Lista de obras -

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

artículo científico publicado en 2012

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

artículo científico publicado en 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

artículo científico publicado en 2019

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

artículo científico publicado en 2018

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

artículo científico publicado en 2017

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

scientific article published on 21 September 2020

Does the radiographic transition zone correlate with the level of aganglionosis on the specimen in Hirschsprung’s disease? ⬇️

artículo científico publicado el 26 de abril de 2012

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

artículo científico publicado en 2018

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

artículo científico publicado en 2012

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

Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation ⬇️

artículo científico publicado el 23 de septiembre de 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

In Memoriam: Professor Emeritus Jean Montreuil (1920–2010). A Lifetime Dedicated to the Progress of Science and Education ⬇️

artículo científico publicado el 14 de enero de 2011

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

artículo científico publicado en 2009

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

scientific article published on 26 May 2020

MEF2C mutations are a rare cause of Rett or severe Rett‐like encephalopathies ⬇️

artículo científico publicado el 26 de marzo de 2012

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

artículo científico publicado en 2015

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

artículo científico publicado en 2013

Retinal involvement in two unrelated patients with Myhre syndrome ⬇️

artículo científico publicado el 7 de junio de 2012

The epileptology of GNB5 encephalopathy

scientific article published on 20 October 2019

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

artículo científico publicado en 2013

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

artículo científico publicado en 2016

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

artículo científico publicado en 2013

Lista de obras de

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

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

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Defining the phenotypic spectrum of SLC6A1 mutations

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

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

Does the radiographic transition zone correlate with the level of aganglionosis on the specimen in Hirschsprung’s disease? ⬇️

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

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

Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation ⬇️

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

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

In Memoriam: Professor Emeritus Jean Montreuil (1920–2010). A Lifetime Dedicated to the Progress of Science and Education ⬇️

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene

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

MEF2C mutations are a rare cause of Rett or severe Rett‐like encephalopathies ⬇️

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Retinal involvement in two unrelated patients with Myhre syndrome ⬇️

The epileptology of GNB5 encephalopathy

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation