Showing 1 - 7 results of 7 for search 'Maljevic, S', query time: 0.03s
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Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodi... by D.A. Ovchinnikov, S. Jong, C. Cuddy, I.E. Scheffer, S. Maljevic, S. Petrou
Published 2023-09-01
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An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gat... by Dmitry A. Ovchinnikov, Sharon Jong, Claire Cuddy, Kelly Dalby, Orrin Devinsky, Saul Mullen, Snezana Maljevic, Steve Petrou
Published 2024-04-01
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Development of a rapid functional assay that predicts GLUT1 disease severity by Zaman, SM, Mullen, SA, Petrovski, S, Maljevic, S, Gazina, EV, Phillips, AM, Jones, GD, Hildebrand, MS, Damiano, J, Auvin, S, Lerche, H, Weber, YG, Berkovic, SF, Scheffer, IE, Reid, CA, Petrou, S
Published 2018Journal article -
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Antisense oligonucleotide therapy for KCNT1 encephalopathy by Lisseth Estefania Burbano, Melody Li, Nikola Jancovski, Paymaan Jafar-Nejad, Kay Richards, Alicia Sedo, Armand Soriano, Ben Rollo, Linghan Jia, Elena V. Gazina, Sandra Piltz, Fatwa Adikusuma, Paul Q. Thomas, Helen Kopsidas, Frank Rigo, Christopher A. Reid, Snezana Maljevic, Steven Petrou
Published 2022-12-01
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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies by Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche
Published 2022-10-01
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Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations by Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic
Published 2019-07-01
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