Lista de obras -

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas

artículo científico publicado en 2016

Adult-onset temporal lobe epilepsy suspicious for autoimmune pathogenesis: Autoantibody prevalence and clinical correlates

artículo científico publicado en 2020

Analyses of the spatiotemporal expression and subcellular localization of liprin‐α proteins ⬇️

artículo científico publicado el 15 de octubre de 2011

Analysis of RIM Expression and Function at Mouse Photoreceptor Ribbon Synapses.

artículo científico publicado en 2017

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Anti-epileptogenic and Anti-convulsive Effects of Fingolimod in Experimental Temporal Lobe Epilepsy

artículo científico publicado en 2018

Array analysis of epilepsy-associated gangliogliomas reveals expression patterns related to aberrant development of neuronal precursors

artículo científico publicado en 2008

Astrocyte Intermediaries of Septal Cholinergic Modulation in the Hippocampus

artículo científico publicado en 2016

Author Correction: Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR

scientific article published on 01 April 2019

Autoantibodies to Munc18, cerebral plasma cells and B-lymphocytes in Rasmussen encephalitis

artículo científico publicado en 2008

CD8<sup>+</sup> T-lymphocyte driven limbic encephalitis results in temporal lobe epilepsy

artículo científico publicado en 2020

CRISPR/Cas9 Delivery Potentials in Alzheimer's Disease Management: A Mini Review

artículo científico publicado en 2020

Calcium Channel Subunit α2δ4 Is Regulated by Early Growth Response 1 and Facilitates Epileptogenesis

scientific article published on 21 February 2019

Circadian clustering of spontaneous epileptic seizures emerges after pilocarpine-induced status epilepticus

artículo científico

Corrigendum to “Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue” [Brain Res. 1499 (2013) 136–144]

scholarly article by Katharina Pernhorst et al published March 2014 in Brain Research

Cryo-electron tomography reveals a critical role of RIM1α in synaptic vesicle tethering

artículo científico publicado en 2013

Deletion of CASK in mice is lethal and impairs synaptic function

artículo científico publicado en 2007

Dendritic structural degeneration is functionally linked to cellular hyperexcitability in a mouse model of Alzheimer's disease

artículo científico publicado en 2014

Development of In Vivo Imaging Tools for Investigating Astrocyte Activation in Epileptogenesis

artículo científico publicado en 2017

Differential Pi3K-pathway activation in cortical tubers and focal cortical dysplasias with balloon cells

artículo científico publicado en 2007

Differential mRNA expression patterns of the synaptotagmin gene family in the rodent brain

artículo científico publicado en 2009

Downregulation of Spermine Augments Dendritic Persistent Sodium Currents and Synaptic Integration after Status Epilepticus.

artículo científico publicado en 2015

Drebrin Autoantibodies in Patients with Seizures and Suspected Encephalitis

scientific article published on 20 March 2020

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness

artículo científico publicado en 2020

Gene expression variance in hippocampal tissue of temporal lobe epilepsy patients corresponds to differential memory performance.

artículo científico publicado en 2015

Genetic evidence for a protein-kinase-A-mediated presynaptic component in NMDA-receptor-dependent forms of long-term synaptic potentiation

artículo científico publicado en 2005

Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam

artículo científico publicado en 2012

Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus

artículo científico publicado en 2017

Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro

artículo científico publicado en 2009

Identification of Synaptotagmin 10 as Effector of NPAS4-Mediated Protection from Excitotoxic Neurodegeneration.

artículo científico publicado en 2016

Investigation of GRIN2A in common epilepsy phenotypes

artículo científico publicado en 2015

LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization

scientific journal article

Large-scale analysis of viral nucleic acid spectrum in temporal lobe epilepsy biopsies

artículo científico publicado en 2014

Levetiracetam resistance: Synaptic signatures & corresponding promoter SNPs in epileptic hippocampi

artículo científico publicado en 2013

Loss of metabotropic glutamate receptor-dependent long-term depression via downregulation of mGluR5 after status epilepticus

artículo científico publicado en 2007

Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.

artículo científico publicado en 2016

Molecular imaging reveals epileptogenic Ca2+-channel promoter activation in hippocampi of living mice

artículo científico publicado en 2014

Molecular neuropathology of temporal lobe epilepsy: complementary approaches in animal models and human disease tissue

artículo científico publicado en 2007

Multiple roles for the active zone protein RIM1alpha in late stages of neurotransmitter release

artículo científico publicado en 2004

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

artículo científico publicado en 2014

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

scientific journal article

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

artículo científico publicado en 2016

New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules

artículo científico publicado en 2019

Phosphorylation of RIM1α by PKA Triggers Presynaptic Long-Term Potentiation at Cerebellar Parallel Fiber Synapses ⬇️

artículo científico publicado el 3 de octubre de 2003

Presence of human herpes virus 6 DNA exclusively in temporal lobe epilepsy brain tissue of patients with history of encephalitis

artículo científico publicado en 2010

Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi.

