标题
GLRB is the third major gene of effect in hyperekplexia
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 22, Issue 5, Pages 927-940
出版商
Oxford University Press (OUP)
发表日期
2012-11-27
DOI
10.1093/hmg/dds498
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia
- (2013) S.-K. Chung et al. JOURNAL OF NEUROSCIENCE
- Stoichiometry and Subunit Arrangement of α1β Glycine Receptors As Determined by Atomic Force Microscopy
- (2012) Zhe Yang et al. BIOCHEMISTRY
- Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
- (2012) Eloisa Carta et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Splice-specific Glycine Receptor Binding, Folding, and Phosphorylation of the Scaffolding Protein Gephyrin
- (2012) Jens Herweg et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The 1K276E Startle Disease Mutation Reveals Multiple Intermediate States in the Gating of Glycine Receptors
- (2012) R. Lape et al. JOURNAL OF NEUROSCIENCE
- De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features
- (2011) Gaetan Lesca et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mechanism of action of the insecticides, lindane and fipronil, on glycine receptor chloride channels
- (2011) Robiul Islam et al. BRITISH JOURNAL OF PHARMACOLOGY
- Novel mutation in GLRB in a large family with hereditary hyperekplexia
- (2011) M Al-Owain et al. CLINICAL GENETICS
- A GPHN point mutation leading to molybdenum cofactor deficiency
- (2011) J Reiss et al. CLINICAL GENETICS
- Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
- (2011) Keiko Shimojima et al. JOURNAL OF HUMAN GENETICS
- Principles of activation and permeation in an anion-selective Cys-loop receptor
- (2011) Ryan E. Hibbs et al. NATURE
- β Subunit M2–M3 Loop Conformational Changes Are Uncoupled from α1 β Glycine Receptor Channel Gating: Implications for Human Hereditary Hyperekplexia
- (2011) Qiang Shan et al. PLoS One
- Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
- (2010) Jochen Reiss et al. HUMAN MUTATION
- Identifying and prioritising epilepsy treatment uncertainties
- (2010) R. H. Thomas et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- GABAergic and glycinergic interneuron expression during spinal cord development: Dynamic interplay between inhibition and excitation in the control of ventral network outputs
- (2009) Sara Sibilla et al. PROGRESS IN NEUROBIOLOGY
- A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation
- (2008) Vera M. Kalscheuer et al. HUMAN MUTATION
- The genetics of hyperekplexia: more than startle!
- (2008) Robert J. Harvey et al. TRENDS IN GENETICS
- Gephyrin: where do we stand, where do we go?
- (2008) Jean-Marc Fritschy et al. TRENDS IN NEUROSCIENCES
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started