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List of works by Vincent El Ghouzzi

A new lysosomal storage disorder resembling Morquio syndrome in sibs

scientific article published on 25 January 2012

A novel RAB33B mutation in Smith-McCort dysplasia

scientific article

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

scientific article published on 27 July 2016

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

scientific article published on 31 October 2015

Activated somatostatin type 2 receptors traffic in vivo in central neurons from dendrites to the trans Golgi before recycling

scientific article

Apoptosis-Inducing Factor Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

article published in 2007

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Clinical variability in patients with Apert's syndrome

scientific article published in March 1999

Conditional induction of Math1 specifies embryonic stem cells to cerebellar granule neuron lineage and promotes differentiation into mature granule neurons

scientific article published on April 2013

Craniosynostosis and fetal exposure to sodium valproate ⬇️

scientific article published on November 1, 2001

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia

scientific article published in March 2006

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

scientific article published on 4 February 2015

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

scientific article

Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

scientific article published on May 2005

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

scientific article published on 01 April 2000

Golgipathies in Neurodevelopment: A New View of Old Defects

scientific article published on 01 January 2018

HIP/PAP prevents excitotoxic neuronal death and promotes plasticity

scientific article

Implanted neurosphere-derived precursors promote recovery after neonatal excitotoxic brain injury

scientific article published on 16 January 2011

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

scientific article

Molecular and cellular bases of syndromic craniosynostoses

scientific article published on 29 January 2003

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

scientific article published in March 2006

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

scientific article

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome

scientific article published on 01 March 2001

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

scientific article published in January 1999

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

scientific article published on 01 October 2000

Recent advances in Dyggve-Melchior-Clausen syndrome

scientific article published in September 2004

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

scientific article published on January 1999

Stem cell therapy for neonatal brain injury: perspectives and challenges

scientific article

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

scientific article

Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures.

scientific article

Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation

article

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling

scientific journal article

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

scientific article published on 14 June 2019

Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits.

scholarly article

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

scientific article (publication date: 27 October 2016)

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