678, Cyprus.; Michailidou K; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Demetriou C; Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Pantzaris M; Neuroimmunology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Zamba-Papanicolaou E; Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Hadjisavvas A; Cancer Genetics, Therapeutics & Ultrastructural Pathology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Academic Journal
Oved K; Canopy Immuno-Therapeutics, Haifa, Israel.; Denkberg G; Canopy Immuno-Therapeutics, Haifa, Israel.; Pinzur L; Canopy Immuno-Therapeutics, Haifa, Israel.; Chroni E; Department of Neurology, School of Medicine, University of Patras, Rio-Patras, Greece.; Zouvelou V; 1st Department of Neurology, School of Medicine, Aeginition Hospital, National and Kapodistrian University of Athens, Greece.; Arman I; Canopy Immuno-Therapeutics, Haifa, Israel.; Mazor RD; Canopy Immuno-Therapeutics, Haifa, Israel.; Reef S; Canopy Immuno-Therapeutics, Haifa, Israel.; Harel O; Canopy Immuno-Therapeutics, Haifa, Israel.; Ntoukaki E; Department of Immunology, Hellenic Pasteur Institute, Athens, Greece.; Pechlivanidou M; Tzartos Neuro-Diagnostics, Athens, Greece.; Ninou E; Tzartos Neuro-Diagnostics, Athens, Greece.; Tzanetakos D; 2nd Department of Neurology, 'Attikon' University Hospital, School of Medicine, NKUA, Athens, Greece.; Salakou S; 2nd Department of Neurology, 'Attikon' University Hospital, School of Medicine, NKUA, Athens, Greece.; Chondrogianni M; 2nd Department of Neurology, 'Attikon' University Hospital, School of Medicine, NKUA, Athens, Greece.; Daponte A; 1st Department of Neurology, School of Medicine, Aeginition Hospital, National and Kapodistrian University of Athens, Greece.; Rentzos M; 1st Department of Neurology, School of Medicine, Aeginition Hospital, National and Kapodistrian University of Athens, Greece.; Parisis D; 2nd Neurology Department, University Hospital of Thessaloniki 'AHEPA', Greece.; Zamba-Papanicolaou E; Neuromuscular Disorders Center, The Cyprus Institute of Neurology and Genetics, Nicosia.; Pantzaris M; Neuromuscular Disorders Center, The Cyprus Institute of Neurology and Genetics, Nicosia.; Kleopa KA; Neuromuscular Disorders Center, The Cyprus Institute of Neurology and Genetics, Nicosia.; Dardiotis E; Department of Neurology, University of Thessaly, Larissa, Greece.; Vadikolias K; Neurology Department, Democritus University of Thrace, Alexandroupolis, Greece.; Heliopoulos I; Neurology Department, Democritus University of Thrace, Alexandroupolis, Greece.; Koutsouraki E; First Neurology Department, University Hospital of Thessaloniki 'AHEPA', Greece.; Voumvourakis KI; 2nd Department of Neurology, 'Attikon' University Hospital, School of Medicine, NKUA, Athens, Greece.; Konitsiotis S; Neurology Department, University Hospital of Ioannina, Greece.; Giannopoulos S; 2nd Department of Neurology, 'Attikon' University Hospital, School of Medicine, NKUA, Athens, Greece.; Grigoriadis NC; 2nd Neurology Department, University Hospital of Thessaloniki 'AHEPA', Greece.; Kab T; Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medicine, Tel-Aviv University, Israel.; Friedman Y; Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medicine, Tel-Aviv University, Israel.; Hellmann MA; Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medicine, Tel-Aviv University, Israel.; Alon T; Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medicine, Tel-Aviv University, Israel.; Olmer L; Bio-statistical and Bio-mathematical Unit, The Gertner Institute of Epidemiology and Health Policy Research, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel; and.; Tsivgoulis G; 2nd Department of Neurology, 'Attikon' University Hospital, School of Medicine, NKUA, Athens, Greece.; Lazaridis K; Department of Immunology, Hellenic Pasteur Institute, Athens, Greece.; Wilf-Yarkoni A; Rabin Medical Center, Petach Tikva, Israel.; Faculty of Medicine, Tel-Aviv University, Israel.; Tzartos J; Tzartos Neuro-Diagnostics, Athens, Greece.; 2nd Department of Neurology, 'Attikon' University Hospital, School of Medicine, NKUA, Athens, Greece.; Tzartos S; Tzartos Neuro-Diagnostics, Athens, Greece.; Department of Neurobiology, Hellenic Pasteur Institute, Athens, Greece.
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE
Academic Journal
Livanos I; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.; Votsi C; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.; Michailidou K; The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Pellerin D; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, CanadaH3A 2B4.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, CanadaH3A 2B4.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Pantzaris M; The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.; Neuroimmunology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Kleopa KA; The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.; Neuroscience Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Centre for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Zamba Papanicolaou E; The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.; Centre for Neuromuscular Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Neuroepidemiology Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; Christodoulou K; Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.; The Cyprus Institute of Neurology and Genetics is a member of the European Reference Network-Rare Neurological Diseases (ERN-RND), Research Management Unit, Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen 72076, Germany.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Academic Journal
Tsokkos T; Neurology Clinics, Institute of Neurology and Genetics, Nicosia, Cyprus. tasost@cing.ac.cy.; Christodoulou K; Neurogenetics Department,, Institute of Neurology and Genetics, Nicosia, Cyprus.; Votsi C; Neurogenetics Department,, Institute of Neurology and Genetics, Nicosia, Cyprus.; Georghiou A; Neurogenetics Department,, Institute of Neurology and Genetics, Nicosia, Cyprus.; Christofides A; Clinical Genetics Clinic, Institute of Neurology and Genetics, Nicosia, Cyprus.; Constantinou A; Neurology Clinics, Institute of Neurology and Genetics, Nicosia, Cyprus.; Zamba-Papanicolaou E; Neurology Clinics, Institute of Neurology and Genetics, Nicosia, Cyprus.; Neuroepidemiology Department, Institute of Neurology and Genetics, Nicosia, Cyprus.
Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE
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