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。Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing
Theodora U. J. Bruun et al.
GENETICS IN MEDICINE (2018)
GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS
Michaela Waak et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)
GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation
C. Michael Honey et al.
JOURNAL OF CHILD NEUROLOGY (2018)
No unexpected CRISPR-Cas9 off-target activity revealed by trio sequencing of gene-edited mice
Vivek Iyer et al.
PLOS GENETICS (2018)
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations
Huijie Feng et al.
NEUROLOGY (2017)
Expanding Phenotype of De Novo Mutations in GNAO1:Four New Cases and Review of Literature
David C. Schorling et al.
NEUROPEDIATRICS (2017)
Gαo (GNAO1) encephalopathies: plasma membrane vs. Golgi functions
Gonzalo P. Solis et al.
Oncotarget (2017)
Working memory, attention, and salience in active inference
Thomas Parr et al.
SCIENTIFIC REPORTS (2017)
GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome
Federica Rachele Danti et al.
NEUROLOGY-GENETICS (2017)
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
Hirotomo Saitsu et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation
Neil Kulkarni et al.
JOURNAL OF CHILD NEUROLOGY (2016)
Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis
Sanem Yilmaz et al.
CHILDS NERVOUS SYSTEM (2016)
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder
Leonie A. Menke et al.
JOURNAL OF CHILD NEUROLOGY (2016)
Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9
John G. Doench et al.
NATURE BIOTECHNOLOGY (2016)
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
Anna Marce-Grau et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder
Arnitha L. Ananth et al.
PEDIATRIC NEUROLOGY (2016)
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies
Pawel Gawlinski et al.
PEDIATRIC NEUROLOGY (2016)
Caspr3-Deficient Mice Exhibit Low Motor Learning during the Early Phase of the Accelerated Rotarod Task
Haruna Hirata et al.
PLOS ONE (2016)
Evaluation of off-target and on-target scoring algorithms and integration into the guide RNA selection tool CRISPOR
Maximilian Haeussler et al.
GENOME BIOLOGY (2016)
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy
Chun-Yiu Law et al.
CLINICA CHIMICA ACTA (2015)
Efficient CRISPR/Cas9-Mediated Genome Editing in Mice by Zygote Electroporation of Nuclease
Wenning Qin et al.
GENETICS (2015)
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Xiaolin Zhu et al.
GENETICS IN MEDICINE (2015)
Efficient CRISPR/Cas9-Mediated Genome Editing in Mice by Zygote Electroporation of Nuclease
Wenning Qin et al.
GENETICS (2015)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Silke Appenzeller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Sex differences in Parkinson's disease and other movement disorders
Kara M. Smith et al.
EXPERIMENTAL NEUROLOGY (2014)
Gain-of-function mutation in Gnao1: A murine model of epileptiform encephalopathy (EIEE17)?
Jason M. Kehrl et al.
MAMMALIAN GENOME (2014)
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
Kazuyuki Nakamura et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Increased gait variability in mice with small cerebellar cortex lesions and normal rotarod performance
Stijn Stroobants et al.
BEHAVIOURAL BRAIN RESEARCH (2013)
Engineering animal models of dystonia
Janneth Oleas et al.
MOVEMENT DISORDERS (2013)
Animal models for dystonia
Bethany K. Wilson et al.
MOVEMENT DISORDERS (2013)
DNA targeting specificity of RNA-guided Cas9 nucleases
Patrick D. Hsu et al.
NATURE BIOTECHNOLOGY (2013)
Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay
Stephen T. Hansen et al.
PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR (2013)
Measuring the Strength of Mice
Robert M. J. Deacon
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS (2013)
G(o) activation is required for both appetitive and aversive memory acquisition in Drosophila
Adrian Madalan et al.
LEARNING & MEMORY (2012)
Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia
Chang-Hyun Song et al.
NEUROBIOLOGY OF DISEASE (2012)
Xamoterol impairs hippocampus-dependent emotional memory retrieval via Gi/o-coupled β2-adrenergic signaling
Keith Schutsky et al.
LEARNING & MEMORY (2011)
Regulator of G Protein Signaling Protein Suppression of Gαo Protein-Mediated α2A Adrenergic Receptor Inhibition of Mouse Hippocampal CA3 Epileptiform Activity
Brianna L. Goldenstein et al.
MOLECULAR PHARMACOLOGY (2009)
Molecular Mechanisms of Go Signaling
Meisheng Jiang et al.
NEUROSIGNALS (2009)
Regulation of neurite outgrowth by Gi/o signaling pathways
Kenneth D. Bromberg et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2008)
Important role of matrix metalloproteinase 9 in epileptogenesis
Grzegorz M. Wilczynski et al.
JOURNAL OF CELL BIOLOGY (2008)
Behavioral deficits in the cuprizone-induced murine model of demyelination/remyelination
Neus Franco-Pons et al.
TOXICOLOGY LETTERS (2007)
Mammalian G proteins and their cell type specific functions
N Wettschureck et al.
PHYSIOLOGICAL REVIEWS (2005)
A transmembrane intracellular estrogen receptor mediates rapid cell signaling
CM Revankar et al.
SCIENCE (2005)
A syntaxin 1, Gαo, and N-type calcium channel complex at a presynaptic nerve terminal:: Analysis by quantitative immunocolocalization
Q Li et al.
JOURNAL OF NEUROSCIENCE (2004)
Are men at greater risk for Parkinson's disease than women?
GF Wooten et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)
Accelerated kindling development in μ-opioid receptor deficient mice
G Grecksch et al.
NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY (2004)
Sex dimorphisms in the neuroprotective effects of estrogen in an animal model of Parkinson's disease
GE Gillies et al.
PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR (2004)
Functional coupling of the human dopamine D2 receptor with Gαi1, Gαi2, Gαi3 and Gαo G proteins:: evidence for agonist regulation of G protein selectivity
L Gazi et al.
BRITISH JOURNAL OF PHARMACOLOGY (2003)
Gating properties of GIRK channels activated by Gαo- and Gαi-coupled muscarinic m2 receptors in Xenopus oocytes:: the role of receptor precoupling in RGS modulation
QL Zhang et al.
JOURNAL OF PHYSIOLOGY-LONDON (2002)
Preparation of PCR-quality mouse genomic DNA with hot sodium hydroxide and tris (HotSHOT)
GE Truett et al.
BIOTECHNIQUES (2000)
分享论文
