Lista de obras -

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

artículo científico publicado en 2017

A top-down linguistic approach to the analysis of genomic sequences: The metabotropic glutamate receptors 1 and 5 in human and in mouse as a case study.

artículo científico publicado en 2010

A versatile clearing agent for multi-modal brain imaging

artículo científico publicado en 2015

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

artículo científico publicado en 2011

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

artículo científico publicado en 2018

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

artículo científico publicado en 2016

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

artículo científico publicado en 2014

C620R mutation of the murineret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes

article

Computer-based automatic identification of neurons in gigavoxel-sized 3D human brain images

artículo científico publicado en 2015

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms

artículo científico publicado en 2010

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

artículo científico publicado en 2018

Expression of Tsga10 sperm tail protein in embryogenesis and neural development: from cilium to cell division

scientific journal article

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

artículo científico publicado en 2014

Genetic Basis of Brain Malformations

artículo científico publicado en 2016

Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia

scientific article published on 10 May 2019

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

artículo científico publicado en 2016

International consensus recommendations on the diagnostic work-up for malformations of cortical development

artículo científico publicado en 2020

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic <i>MTOR</i> Mutations Always a Unilateral Disorder?

publication published on 08 December 2020

Low-copy repeats on chromosome 22q11.2 show replication timing switches, DNA flexibility peaks and stress inducible asynchrony, sharing instability features with fragile sites

artículo científico

Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.

artículo científico publicado en 2017

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

artículo científico publicado en 2019

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

artículo científico publicado en 2017

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

artículo científico publicado en 2015

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

artículo científico publicado en 2012

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings

artículo científico publicado en 2008

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

Lista de obras de

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A top-down linguistic approach to the analysis of genomic sequences: The metabotropic glutamate receptors 1 and 5 in human and in mouse as a case study.

A versatile clearing agent for multi-modal brain imaging

Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

C620R mutation of the murineret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes

Computer-based automatic identification of neurons in gigavoxel-sized 3D human brain images

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

Expression of Tsga10 sperm tail protein in embryogenesis and neural development: from cilium to cell division

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

Genetic Basis of Brain Malformations

Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic <i>MTOR</i> Mutations Always a Unilateral Disorder?

Low-copy repeats on chromosome 22q11.2 show replication timing switches, DNA flexibility peaks and stress inducible asynchrony, sharing instability features with fragile sites

Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings

The landscape of epilepsy-related GATOR1 variants