artículo científico publicado en 2011

Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.

artículo científico publicado en 2018

Publisher Correction: Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR

artículo científico publicado en 2019

RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone

artículo científico publicado en 2002

RIM1alpha is required for presynaptic long-term potentiation

scientific journal article

RIM2α is a molecular scaffold for Zona pellucida-induced acrosome reaction

scientific article published on 19 September 2014

RIM3γ and RIM4γ Are Key Regulators of Neuronal Arborization ⬇️

artículo científico publicado el 9 de enero de 2013

Rab Interacting Molecules 2 and 3 Directly Interact with the Pore-Forming CaV1.3 Ca2+ Channel Subunit and Promote Its Membrane Expression.

artículo científico publicado en 2017

Rab3-interacting molecules 2α and 2β promote the abundance of voltage-gated CaV1.3 Ca2+ channels at hair cell active zones

artículo científico publicado en 2015

Redundant functions of RIM1alpha and RIM2alpha in Ca(2+)-triggered neurotransmitter release

artículo científico publicado en 2006

Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue.

artículo científico publicado en 2013

Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR

artículo científico publicado en 2018

Ste20-like Kinase Is Critical for Inhibitory Synapse Maintenance and Its Deficiency Confers a Developmental Dendritopathy

artículo científico publicado en 2021

Synaptobrevin is essential for fast synaptic-vesicle endocytosis

artículo científico publicado en 2004

Synergy of direct and indirect cholinergic septo-hippocampal pathways coordinates firing in hippocampal networks

artículo científico publicado en 2015

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

artículo científico publicado en 2015

TLR4, ATF-3 and IL8 inflammation mediator expression correlates with seizure frequency in human epileptic brain tissue

artículo científico publicado en 2013

Temporal lobe epilepsy: a unique window into living human brain epigenetic gene regulation

artículo científico publicado en 2015

The Presynaptic Active Zone Protein RIM1α Controls Epileptogenesis following Status Epilepticus ⬇️

artículo científico publicado el 5 de septiembre de 2012

The circadian dynamics of the hippocampal transcriptome and proteome is altered in experimental temporal lobe epilepsy

artículo científico publicado en 2020

The presynaptic active zone protein RIM1alpha is critical for normal learning and memory

artículo científico publicado en 2004

The presynaptic active zone: A dynamic scaffold that regulates synaptic efficacy

artículo científico publicado en 2015

The temporal profile of activity-dependent presynaptic phospho-signalling reveals long-lasting patterns of poststimulus regulation

artículo científico publicado en 2019

Transcriptional regulation of T-type calcium channel CaV3.2: bi-directionality by early growth response 1 (Egr1) and repressor element 1 (RE-1) protein-silencing transcription factor (REST).

artículo científico publicado en 2012

Transcriptional upregulation of Cav3.2 mediates epileptogenesis in the pilocarpine model of epilepsy.

artículo científico publicado en 2008

Tritium-labeled brivaracetam with high specific activity: preparation, characterization and application in human brain samples.

artículo científico publicado en 2012

Tuning local calcium availability: cell-type-specific immobile calcium buffer capacity in hippocampal neurons.

artículo científico publicado en 2013

Zinc regulates a key transcriptional pathway for epileptogenesis via metal-regulatory transcription factor 1.

artículo científico publicado en 2015

Lista de obras de

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas

Adult-onset temporal lobe epilepsy suspicious for autoimmune pathogenesis: Autoantibody prevalence and clinical correlates

Analyses of the spatiotemporal expression and subcellular localization of liprin‐α proteins ⬇️

Analysis of RIM Expression and Function at Mouse Photoreceptor Ribbon Synapses.

Analysis of shared heritability in common disorders of the brain

Anti-epileptogenic and Anti-convulsive Effects of Fingolimod in Experimental Temporal Lobe Epilepsy

Array analysis of epilepsy-associated gangliogliomas reveals expression patterns related to aberrant development of neuronal precursors

Astrocyte Intermediaries of Septal Cholinergic Modulation in the Hippocampus

Author Correction: Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR

Autoantibodies to Munc18, cerebral plasma cells and B-lymphocytes in Rasmussen encephalitis

CD8<sup>+</sup> T-lymphocyte driven limbic encephalitis results in temporal lobe epilepsy

CRISPR/Cas9 Delivery Potentials in Alzheimer's Disease Management: A Mini Review

Calcium Channel Subunit α2δ4 Is Regulated by Early Growth Response 1 and Facilitates Epileptogenesis

Circadian clustering of spontaneous epileptic seizures emerges after pilocarpine-induced status epilepticus

