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Number of items: 5.

Wilbur, Colin; Buerki, Sarah E; Guella, Ilaria; Toyota, Eric B; Evans, Daniel M; McKenzie, Marna B; Datta, Anita; Michoulas, Aspasia; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Farrer, Matthew J; Connolly, Mary B; Demos, Michelle (2017). An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2. Pediatric Neurology, 75:87-90.

Straniero, Letizia; Guella, Ilaria; Cilia, Roberto; Parkkinen, Laura; Rimoldi, Valeria; Young, Alexander; Asselta, Rosanna; Soldà, Giulia; Sossi, Vesna; Stoessl, A Jon; Priori, Alberto; Nishioka, Kenya; Hattori, Nobutaka; Follett, Jordan; Rajput, Alex; Blau, Nenad; Pezzoli, Gianni; Farrer, Matthew J; Goldwurm, Stefano; Rajput, Ali H; Duga, Stefano (2017). DNAJC12 and dopa-responsive nonprogressive parkinsonism. Annals of Neurology, 82(4):640-646.

Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Buerki, Sarah E; Toyota, Eric B; Van Allen, Margot I; Epilepsy Genomics Study, ?; Suri, Mohnish; Elmslie, Frances; Deciphering Developmental Disorders Study; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J (2017). De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American Journal of Human Genetics, 101(2):300-310.

Lehman, Anna; Thouta, Samrat; Mancini, Grazia M S; Naidu, Sakkubai; van Slegtenhorst, Marjon; McWalter, Kirsty; Person, Richard; Mwenifumbo, Jill; Salvarinova, Ramona; CAUSES Study; EPGEN Study; Guella, Ilaria; McKenzie, Marna B; Datta, Anita; Connolly, Mary B; Kalkhoran, Somayeh Mojard; Poburko, Damon; Friedman, Jan M; Farrer, Matthew J; Demos, Michelle; Desai, Sonal; Claydon, Thomas (2017). Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. American Journal of Human Genetics, 101(1):65-74.

Guella, Ilaria; Huh, Linda; McKenzie, Marna B; Toyota, Eric B; Bebin, E Martina; Thompson, Michelle L; Cooper, Gregory M; Evans, Daniel M; Buerki, Sarah E; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Connolly, Mary B; Farrer, Matthew J; Demos, Michelle (2016). De novo mutation in 2 patients with neonatal-onset epilepsy. Neurology Genetics, 2(6):e120.

This list was generated on Tue Jun 18 21:29:20 2019 CEST.