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List of works by Robert J. Harvey

A Selective Role for alpha3 Subunit Glycine Receptors in Inflammatory Pain

scientific article published on 4 November 2009

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

scientific article

A canine BCAN microdeletion associated with episodic falling syndrome

scientific article published on 28 July 2011

A critical role for glycine transporters in hyperexcitability disorders

scientific article

A new mechanism for cannabidiol in regulating the one-carbon cycle and methionine levels in Dictyostelium and in mammalian epilepsy models

scientific article published on 03 January 2020

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

scientific article

A novel invertebrate GABAA receptor-like polypeptide. Sequence and pattern of gene expression.

scientific article

A novel movement disorder in related male Labrador Retrievers characterized by extreme generalized muscular stiffness.

scientific article published on 22 July 2011

A proposed structural basis for picrotoxinin and picrotin binding in the glycine receptor pore

article

A revised nomenclature for the human and rodent alpha-tubulin gene family

scientific article published in June 2007

ACR-3, a Caenorhabditis elegans nicotinic acetylcholine receptor subunit. Molecular cloning and functional expression.

scientific article published in January 1997

Acetazolamide-responsive paroxysmal dyskinesia in a 12-week-old female golden retriever dog.

scientific article published on 24 November 2015

Achieving optimal expression for single channel recording: a plasmid ratio approach to the expression of alpha 1 glycine receptors in HEK293 cells

scientific article published in January 2002

Alpha2-Containing Glycine Receptors Promote Neonatal Spontaneous Activity of Striatal Medium Spiny Neurons and Support Maturation of Glutamatergic Inputs

scientific article published on 15 October 2018

Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress

scientific article published on July 2006

Alternative splicing of a 51-nucleotide exon that encodes a putative protein kinase C phosphorylation site generates two forms of the chicken gamma-aminobutyric acidA receptor beta 2 subunit.

scientific article published in January 1994

An N-terminal histidine regulates Zn(2+) inhibition on the murine GABA(A) receptor beta3 subunit

scientific article published on September 2002

Analysis of GABAA receptor subunit genes in multiplex pedigrees with manic depression

article

Antibodies to aquaporin 4, myelin-oligodendrocyte glycoprotein, and the glycine receptor α1 subunit in patients with isolated optic neuritis

scientific article

Audiogenic reflex seizures in cats

scientific article

Audiogenic reflex seizures in cats

scientific article published on 01 November 2013

Cerebral Cortical Circuitry Formation Requires Functional Glycine Receptors

scientific article

Channel gating in the absence of agonist by a homooligomeric molluscan GABA receptor expressed inXenopus oocytes from a cloned cDNA ⬇️

scientific article published on December 1, 1995

Channels formed by M2 peptides of a putative glutamate receptor subunit of locust.

scientific article published on January 1993

Chicken GABA(A) receptor beta4 subunits form robust homomeric GABA-gated channels in Xenopus oocytes.

scientific article published in August 1998

Clinical and Immunologic Investigations in Patients With Stiff-Person Spectrum Disorder

scientific article published on 11 April 2016

Cloning of a cDNA that encodes an invertebrate glutamate receptor subunit ⬇️

scientific article published on November 4, 1991

Cloning of genomic and cDNA sequences encoding an invertebrate γ-aminobutyric acidAreceptor subunit

scientific article published on 01 June 1990

Clueless/CLUH regulates mitochondrial fission by promoting recruitment of Drp1 to mitochondria

scientific article published on 24 March 2022

Complex role of collybistin and gephyrin in GABAA receptor clustering

scientific article

Conservation of gamma-aminobutyric acid type A receptor alpha 6 subunit gene expression in cerebellar granule cells.

scientific article

Control of Inhibition by the Direct Action of Cannabinoids on GABAA Receptors

scientific article published on 18 March 2014

Control of ethanol sensitivity of the glycine receptor α3 subunit by transmembrane 2, the intracellular splice cassette and C-terminal domains

scientific article

Corrigendum to “A revised nomenclature for the human and rodent α-tubulin gene family” [Genomics 90 (2007) 285–289]

scientific article published in April 2009

Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression.

