V. El Ghouzzi

发表

Molecular and cellular bases of syndromic craniosynostoses

J. Bonaventure, V. El Ghouzzi, Jacky Bonaventure, 2003, Expert Reviews in Molecular Medicine.

Golgipathies in Neurodevelopment: A New View of Old Defects

P. Gressens, A. Verloes, V. El Ghouzzi, 2019, Developmental Neuroscience.

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.

A. Munnich, S. Aresta, J. de Gunzburg, 2000, Human molecular genetics.

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

A. Munnich, R. Trembath, A. Verloes, 2003, Human molecular genetics.

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

P. Gressens, P. Milani, A. Afenjar, 2020, Journal of Medical Genetics.

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

V. El Ghouzzi, P. Marie, M. Yousfi, 2002, Human molecular genetics.

Cortical Organoids to Model Microcephaly

P. Gressens, V. El Ghouzzi, A. Baffet, 2022, Cells.

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

A. Munnich, J. Bonaventure, V. El Ghouzzi, 2001, FEBS letters.

Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication.

J. Bonaventure, V. El Ghouzzi, D. Rénier, 2000, American journal of medical genetics.

Golgi Dysfunctions in Ciliopathies

V. El Ghouzzi, J. Masson, 2022, Cells.

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

P. Gressens, J. Sibarita, P. Rustin, 2009, Human Molecular Genetics.

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

G. Collingridge, P. Gressens, S. Peineau, 2015, The Journal of Neuroscience.

A. Munnich, J. Bonaventure, V. El Ghouzzi, 1999, Journal of medical genetics.

HIP/PAP prevents excitotoxic neuronal death and promotes plasticity

P. Gressens, C. Bréchot, V. El Ghouzzi, 2014, Annals of clinical and translational neurology.

Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development

V. El Ghouzzi, Gaelle Boncompain, 2022, Nature Communications.

A Novel RAB33B Mutation in Smith–McCort Dysplasia

P. Gressens, V. El Ghouzzi, L. Graul-Neumann, 2013, Human mutation.

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

C. Verney, P. Gressens, A. Verloes, 2011, The Journal of clinical investigation.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

K. Devriendt, C. Woods, P. Gressens, 2018, Human mutation.

Stem cell therapy for neonatal brain injury: Perspectives and Challenges

P. Gressens, O. Baud, V. El Ghouzzi, 2011, Annals of neurology.

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

A. Munnich, J. Bonaventure, V. El Ghouzzi, 1996, Human molecular genetics.

STIL balancing primary microcephaly and cancer

P. Gressens, V. El Ghouzzi, S. Mani, 2018, Cell Death & Disease.

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

P. Gressens, P. Leroux, O. Baud, 2008, Proceedings of the National Academy of Sciences.

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

P. Bénit, P. Rustin, V. El Ghouzzi, 2005, Human molecular genetics.

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

K. Shirahige, T. Akiyama, P. Gressens, 2016, American journal of human genetics.

Craniosynostosis and fetal exposure to sodium valproate.

M. Bourgeois, V. El Ghouzzi, D. Rénier, 2001, Journal of neurosurgery.

Clinical variability in patients with Apert's syndrome.

M. Gonzalès, J. Bonaventure, V. El Ghouzzi, 1999, Journal of neurosurgery.

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

B. Harding, P. Gressens, F. Di Cunto, 2016, American journal of human genetics.

Conditional Induction of Math1 Specifies Embryonic Stem Cells to Cerebellar Granule Neuron Lineage and Promotes Differentiation into Mature Granule Neurons

P. Gressens, S. Peineau, V. El Ghouzzi, 2013, Stem cells.

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

M. Kumar, P. Gressens, S. Peineau, 2014, Annals of clinical and translational neurology.

Recent advances in Dyggve-Melchior-Clausen syndrome.

A. Munnich, V. El Ghouzzi, V. Cormier-Daire, 2004, Molecular genetics and metabolism.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

A. Munnich, A. Mégarbané, V. El Ghouzzi, 2002, Journal of medical genetics.

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

C. Verney, P. Gressens, P. Rustin, 2007, Journal of neuropathology and experimental neurology.

Endoplasmic reticulum and Golgi stress in microcephaly

P. Gressens, F. Perez, V. El Ghouzzi, 2019, Cell stress.

Activated Somatostatin Type 2 Receptors Traffic In Vivo in Central Neurons from Dendrites to the Trans Golgi Before Recycling

V. El Ghouzzi, Z. Csaba, P. Dournaud, 2007, Traffic.

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

V. Bours, A. Verloes, V. El Ghouzzi, 2019, European journal of medical genetics.

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

G. Ball, P. Gressens, F. Perez, 2015, Human molecular genetics.

Overlap between Baller-Gerold and Rothmund-Thomson syndrome.

A. Mégarbané, J. Loiselet, J. Bonaventure, 2000, Clinical dysmorphology.

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

P. Gressens, S. Peineau, V. El Ghouzzi, 2011, Stem cells and development.

STIL balancing primary microcephaly and cancer

P. Gressens, V. El Ghouzzi, S. Mani, 2018, Cell Death & Disease.

Neurological outcome in WDR62 primary microcephaly

S. Auvin, A. Verloes, V. El Ghouzzi, 2021, Developmental medicine and child neurology.

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

B. Ilharreborde, A. Verloes, V. El Ghouzzi, 2012, European journal of medical genetics.

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

C. Verney, P. Gressens, A. Verloes, 2011, The Journal of clinical investigation.

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

P. Gressens, J. Sibarita, P. Rustin, 2009, Human molecular genetics.