Corrigendum to “Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue” [Brain Res. 1499 (2013) 136–144]

Cryo-electron tomography reveals a critical role of RIM1α in synaptic vesicle tethering

Deletion of CASK in mice is lethal and impairs synaptic function

Dendritic structural degeneration is functionally linked to cellular hyperexcitability in a mouse model of Alzheimer's disease

Development of In Vivo Imaging Tools for Investigating Astrocyte Activation in Epileptogenesis

Differential Pi3K-pathway activation in cortical tubers and focal cortical dysplasias with balloon cells

Differential mRNA expression patterns of the synaptotagmin gene family in the rodent brain

Downregulation of Spermine Augments Dendritic Persistent Sodium Currents and Synaptic Integration after Status Epilepticus.

Drebrin Autoantibodies in Patients with Seizures and Suspected Encephalitis

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness

Gene expression variance in hippocampal tissue of temporal lobe epilepsy patients corresponds to differential memory performance.

Genetic evidence for a protein-kinase-A-mediated presynaptic component in NMDA-receptor-dependent forms of long-term synaptic potentiation

Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam

Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus

Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro

Identification of Synaptotagmin 10 as Effector of NPAS4-Mediated Protection from Excitotoxic Neurodegeneration.

Investigation of GRIN2A in common epilepsy phenotypes

LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization

Large-scale analysis of viral nucleic acid spectrum in temporal lobe epilepsy biopsies

Levetiracetam resistance: Synaptic signatures & corresponding promoter SNPs in epileptic hippocampi

Loss of metabotropic glutamate receptor-dependent long-term depression via downregulation of mGluR5 after status epilepticus

Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.

Molecular imaging reveals epileptogenic Ca2+-channel promoter activation in hippocampi of living mice

Molecular neuropathology of temporal lobe epilepsy: complementary approaches in animal models and human disease tissue

Multiple roles for the active zone protein RIM1alpha in late stages of neurotransmitter release

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules

Phosphorylation of RIM1α by PKA Triggers Presynaptic Long-Term Potentiation at Cerebellar Parallel Fiber Synapses ⬇️

Presence of human herpes virus 6 DNA exclusively in temporal lobe epilepsy brain tissue of patients with history of encephalitis

Promoter variants determine γ-aminobutyric acid homeostasis-related gene transcription in human epileptic hippocampi.

Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.

Publisher Correction: Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR

RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone

RIM1alpha is required for presynaptic long-term potentiation

RIM2α is a molecular scaffold for Zona pellucida-induced acrosome reaction

RIM3γ and RIM4γ Are Key Regulators of Neuronal Arborization ⬇️

Rab Interacting Molecules 2 and 3 Directly Interact with the Pore-Forming CaV1.3 Ca2+ Channel Subunit and Promote Its Membrane Expression.

Rab3-interacting molecules 2α and 2β promote the abundance of voltage-gated CaV1.3 Ca2+ channels at hair cell active zones

Redundant functions of RIM1alpha and RIM2alpha in Ca(2+)-triggered neurotransmitter release

Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue.

Stability, affinity, and chromatic variants of the glutamate sensor iGluSnFR

Ste20-like Kinase Is Critical for Inhibitory Synapse Maintenance and Its Deficiency Confers a Developmental Dendritopathy

Synaptobrevin is essential for fast synaptic-vesicle endocytosis

Synergy of direct and indirect cholinergic septo-hippocampal pathways coordinates firing in hippocampal networks

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

TLR4, ATF-3 and IL8 inflammation mediator expression correlates with seizure frequency in human epileptic brain tissue

Temporal lobe epilepsy: a unique window into living human brain epigenetic gene regulation

The Presynaptic Active Zone Protein RIM1α Controls Epileptogenesis following Status Epilepticus ⬇️

The circadian dynamics of the hippocampal transcriptome and proteome is altered in experimental temporal lobe epilepsy

The presynaptic active zone protein RIM1alpha is critical for normal learning and memory

The presynaptic active zone: A dynamic scaffold that regulates synaptic efficacy

The temporal profile of activity-dependent presynaptic phospho-signalling reveals long-lasting patterns of poststimulus regulation

Transcriptional regulation of T-type calcium channel CaV3.2: bi-directionality by early growth response 1 (Egr1) and repressor element 1 (RE-1) protein-silencing transcription factor (REST).

Transcriptional upregulation of Cav3.2 mediates epileptogenesis in the pilocarpine model of epilepsy.

Tritium-labeled brivaracetam with high specific activity: preparation, characterization and application in human brain samples.

Tuning local calcium availability: cell-type-specific immobile calcium buffer capacity in hippocampal neurons.

Zinc regulates a key transcriptional pathway for epileptogenesis via metal-regulatory transcription factor 1.