scientific article published in September 2013

Defective glycinergic synaptic transmission in zebrafish motility mutants

scientific article

Developmental up-regulation and agonist-dependent down-regulation of GABAA receptor subunit mRNAs in chick cortical neurons

scientific article published in October 1994

Differential agonist sensitivity of glycine receptor alpha2 subunit splice variants

scientific article

Differential patterns of expression of two novel invertebrate (Lymnaea stagnalis) ionotropic glutamate receptor genes

article

Differential regulation of the postsynaptic clustering of γ-aminobutyric acid type A (GABAA) receptors by collybistin isoforms

scientific article

Dihydropyridine inhibition of the glycine receptor: subunit selectivity and a molecular determinant of inhibition

scientific article

Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties

scientific article published on 6 March 2018

Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease

scientific article published on 19 July 2017

Distinct Mechanisms of Pathogenic DJ-1 Mutations in Mitochondrial Quality Control

scientific article published on 15 March 2018

Distinct phenotypes in zebrafish models of human startle disease

scientific article published on 09 September 2013

Distinct synaptic localization patterns of brefeldin A-resistant guanine nucleotide exchange factors BRAG2 and BRAG3 in the mouse retina

scientific article

Diversity of glycine receptors in the mouse retina: localization of the alpha2 subunit

scientific article

Diversity of glycine receptors in the mouse retina: localization of the alpha3 subunit

scientific article published in October 2003

Diversity of glycine receptors in the mouse retina: localization of the alpha4 subunit

scientific article published in February 2007

Duplicated gephyrin genes showing distinct tissue distribution and alternative splicing patterns mediate molybdenum cofactor biosynthesis, glycine receptor clustering, and escape behavior in zebrafish

scientific article

Editorial: Molecular, Cellular and Model Organism Approaches for Understanding the Basis of Neurological Disease

scientific article published on 20 March 2017

Epicatechin gallate, a naturally occurring polyphenol, alters the course of infection with β-lactam-resistant Staphylococcus aureus in the zebrafish embryo

scientific article

Ethanol consumption and sedation are altered in mice lacking the glycine receptor α2 subunit

scientific article published on 20 May 2020

Expression of the GABAA receptor γ4‐subunit gene: anatomical distribution of the corresponding mRNA in the domestic chick forebrain and the effect of imprinting training ⬇️

scientific article published on September 1, 1998

Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review

scientific article

Frontiers in molecular neuroscience - résumé and perspective

scientific article

Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.

scientific article

GABA-, Glycine-, and Glutamate-Gated Channels and Their Possible Involvement in Neurological and Psychiatric Illness

GLRB is the third major gene of effect in hyperekplexia.

scientific article published on 25 November 2012

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

scientific article

Genes for the GABAA receptor subunit types and their expression

scientific article published on January 1, 1992

Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism

scientific article published on 15 September 2015

Gephyrin: where do we stand, where do we go?

scientific article

GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization

scientific article published on May 2004

Glycine Receptors

article from 2001

Glycine Receptors in Cultured Chick Sympathetic Neurons are Excitatory and Trigger Neurotransmitter Release

article

Glycine and glycine receptor signalling in non-neuronal cells.

scientific article published on 20 August 2009

Glycine as a Neurotransmitter

scholarly article published 19 April 2001

Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype

scientific article

Glycine receptor α2 subunit activation promotes cortical interneuron migration

scientific article published on 15 August 2013

Glycine receptors containing the alpha4 subunit in the embryonic sympathetic nervous system, spinal cord and male genital ridge

scientific journal article

Glycine receptors control the generation of projection neurons in the developing cerebral cortex

scientific article

Glycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain

scientific article

Glycinergic transmission in the Mammalian retina

scientific article published on 9 July 2009

Glycinergic transmission: physiological, developmental and pathological implications ⬇️

scientific article published on August 19, 2010

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

scientific article

Highly effective SNP-based association mapping and management of recessive defects in livestock

scientific article

Hyperekplexia: Stiffness, startle and syncope

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

article

Identification of an inhibitory Zn2+ binding site on the human glycine receptor alpha1 subunit.

scientific article published on October 1999

Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom.

scientific article published on 19 September 2011

In situ hybridization and reverse transcription--polymerase chain reaction studies on the expression of the GABA(C) receptor rho1- and rho2-subunit genes in avian and rat brain.

scientific article published in November 1997

In situ hybridization localization of the GABAA receptor beta 2S- and beta 2L-subunit transcripts reveals cell-specific splicing of alternate cassette exons.

scientific article

Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis

scientific article published on 2 May 2017

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

scientific article (publication date: 4 July 2003)

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

scientific article

Levetiracetam in the management of feline audiogenic reflex seizures: a randomised, controlled, open-label study

