Výsledky vyhledávání - Thomas D. Cushion
- Zobrazuji výsledky 1 - 10 z 10
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MAPping tubulin mutations Autor Thomas D. Cushion, Ines Leca, David A. Keays
Vydáno 2023Revisão -
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Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay Autor Rhys H. Thomas, Seo‐Kyung Chung, S. E. Wood, Thomas D. Cushion, Cheney Drew, Chrissy L. Hammond, Jean-François Vanbellinghen, Jonathan G.L. Mullins, Mark I. Rees
Vydáno 2013Artigo -
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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins Autor Ravinesh A. Kumar, Daniela T. Pilz, Timothy D. Babatz, Thomas D. Cushion, Kirsten Harvey, Maya Topf, Laura Yates, S. Robb, Gökhan Uyanık, G.M.S. Mancini, Mark I. Rees, Victoria L. Harvey, William B. Dobyns
Vydáno 2010Artigo -
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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy Autor Thomas D. Cushion, Alex R. Paciorkowski, Daniela T. Pilz, Jonathan G.L. Mullins, Laurie E. Seltzer, Robert W. Marion, Emily Tuttle, Dalia Ghoneim, Susan L. Christian, Seo‐Kyung Chung, Mark I. Rees, William B. Dobyns
Vydáno 2014Artigo -
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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Autor Thomas D. Cushion, William B. Dobyns, Jonathan G.L. Mullins, Neil Stoodley, Seo‐Kyung Chung, Andrew E. Fry, Ute Hehr, Roxana Gunny, Arthur S. Aylsworth, Prab Prabhakar, Gökhan Uyanık, Julia Rankin, Mark I. Rees, Daniela T. Pilz
Vydáno 2013Artigo -
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes Autor Renske Oegema, Thomas D. Cushion, Ian G. Phelps, Seo‐Kyung Chung, Jennifer C. Dempsey, Sarah Collins, Jonathan G.L. Mullins, Tracy Dudding, Harinder Gill, Andrew Green, William B. Dobyns, Gisele E. Ishak, Mark I. Rees, Dan Doherty
Vydáno 2015Artigo -
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The biophysical, molecular, and anatomical landscape of pigeon CRY4: A candidate light-based quantal magnetosensor Autor Tobias Hochstoeger, Tarek Al Said, Dante Maestre, Florian Walter, Alexandra Vilceanu, Miriam Pedron, Thomas D. Cushion, William D. Snider, Simon Nimpf, Grégory C. Nordmann, Lukas Landler, Nathaniel B. Edelman, Lennard Kruppa, Gerhard Dürnberger, Karl Mechtler, Stefan Schuechner, Egon Ogris, E. Pascal Malkemper, Stefan Weber, Erik Schleicher, David A. Keays
Vydáno 2020Artigo -
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GLRB is the third major gene of effect in hyperekplexia Autor Seo‐Kyung Chung, Anna Bode, Thomas D. Cushion, Rhys H. Thomas, Charlotte Hunt, S. E. Wood, William Owen Pickrell, Cheney Drew, Sumimasa Yamashita, Rita Shiang, Steffen Leiz, Ann-Carolyn Longhardt, Vera Raile, Bernhard Weschke, Ratna Dua Puri, I. C. Verma, Victoria L. Harvey, Didi D. Ratnasinghe, Michael Parker, Chris Rittey, Amira Masri, Lokesh Lingappa, Owain W. Howell, Jean-François Vanbellinghen, Jonathan G.L. Mullins, Joseph W. Lynch, Mark I. Rees
Vydáno 2012Artigo -
10
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria Autor Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A.N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo‐Kyung Chung, Mark I. Rees, Chirag Patel, Louise Brueton, Valérie Layet, Fabienne Giuliano, Michael Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman‐Sagie, Katherine L. Helbig, Laura H. Kofman, Kristin Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A. Swanger, Gil Shaulsky, Ghayda Mirzaa, Alison M. Muir, Heather C. Mefford, William B. Dobyns, Amanda B. Mackenzie, Jonathan G.L. Mullins, Johannes R. Lemke, Nadia Bahi‐Buisson, Stephen F. Traynelis, Heledd F Iago, Daniela T. Pilz
Vydáno 2017Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Mutation
Lissencephaly
Neuroscience
Epilepsy
Medicine
Microtubule
Phenotype
Polymicrogyria
Tubulin
Amino acid
Computer science
Cortical dysplasia
Endocrinology
Glycine
Glycine receptor
Internal medicine
Missense mutation
Pachygyria
Anatomy
Anesthesia
BETA (programming language)
Cell biology
Cerebellar hypoplasia (non-human)
Cerebellum
Clonazepam
Computational biology
Dynein