Lista de obras -

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

artículo científico publicado en 2016

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

artículo científico publicado en 2013

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

artículo científico publicado en 2017

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

artículo científico publicado en 2015

Certainty of genuine treatment increases drug responses among intellectually disabled patients

artículo científico publicado en 2017

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings

artículo científico

Creatine and guanidinoacetate reference values in a French population

artículo científico publicado en 2013

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

artículo científico publicado en 2017

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation

artículo científico publicado en 2013

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

artículo científico publicado en 2011

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

artículo científico publicado en 2002

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

artículo científico publicado en 2003

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

artículo científico publicado en 2015

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

artículo científico publicado en 2010

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

artículo científico publicado en 2017

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

artículo científico publicado en 2008

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

artículo científico publicado en 2016

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

artículo científico publicado en 2014

Motor resonance facilitates movement execution: an ERP and kinematic study.

scientific article published on 15 October 2013

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Neural correlates of non-verbal social interactions: a dual-EEG study.

artículo científico publicado en 2013

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

artículo científico publicado en 2013

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

artículo científico publicado en 2017

PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.

artículo científico publicado en 2015

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

artículo científico publicado en 2009

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis

artículo científico publicado en 2015

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling

artículo científico publicado en 2012

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation

artículo científico publicado en 2013

Ring 14 chromosome presenting as early-onset isolated partial epilepsy

artículo científico publicado en 2009

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

artículo científico publicado en 2012

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

artículo científico publicado en 2012

Stroke by carotid artery complete occlusion in Kawasaki disease: case report and review of literature.

artículo científico publicado en 2013

Syntax at hand: common syntactic structures for actions and language

artículo científico publicado en 2013

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

artículo científico publicado en 2014

The challenges of clinical trials in fragile X syndrome

scientific article published on 31 October 2013

The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.

artículo científico publicado en 2014

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

artículo científico publicado en 2008

The three stages of epilepsy in patients with CDKL5 mutations

artículo científico publicado en 2008

Translating molecular advances in fragile X syndrome into therapy: a review

artículo científico

Type I hyperprolinemia: genotype/phenotype correlations

artículo científico publicado en 2010

Unexplained mental retardation: is brain MRI useful?

artículo científico publicado en 2005

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

artículo científico publicado en 2015

X-linked mental deficiency

artículo científico

Lista de obras de

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

Certainty of genuine treatment increases drug responses among intellectually disabled patients

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings

Creatine and guanidinoacetate reference values in a French population

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Motor resonance facilitates movement execution: an ERP and kinematic study.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Neural correlates of non-verbal social interactions: a dual-EEG study.

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation

Ring 14 chromosome presenting as early-onset isolated partial epilepsy

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Stroke by carotid artery complete occlusion in Kawasaki disease: case report and review of literature.

Syntax at hand: common syntactic structures for actions and language

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

The challenges of clinical trials in fragile X syndrome

The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

The three stages of epilepsy in patients with CDKL5 mutations

Translating molecular advances in fragile X syndrome into therapy: a review

Type I hyperprolinemia: genotype/phenotype correlations

Unexplained mental retardation: is brain MRI useful?

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

X-linked mental deficiency