Localization of rat glycine receptor ?1 and ?2 subunit transcripts in the developing auditory brainstem

article

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

scientific article

Molecular Characterisation and Functional Expression of Molluscan Ion-Channel Receptors That Can Be Activated By Either γ-Aminobutyric Acid or L-Glutamate

article published in 1993

Molecular basis of the γ-aminobutyric acid A receptor α3 subunit interaction with the clustering protein gephyrin

scientific journal article

Molecular cloning reveals the existence of a fourth gamma subunit of the vertebrate brain GABAA receptor.

scientific article

Molecular determinants of glycine receptor alphabeta subunit sensitivities to Zn2+-mediated inhibition

scientific article published on 19 May 2005

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease

scientific article published on April 2012

Molluscan ligand-gated ion-channel receptors.

scientific article

Multifunctional basic motif in the glycine receptor intracellular domain induces subunit-specific sorting

scientific article

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

scientific article

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

scientific article

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

scientific article

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

scientific article

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

scientific article

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)

scientific article (publication date: 2016)

Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin

scientific article

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

scientific article published on 10 December 2012

Opioid receptors from a lower vertebrate (Catostomus commersoni): sequence, pharmacology, coupling to a G-protein-gated inward-rectifying potassium channel (GIRK1), and evolution.

scientific article

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

scientific article

Phenotypic characterisation of canine epileptoid cramping syndrome in the Border terrier

scientific article

Plasticity of synaptic inhibition in mouse spinal cord lamina II neurons during early postnatal development and after inactivation of the glycine receptor alpha3 subunit gene.

scientific article

RNA editing produces glycine receptor alpha3(P185L), resulting in high agonist potency

scientific article published on 15 May 2005

Random-primed cDNA synthesis facilitates the isolation of multiple 5'-cDNA ends by RACE.

scientific article

Reliable and accurate sequencing of lambda, cosmid and P1 DNAs using modified dye terminator reaction parameters

Scottie cramp and canine epileptoid cramping syndrome in Border terriers ⬇️

scientific article published on 01 February 2012

Selective localization of collybistin at a subset of inhibitory synapses in brain circuits

scientific article

Sequence of a Drosophila ligand-gated ion-channel polypeptide with an unusual amino-terminal extracellular domain.

scientific article published on June 1994

Sequence of a functional invertebrate GABAA receptor subunit which can form a chimeric receptor with a vertebrate alpha subunit ⬇️

scientific article published on November 1, 1991

Serotonin receptor 1A-modulated dephosphorylation of glycine receptor α3: a new molecular mechanism of breathing control for compensation of opioid-induced respiratory depression without loss of analgesia

scientific article published in June 2011

Serotonin receptor 1A-modulated phosphorylation of glycine receptor α3 controls breathing in mice

scientific article published on 11 October 2010

Spinal prostaglandin E receptors of the EP2 subtype and the glycine receptor α3 subunit, which mediate central inflammatory hyperalgesia, do not contribute to pain after peripheral nerve injury or formalin injection

article

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

scientific article

Structure and functions of inhibitory and excitatory glycine receptors.

scientific article

Structure and pharmacological properties of a molluscan glutamate-gated cation channel and its likely role in feeding behavior.

scientific article published in May 1996

Structure, assembly and targeting of glycine receptors

Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function

scientific article

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses

scientific article published on 31 January 2018

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

scientific article

Subunit-specific modulation of glycine receptors by cannabinoids and N-arachidonyl-glycine.

scientific article published on 7 August 2008

SynArfGEF is a guanine nucleotide exchange factor for Arf6 and localizes preferentially at post-synaptic specializations of inhibitory synapses

scientific journal article

Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition

scientific article

TSPO interacts with VDAC1 and triggers a ROS-mediated inhibition of mitochondrial quality control

scientific journal article

The Clinical and Serological Effect of a Gluten-Free Diet in Border Terriers with Epileptoid Cramping Syndrome.

scientific article published on 25 October 2015

The cell adhesion molecule neurofascin stabilizes axo-axonic GABAergic terminals at the axon initial segment

scientific article

The genetics of hyperekplexia: more than startle!

scientific article published on 15 August 2008

The glycinergic system in human startle disease: a genetic screening approach

scientific article

The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.

scientific article

Tonically Active α2 Subunit-Containing Glycine Receptors Regulate the Excitability of Striatal Medium Spiny Neurons

scientific article published in January 2017

Unusual effects of benzodiazepines and cyclodiene insecticides on an expressed invertebrate GABAA receptor

scientific article published in August 1992

Zinc-mediated inhibition of GABA(A) receptors: discrete binding sites underlie subtype specificity

scientific article

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