Lista de obras -

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

artículo científico publicado en 2015

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

scientific article published on 23 March 2007

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

artículo científico publicado en 2018

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association?

artículo científico publicado en 2012

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

artículo científico publicado en 2009

Antiglial cell autoantibodies and childhood epilepsy: a case report

artículo científico publicado en 2005

Ataxia with vitamin E deficiency and severe dystonia: report of a case

artículo científico publicado en 2003

Benefit of glucocorticosteroid in the routine therapy of bacterial meningitis in children

artículo científico publicado en 2006

Benign paroxysmal vertigo of childhood: Long-term outcome ⬇️

artículo científico publicado el 17 de septiembre de 2010

Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke

artículo científico publicado en 2008

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

artículo científico publicado en 2017

Cognitive impairment in children with CACNA1A mutations

artículo científico publicado en 2019

Congenital and infantile myotonic dystrophy

artículo científico

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion

artículo científico publicado en 2004

Dose-dependent effect of individualized respiratory muscle training in children with Duchenne muscular dystrophy

artículo científico publicado en 2002

Early onset collagen VI myopathies: Genetic and clinical correlations

artículo científico publicado en 2010

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

artículo científico publicado en 2004

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scholarly article published in European Journal of Human Genetics

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

artículo científico publicado en 2006

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

artículo científico publicado en 2018

Infectious and immunologic phenotype of MECP2 duplication syndrome

artículo científico publicado en 2015

Insights in Developmental Coordination Disorder

artículo científico publicado en 2017

Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family

artículo científico publicado en 2003

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke ⬇️

artículo científico publicado el 28 de noviembre de 2012

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

artículo científico publicado en 2015

Monoamine metabolism study in severe, early-onset epilepsy in childhood

artículo científico publicado en 2008

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

scientific article published on 15 September 2011

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

artículo científico publicado en 2002

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

artículo científico publicado en 2003

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

artículo científico publicado en 2011

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period

artículo científico publicado en 2007

Neurologic aspects of MECP2 gene duplication in male patients

artículo científico publicado en 2009

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

artículo científico publicado en 2014

Parry Romberg syndrome and linear scleroderma en coup de sabre mimicking Rasmussen encephalitis

scientific article published on 01 December 2007

Partial epilepsy and 47,XXX karyotype: report of four cases

artículo científico publicado en 2006

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency ⬇️

artículo científico publicado el 6 de mayo de 2003

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

artículo científico

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

artículo científico publicado en 2006

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

artículo científico publicado en 2015

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Study of clinical characteristics in young subjects with Developmental coordination disorder

artículo científico publicado en 2016

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

artículo científico publicado en 2004

Topiramate pharmacokinetics in children with epilepsy aged from 6 months to 4 years

artículo científico publicado en 2004

Type I hyperprolinemia: genotype/phenotype correlations

artículo científico publicado en 2010

Lista de obras de

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: a paraneoplastic association?

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

Antiglial cell autoantibodies and childhood epilepsy: a case report

Ataxia with vitamin E deficiency and severe dystonia: report of a case

Benefit of glucocorticosteroid in the routine therapy of bacterial meningitis in children

Benign paroxysmal vertigo of childhood: Long-term outcome ⬇️

Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Cognitive impairment in children with CACNA1A mutations

Congenital and infantile myotonic dystrophy

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion

Dose-dependent effect of individualized respiratory muscle training in children with Duchenne muscular dystrophy

Early onset collagen VI myopathies: Genetic and clinical correlations

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Infectious and immunologic phenotype of MECP2 duplication syndrome

Insights in Developmental Coordination Disorder

Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke ⬇️

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Monoamine metabolism study in severe, early-onset epilepsy in childhood

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period

Neurologic aspects of MECP2 gene duplication in male patients

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

Parry Romberg syndrome and linear scleroderma en coup de sabre mimicking Rasmussen encephalitis

Partial epilepsy and 47,XXX karyotype: report of four cases

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency ⬇️

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Study of clinical characteristics in young subjects with Developmental coordination disorder

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Topiramate pharmacokinetics in children with epilepsy aged from 6 months to 4 years

Type I hyperprolinemia: genotype/phenotype correlations