Lista de obras -

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity

artículo científico publicado en 2007

A SCN10A SNP biases human pain sensitivity

artículo científico publicado en 2016

A case of inherited erythromelalgia

artículo científico publicado en 2007

A channelopathy contributes to cerebellar dysfunction in a model of multiple sclerosis.

artículo científico publicado en 2012

A new Nav1.7 mutation in an erythromelalgia patient ⬇️

artículo científico publicado el 30 de enero de 2013

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

artículo científico publicado en 2010

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia

artículo científico publicado en 2009

A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation.

artículo científico publicado en 2008

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

artículo científico publicado en 2006

A sodium channel gene SCN9A polymorphism that increases nociceptor excitability

artículo científico publicado en 2009

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

artículo científico publicado en 2010

Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation.

artículo científico publicado en 2018

Building sensory axons: Delivery and distribution of NaV1.7 channels and effects of inflammatory mediators

artículo científico publicado en 2019

CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8

scientific journal article

COL6A5 variants in familial neuropathic chronic itch.

artículo científico publicado en 2017

Calmodulin regulates current density and frequency-dependent inhibition of sodium channel Nav1.8 in DRG neurons

artículo científico publicado en 2006

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

artículo científico publicado en 2014

Characterization of small fiber pathology in a mouse model of Fabry disease

artículo científico publicado en 2018

Conditional knockout of NaV1.6 in adult mice ameliorates neuropathic pain.

artículo científico publicado en 2018

Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface

artículo científico publicado en 2004

Contactin regulates the current density and axonal expression of tetrodotoxin-resistant but not tetrodotoxin-sensitive sodium channels in DRG neurons

scientific journal article

Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy

artículo científico publicado en 2015

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP ⬇️

artículo científico publicado el 23 de febrero de 2012

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal article

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

artículo científico publicado en 2011

Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.

artículo científico publicado en 2014

Differential modulation of sodium channel Na(v)1.6 by two members of the fibroblast growth factor homologous factor 2 subfamily

artículo científico publicado en 2006

Diverse functions and dynamic expression of neuronal sodium channels

artículo científico publicado el 1 de enero de 2002

Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.

artículo científico publicado en 2014

ERK1/2 mitogen-activated protein kinase phosphorylates sodium channel Na(v)1.7 and alters its gating properties

artículo científico publicado en 2010

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation

artículo científico publicado en 2009

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

artículo científico publicado en 2004

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

artículo científico publicado en 2009

Erythromelalgia: a hereditary pain syndrome enters the molecular era.

artículo científico publicado en 2005

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels

artículo científico publicado en 2009

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

artículo científico publicado en 2016

Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons

artículo científico publicado en 2004

From genes to pain: Na v 1.7 and human pain disorders

artículo científico publicado en 2007

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.

artículo científico publicado en 2012

Functional role of the C-terminus of voltage-gated sodium channel Na(v)1.8.

artículo científico publicado en 2004

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

artículo científico publicado en 2011

Gain-of-function Nav1.8 mutations in painful neuropathy.

artículo científico publicado en 2012

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy

artículo científico publicado en 2014

Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons

artículo científico publicado en 2015

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy

artículo científico publicado en 2006

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

artículo científico publicado en 2008

Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b

scientific journal article

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

artículo científico publicado en 2011

Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

artículo científico publicado en 2018

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

artículo científico publicado en 2008

Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B

artículo científico publicado en 2003

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade

artículo científico publicado en 2008

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders

artículo científico publicado en 2010

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

artículo científico publicado en 2006

NaN/Nav1.9: a sodium channel with unique properties

artículo científico publicado en 2002

Nav1.7 is the predominant sodium channel in rodent olfactory sensory neurons

artículo científico publicado en 2011

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

artículo científico publicado en 2016

Nav1.8 expression is not restricted to nociceptors in mouse peripheral nervous system

artículo científico publicado en 2012

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

artículo científico publicado en 2017

Nonmuscle myosin II isoforms interact with sodium channel alpha subunits

artículo científico publicado en 2018

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy

artículo científico publicado en 2011

Oral administration of PF-01247324, a subtype-selective Nav1.8 blocker, reverses cerebellar deficits in a mouse model of multiple sclerosis

artículo científico publicado en 2015

PKCε phosphorylation of the sodium channel NaV1.8 increases channel function and produces mechanical hyperalgesia in mice.

artículo científico publicado en 2012

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

artículo científico publicado en 2008

Pharmacological characterisation of the highly NaV1.7 selective spider venom peptide Pn3a

artículo científico publicado en 2017

Phosphorylation of sodium channel Na(v)1.8 by p38 mitogen-activated protein kinase increases current density in dorsal root ganglion neurons

artículo científico publicado en 2008

Preferential targeting of Nav1.6 voltage-gated Na+ Channels to the axon initial segment during development

artículo científico publicado en 2015

Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp

scientific article published on 20 November 2018

Screening fluorescent voltage indicators with spontaneously spiking HEK cells

artículo científico publicado en 2013

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating

artículo científico publicado en 2006

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

artículo científico publicado en 2012

Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

artículo científico publicado en 2013

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

artículo científico publicado en 2014

Sodium channels in normal and pathological pain

artículo científico publicado en 2010

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

artículo científico publicado en 2006

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.

artículo científico publicado en 2012

Structure of the sodium channel gene SCN11A: evidence for intron-to-exon conversion model and implications for gene evolution

artículo científico publicado en 2002

Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release

artículo científico publicado en 2016

Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7

artículo científico publicado en 2007

The AMPK Activator A769662 Blocks Voltage-Gated Sodium Channels: Discovery of a Novel Pharmacophore with Potential Utility for Analgesic Development

artículo científico publicado en 2017

The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.

artículo científico publicado en 2015

The G1662S NaV1.8 mutation in small fibre neuropathy: impaired inactivation underlying DRG neuron hyperexcitability

artículo científico publicado en 2013

The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking

artículo científico publicado en 2009

Transfection of rat or mouse neurons by biolistics or electroporation

artículo científico publicado en 2009

Two Nedd4-binding motifs underlie modulation of sodium channel Nav1.6 by p38 MAPK.

artículo científico publicado en 2010

Voltage-gated sodium channel Nav1.6 is modulated by p38 mitogen-activated protein kinase.

artículo científico publicado en 2005

Voltage-gated sodium channels in pain states: role in pathophysiology and targets for treatment

artículo científico publicado en 2008

Lista de obras de

A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity

A SCN10A SNP biases human pain sensitivity

A case of inherited erythromelalgia

A channelopathy contributes to cerebellar dysfunction in a model of multiple sclerosis.

A new Nav1.7 mutation in an erythromelalgia patient ⬇️

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia

A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation.

A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons

A sodium channel gene SCN9A polymorphism that increases nociceptor excitability

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia

Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation.

Building sensory axons: Delivery and distribution of NaV1.7 channels and effects of inflammatory mediators

CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8

COL6A5 variants in familial neuropathic chronic itch.

Calmodulin regulates current density and frequency-dependent inhibition of sodium channel Nav1.8 in DRG neurons

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Characterization of small fiber pathology in a mouse model of Fabry disease

Conditional knockout of NaV1.6 in adult mice ameliorates neuropathic pain.

Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface

Contactin regulates the current density and axonal expression of tetrodotoxin-resistant but not tetrodotoxin-sensitive sodium channels in DRG neurons

Contactin-1 and Neurofascin-155/-186 Are Not Targets of Auto-Antibodies in Multifocal Motor Neuropathy

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP ⬇️

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.

Differential modulation of sodium channel Na(v)1.6 by two members of the fibroblast growth factor homologous factor 2 subfamily

Diverse functions and dynamic expression of neuronal sodium channels

Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.

ERK1/2 mitogen-activated protein kinase phosphorylates sodium channel Na(v)1.7 and alters its gating properties

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation

Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

Erythromelalgia: a hereditary pain syndrome enters the molecular era.

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons

From genes to pain: Na v 1.7 and human pain disorders

Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.

Functional role of the C-terminus of voltage-gated sodium channel Na(v)1.8.

Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy

Gain-of-function Nav1.8 mutations in painful neuropathy.

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy

Human Na(v)1.8: enhanced persistent and ramp currents contribute to distinct firing properties of human DRG neurons

Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B

Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders

Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.

NaN/Nav1.9: a sodium channel with unique properties

Nav1.7 is the predominant sodium channel in rodent olfactory sensory neurons

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

Nav1.8 expression is not restricted to nociceptors in mouse peripheral nervous system

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Nonmuscle myosin II isoforms interact with sodium channel alpha subunits

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy

Oral administration of PF-01247324, a subtype-selective Nav1.8 blocker, reverses cerebellar deficits in a mouse model of multiple sclerosis

PKCε phosphorylation of the sodium channel NaV1.8 increases channel function and produces mechanical hyperalgesia in mice.

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

Pharmacological characterisation of the highly NaV1.7 selective spider venom peptide Pn3a

Phosphorylation of sodium channel Na(v)1.8 by p38 mitogen-activated protein kinase increases current density in dorsal root ganglion neurons

Preferential targeting of Nav1.6 voltage-gated Na+ Channels to the axon initial segment during development

Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp

Screening fluorescent voltage indicators with spontaneously spiking HEK cells

Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating

Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.

Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons.

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

Sodium channels in normal and pathological pain

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.

Structure of the sodium channel gene SCN11A: evidence for intron-to-exon conversion model and implications for gene evolution

Subtype-Selective Small Molecule Inhibitors Reveal a Fundamental Role for Nav1.7 in Nociceptor Electrogenesis, Axonal Conduction and Presynaptic Release

Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7