Not logged in Functional impairment of cortical AMPA receptors in schizophrenia Zeppillo, Tommaso; Schulmann, Anton; Macciardi, Fabio; Hjelm, Brooke E.; Focking, Melanie; Sequeira, P. Adolfo; Guella, Ilaria; Cotter, David; Bunney, William E.; Limon, Agenor; Vawter, Marquis P. Share Save
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko Share Save
Defining the phenotype of FHF1 developmental and epileptic encephalopathy Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L.; Minassian, Berge A.; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L.; Cooper, Gregory M.; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M.; Demos, Michelle; Scheffer, Ingrid E.; Specchio, Nicola Share Save
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy (vol 12, 92, 2019) Bai, Yun-Fei; Chiu, Michelle; Chan, Elizabeth S.; Axerio-Cilies, Peter; Lu, Jie; Huh, Linda; Connolly, Mary B.; Guella, Ilaria; Farrer, Matthew J.; Xu, Zhi-Qing David; Liu, Lidong; Demos, Michelle; Wang, Yu Tian Share Save
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy Bai, Yun-Fei; Chiu, Michelle; Chan, Elizabeth S.; Axerio-Cilies, Peter; Lu, Jie; Huh, Linda; Connolly, Mary B.; Guella, Ilaria; Farrer, Matthew J.; Xu, Zhi-Qing David; Liu, Lidong; Demos, Michelle; Wang, Yu Tian Share Save
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges Elliott, Alison M.; du Souich, Christele; Lehman, Anna; Guella, Ilaria; Evans, Daniel M.; Candido, Tara; Tooman, Leah; Armstrong, Linlea; Clarke, Lorne; Gibson, William; Gill, Harinder; Lavoie, Pascal M.; Lewis, Suzanne; McKinnon, Margaret L.; Nikkel, Sarah M.; Patel, Millan; Solimano, Alfonso; Synnes, Anne; Ting, Joseph; van Allen, Margot; Christilaw, Jan; Farrer, Matthew J.; Friedman, Jan M.; Osiovich, Horacio Share Save
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Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy Lehman, Anna; Thouta, Samrat; Mancini, Grazia M. S.; Van Slegtenhorst, Marjon; Naidu, Sakkubai; Desai, Sonal; McWalter, Kirsty; Person, Richard; Mwenifumbo, Jill; Salvarinova, Ramona; Guella, Ilaria; McKenzie, Marna B.; Farrer, Matthew J.; Datta, Anita; Connolly, Mary B.; Demos, Michelle; Kalkhoran, Somayeh Mojard; Poburko, Damon; Friedman, Jan M.; Claydon, Thomas Share Save
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Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency Asselta, Rosanna; Plate, Manuela; Robusto, Michela; Borhany, Munira; Guella, Ilaria; Solda, Giulia; Afrasiabi, Abdolreza; Menegatti, Marzia; Shamsi, Tahir; Peyvandi, Flora; Duga, Stefano Share Save
DNAJC12 and dopa-responsive nonprogressive parkinsonism Straniero, Letizia; Guella, Ilaria; Cilia, Roberto; Parkkinen, Laura; Rimoldi, Valeria; Young, Alexander; Asselta, Rosanna; Solda, 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 Share Save
An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2 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 Share Save
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy Guella, Ilaria; McKenzie, Marna B.; Evans, Daniel M.; Buerki, Sarah E.; Toyota, Eric B.; Van Allen, Margot I.; Suri, Mohnish; Elmslie, Frances; Simon, Marleen E. H.; van Gassen, Koen L. I.; Heron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B.; Demos, Michelle; Farrer, Matthew J. Share Save
SCA2 family presenting as typical Parkinson's disease: 34 year follow up Kim, Young Eun; Jeon, Beomseok; Farrer, Matthew J.; Scott, Erika; Guella, Ilaria; Park, Sung Sup; Kim, Jong Min; Park, Hye Young; Kim, Aryun; Son, Young Don; Cho, Zang Hee Share Save
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy Lehman, Anna; Thouta, Samrat; Mancini, Grazia M. S.; Naidu, Sakkubai; van Slegtenhorst, Marjon; McWalter, Kirsty; Person, Richard; Mwenifumbo, Jill; Salvarinova, Ramona; 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 Share Save
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DCTNI p.K56R in progressive supranuclear palsy Gustavsson, Emil K.; Trinh, Joanne; Guella, Ilaria; Szu-Tu, Chelsea; Khinda, Jaskaran; Lin, Chin-Hsien; Wu, Ruey-Meei; Stoessl, Jon; Appel-Cresswell, Silke; McKeown, Martin; Rajput, Alex; Rajput, Ali H.; Petersen, Maria Skaalum; Jeon, Beom S.; Aasly, Jan O.; Farrer, Matthew J. Share Save
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