Lista de obras -

A novel exon 3 mutation in a Tunisian patient with Lafora's disease ⬇️

artículo científico publicado el 3 de marzo de 2011

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

artículo científico publicado en 2017

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

artículo científico publicado en 2019

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

artículo científico publicado en 2020

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Distinct neurological disorders with ATP1A3 mutations

artículo científico publicado en 2014

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

artículo científico publicado en 2020

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

FXTAS: new insights and the need for revised diagnostic criteria

artículo científico publicado en 2012

Functional variants of POC5 identified in patients with idiopathic scoliosis

artículo científico publicado en 2015

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

artículo científico publicado en 2022

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

artículo científico publicado en 2017

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

artículo científico publicado en 2017

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

artículo científico publicado en 2022

Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association

scientific article published on 01 February 2007

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2018

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

artículo científico publicado en 2002

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

artículo científico publicado en 2019

Missense variant contribution to USP9X-female syndrome

artículo científico publicado en 2020

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

artículo científico publicado en 2017

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

artículo científico publicado en 2020

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

artículo científico publicado en 2020

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

artículo científico publicado en 2015

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

artículo científico publicado en 2021

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

artículo científico publicado en 2017

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

scientific article published on 21 October 2020

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).

artículo científico publicado en 2007

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

scientific article published on 22 September 2020

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

artículo científico publicado en 2013

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

artículo científico publicado en 2016

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

artículo científico publicado en 2017

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

artículo científico publicado en 2021

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum

artículo científico publicado en 2011

Lista de obras de

A novel exon 3 mutation in a Tunisian patient with Lafora's disease ⬇️

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Clinical spectrum of STX1B-related epileptic disorders.

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Correction: The landscape of epilepsy-related GATOR1 variants

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Defining the phenotypic spectrum of SLC6A1 mutations

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

Distinct neurological disorders with ATP1A3 mutations

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

FXTAS: new insights and the need for revised diagnostic criteria

Functional variants of POC5 identified in patients with idiopathic scoliosis

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

Lessons learned from 40 novel PIGA patients and a review of the literature

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Missense variant contribution to USP9X-female syndrome

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families

The landscape of epilepsy-related GATOR1 variants

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum