Novel missense mutations in the glycine receptor β subunit gene ( GLRB ) in startle disease
James, Victoria M, Bode, Anna, Chung, Seo-Kyung, Gill, Jennifer L, Nielsen, Maartje, Cowan, Frances M, Vujic, Mihailo, Thomas, Rhys H, Rees, Mark I, Harvey, Kirsten, Keramidas, Angelo, Topf, Maya, Ginjaar, Ieke, Lynch, Joseph W, Harvey, Robert J
Published in Neurobiology of disease (01.04.2013)
Published in Neurobiology of disease (01.04.2013)
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Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
Carta, Eloisa, Chung, Seo-Kyung, James, Victoria M., Robinson, Angela, Gill, Jennifer L., Remy, Nathalie, Vanbellinghen, Jean-François, Drew, Cheney J.G., Cagdas, Sophie, Cameron, Duncan, Cowan, Frances M., Del Toro, Mireria, Graham, Gail E., Manzur, Adnan Y., Masri, Amira, Rivera, Serge, Scalais, Emmanuel, Shiang, Rita, Sinclair, Kate, Stuart, Catriona A., Tijssen, Marina A.J., Wise, Grahame, Zuberi, Sameer M., Harvey, Kirsten, Pearce, Brian R., Topf, Maya, Thomas, Rhys H., Supplisson, Stéphane, Rees, Mark I., Harvey, Robert J.
Published in The Journal of biological chemistry (17.08.2012)
Published in The Journal of biological chemistry (17.08.2012)
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Journal Article
Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses
Leacock, Sophie, Syed, Parnayan, James, Victoria M, Bode, Anna, Kawakami, Koichi, Keramidas, Angelo, Suster, Maximiliano, Lynch, Joseph W, Harvey, Robert J
Published in Frontiers in molecular neuroscience (31.01.2018)
Published in Frontiers in molecular neuroscience (31.01.2018)
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Distinct phenotypes in zebrafish models of human startle disease
Ganser, Lisa R, Yan, Qing, James, Victoria M, Kozol, Robert, Topf, Maya, Harvey, Robert J, Dallman, Julia E
Published in Neurobiology of disease (01.12.2013)
Published in Neurobiology of disease (01.12.2013)
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Journal Article
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism
Long, Philip, May, Melanie M, James, Victoria M, Grannò, Simone, Johnson, John P, Tarpey, Patrick, Stevenson, Roger E, Harvey, Kirsten, Schwartz, Charles E, Harvey, Robert J
Published in Frontiers in molecular neuroscience (20.01.2016)
Published in Frontiers in molecular neuroscience (20.01.2016)
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Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family
Kalscheuer, Vera M, James, Victoria M, Himelright, Miranda L, Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A, Topf, Maya, Hoogeboom, A Jeannette M, Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J
Published in Frontiers in molecular neuroscience (11.01.2016)
Published in Frontiers in molecular neuroscience (11.01.2016)
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GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy
Lemke, Johannes R., Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J., James, Victoria M., Pepler, Alex, Steiner, Isabelle, Hörtnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah
Published in Annals of neurology (01.01.2014)
Published in Annals of neurology (01.01.2014)
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A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2
Giménez, Cecilio, Pérez-Siles, Gonzalo, Martínez-Villarreal, Jaime, Arribas-González, Esther, Jiménez, Esperanza, Núñez, Enrique, de Juan-Sanz, Jaime, Fernández-Sánchez, Enrique, García-Tardón, Noemí, Ibáñez, Ignacio, Romanelli, Valeria, Nevado, Julián, James, Victoria M., Topf, Maya, Chung, Seo-Kyung, Thomas, Rhys H., Desviat, Lourdes R., Aragón, Carmen, Zafra, Francisco, Rees, Mark I., Lapunzina, Pablo, Harvey, Robert J., López-Corcuera, Beatriz
Published in The Journal of biological chemistry (17.08.2012)
Published in The Journal of biological chemistry (17.08.2012)
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Journal Article
Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease
James, Victoria M., Gill, Jennifer L., Topf, Maya, Harvey, Robert J.
Published in Biological chemistry (01.04.2012)
Published in Biological chemistry (01.04.2012)
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Journal Article
Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism
Pilorge, M, Fassier, C, Le Corronc, H, Potey, A, Bai, J, De Gois, S, Delaby, E, Assouline, B, Guinchat, V, Devillard, F, Delorme, R, Nygren, G, Råstam, M, Meier, J C, Otani, S, Cheval, H, James, V M, Topf, M, Dear, T N, Gillberg, C, Leboyer, M, Giros, B, Gautron, S, Hazan, J, Harvey, R J, Legendre, P, Betancur, C
Published in Molecular psychiatry (01.07.2016)
Published in Molecular psychiatry (01.07.2016)
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Journal Article
Gwinnett Opinions: VOICE OF GWINNETT: Are schools responsive? Depends on whom you ask: Home Edition
DAVID DAWSON, ALFRED M. OTTIMO, JAMES VAN VALKENBURG, VICTORIA SAHO, ROBERT CARROLL, JOY GAYTON, ANNETTE JARRETT, GERALD NIDY
Published in The Atlanta journal-constitution (2001) (29.02.2004)
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Published in The Atlanta journal-constitution (2001) (29.02.2004)
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