Lista de obras -

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

artículo científico publicado en 2020

Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion

artículo científico publicado en 2001

Cytogenetic study of the induction mechanism of chromosome-type aberrations by 1-beta-D-arabinofuranosylcytosine

artículo científico publicado en 2007

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

artículo científico publicado en 2009

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

artículo científico publicado en 2018

Dscam is associated with axonal and dendritic features of neuronal cells.

artículo científico publicado en 2001

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

artículo científico publicado en 2011

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

artículo científico publicado en 2016

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

artículo científico publicado en 2009

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.

artículo científico publicado en 2014

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

artículo científico publicado en 2002

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

artículo científico publicado en 2009

Impaired cortico-striatal excitatory transmission triggers epilepsy

article

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

artículo científico publicado en 2006

Mutations in EFHC1 cause juvenile myoclonic epilepsy

artículo científico publicado en 2004

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

artículo científico publicado en 2005

Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes.

artículo científico publicado en 2015

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

scientific article published on 01 May 2008

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

artículo científico publicado en 2017

Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

artículo científico publicado en 2012

Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

artículo científico publicado en 2020

Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?

artículo científico publicado en 2013

Recent developments in the quest for myoclonic epilepsy genes.

artículo científico publicado en 2003

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia

artículo científico publicado en 2007

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

artículo científico publicado en 2003

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

artículo científico publicado en 2004

The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex.

artículo científico publicado en 2016

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.

artículo científico publicado en 2012

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

artículo científico publicado en 2018

[Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]

artículo científico publicado en 2002

Lista de obras de

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion

Cytogenetic study of the induction mechanism of chromosome-type aberrations by 1-beta-D-arabinofuranosylcytosine

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Dscam is associated with axonal and dendritic features of neuronal cells.

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

Impaired cortico-striatal excitatory transmission triggers epilepsy

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

Mutations in EFHC1 cause juvenile myoclonic epilepsy

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes.

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?

Recent developments in the quest for myoclonic epilepsy genes.

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex.

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

[Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]