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Publication YearTitleAuthor(s)
124-Aug-2022Response to sequential treatment with prednisolone and vigabatrin in infantile spasms.Dzau, Winston; Cheng, Sally; Snell, Penny; Fahey, Michael; Scheffer, Ingrid E ; Harvey, A Simon; Howell, Katherine B
29-Aug-2022Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing.Rafehi, Haloom; Green, Cherie; Bozaoglu, Kiymet; Gillies, Greta; Delatycki, Martin B ; Lockhart, Paul J; Scheffer, Ingrid E ; Bahlo, Melanie
329-Jul-2022Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A; Bennett, Mark F ; Damiano, John A; Zsurka, Gábor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stéphanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E ; Bahlo, Melanie; Berkovic, Samuel F ; Hildebrand, Michael S ; Kunz, Wolfram S; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso
421-Jul-2022Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Green, Timothy E; Motelow, Joshua E; Bennett, Mark F ; Ye, Zimeng; Bennett, Caitlin A; Griffin, Nicole G; Damiano, John A; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Lockhart, Paul J; Sadleir, Lynette G; Boys, Amber; Scheffer, Ingrid E ; Major, Heather; Darbro, Benjamin W; Bahlo, Melanie; Goldstein, David B; Kerrigan, John F; Heinzen, Erin L; Berkovic, Samuel F ; Hildebrand, Michael S 
521-Jul-2022Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex.Sapir, Tamar; Kshirsagar, Aditya; Gorelik, Anna; Olender, Tsviya; Porat, Ziv; Scheffer, Ingrid E ; Goldstein, David B; Devinsky, Orrin; Reiner, Orly
619-Jul-2022Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; Krijtova, Hana; Leffner, Melanie; Lerche, Holger; Lesca, Gaetan; Lewis-Smith, David; Marini, Carla; Marjanovic, Dragan; Mazzola, Laure; McKeown Ruggiero, Sarah; Mochel, Fanny; Ramond, Francis; Reif, Philipp S; Richard-Mornas, Aurélie; Rosenow, Felix; Schropp, Christian; Thomas, Rhys H; Vignoli, Aglaia; Weber, Yvonne; Palmer, Elizabeth; Helbig, Ingo; Scheffer, Ingrid E ; Striano, Pasquale; Møller, Rikke S; Gardella, Elena; Weckhuysen, Sarah
75-Jul-2022Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E ; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A
85-Jul-2022Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.Stutterd, C A; Vanderver, A; Lockhart, P J; Helman, G; Pope, K; Uebergang, E; Love, C; Delatycki, M B; Thorburn, D; Mackay, M T; Peters, H; Kornberg, A J; Patel, C; Rodriguez-Casero, V; Waak, M; Silberstein, J; Sinclair, A; Nolan, M; Field, M; Davis, M R; Fahey, M; Scheffer, Ingrid E ; Freeman, J L; Wolf, N I; Taft, R J; van der Knaap, M S; Simons, C; Leventer, R J
9Jul-2022A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.Striano, Pasquale; Auvin, Stéphane; Collins, Abigail; Horvath, Rita; Scheffer, Ingrid E ; Tzadok, Michal; Miller, Ian; Kay Koenig, Mary; Lacy, Adrian; Davis, Ronald; Garcia-Cazorla, Angela; Saneto, Russell P; Brandabur, Melanie; Blair, Susan; Koutsoukos, Tony; De Vivo, Darryl
10Jul-2022The role of common genetic variation in presumed monogenic epilepsies.Campbell, Ciarán; Leu, Costin; Feng, Yen-Chen Anne; Wolking, Stefan; Moreau, Claudia; Ellis, Colin; Ganesan, Shiva; Martins, Helena; Oliver, Karen; Boothman, Isabelle; Benson, Katherine; Molloy, Anne; Brody, Lawrence; Michaud, Jacques L; Hamdan, Fadi F; Minassian, Berge A; Lerche, Holger; Scheffer, Ingrid E ; Sisodiya, Sanjay; Girard, Simon; Cosette, Patrick; Delanty, Norman; Lal, Dennis; Cavalleri, Gianpiero L