Works matching AU El Ghouzzi, Vincent

Results: 26

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

Published in:

Journal of Neuroscience, 2015, v. 35, n. 34, p. 11960, doi. 10.1523/JNEUROSCI.0476-15.2015

By:

De Bundel, Dimitri;
Fafouri, Assia;
Csaba, Zsolt;
Loyens, Ellen;
Lebon, Sophie;
Ghouzzi, Vincent El;
Peineau, Stéphane;
Vodjdani, Guilan;
Kiagiadaki, Foteini;
Aourz, Najat;
Coppens, Jessica;
Walrave, Laura;
Portelli, Jeanelle;
Vanderheyden, Patrick;
Siew Yeen Chai;
Thermos, Kyriaki;
Bernard, Véronique;
Collingridge, Graham;
Auvin, Stéphane;
Gressens, Pierre

Publication type:

Article

Neurological outcome in WDR62 primary microcephaly.

Published in:

Developmental Medicine & Child Neurology, 2022, v. 64, n. 4, p. 509, doi. 10.1111/dmcn.15060

By:

Ruaud, Lyse;
Drunat, Séverine;
Elmaleh‐Bergès, Monique;
Ernault, Anais;
Guilmin Crepon, Sophie;
El Ghouzzi, Vincent;
Auvin, Stéphane;
Verloes, Alain;
Passemard, Sandrine;
Van Maldergem, Lionel;
Engel, Camille;
Altuzarra, Cecilia;
Lamidieu, Charlie;
Bayat, Allan;
Moortgat, Stéphanie;
Pelc, Karine;
Maystadt, Isabelle;
Abramowicz, Marc;
Pirson, Isabelle;
Duerinckx, Sarah

Publication type:

Article

A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects.

Published in:

Life Science Alliance, 2025, v. 8, n. 4, p. 1, doi. 10.26508/lsa.202403065

By:

Lebon, Sophie;
Bruneel, Arnaud;
Drunat, Severine;
Albert, Alexandra;
Csaba, Zsolt;
Elmaleh, Monique;
Ntorkou, Alexandra;
Tenier, Yann;
Fenaille, François;
Gressens, Pierre;
Passemard, Sandrine;
Boespflug-Tanguy, Odile;
Dorboz, Imen;
El Ghouzzi, Vincent

Publication type:

Article

Golgi Dysfunctions in Ciliopathies.

Published in:

Cells (2073-4409), 2022, v. 11, n. 18, p. N.PAG, doi. 10.3390/cells11182773

By:

Masson, Justine;
El Ghouzzi, Vincent

Publication type:

Article

Cortical Organoids to Model Microcephaly.

Published in:

Cells (2073-4409), 2022, v. 11, n. 14, p. N.PAG, doi. 10.3390/cells11142135

By:

Farcy, Sarah;
Albert, Alexandra;
Gressens, Pierre;
Baffet, Alexandre D.;
El Ghouzzi, Vincent

Publication type:

Article

Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly.

Published in:

Cells (2073-4409), 2021, v. 10, n. 5, p. 1209, doi. 10.3390/cells10051209

By:

Heide, Michael;
Huttner, Wieland B.;
Ghouzzi, Vincent El

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 3, p. 289, doi. 10.1038/sj.ejhg.5201558

By:

Lajeunie, Elisabeth;
Heuertz, Solange;
El Ghouzzi, Vincent;
Martinovic, Jelena;
Renier, Dominique;
Le Merrer, Martine;
Bonaventure, Jacky

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339

By:

Geneviève, David;
Héron, Delphine;
El Ghouzzi, Vincent;
Prost-Squarcioni, Catherine;
Le Merrer, Martine;
Jacquette, Aurélia;
Sanlaville, Damien;
Pinton, Florence;
Villeneuve, Nathalie;
Kalifa, Gabriel;
Munnich, Arnold;
Cormier-Daire, Valérie

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 1, p. 27, doi. 10.1038/sj.ejhg.5200240

By:

El Ghouzzi, Vincent;
Lajeunie, Elisabeth;
Le Merrer, Martine;
Cormier-Daire, Valérie;
Renier, Dominique;
Munnich, Arnold;
Bonaventure, Jacky

Publication type:

Article

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

Published in:

2011

By:

Passemard, Sandrine;
El Ghouzzi, Vincent;
Nasser, Hala;
Verney, Catherine;
Vodjdani, Guilan;
Lacaud, Adrien;
Lebon, Sophie;
Laburthe, Marc;
Robberecht, Patrick;
Nardelli, Jeannette;
Mani, Shyamala;
Verloes, Alain;
Gressens, Pierre;
Lelièvre, Vincent;
Lelièvre, Vincent

Publication type:

journal article

Golgipathies in Neurodevelopment: A New View of Old Defects.

Published in:

Developmental Neuroscience, 2018, v. 40, n. 5/6, p. 396, doi. 10.1159/000497035

By:

Rasika, Sowmyalakshmi;
Passemard, Sandrine;
Verloes, Alain;
Gressens, Pierre;
El Ghouzzi, Vincent

Publication type:

Article

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

Published in:

Traffic, 2007, v. 8, n. 7, p. 820, doi. 10.1111/j.1600-0854.2007.00580.x

By:

Csaba, Zsolt;
Lelouvier, Benjamin;
Viollet, Cécile;
El Ghouzzi, Vincent;
Toyama, Kiyoko;
Videau, Catherine;
Bernard, Véronique;
Dournaud, Pascal

Publication type:

Article

Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3263, doi. 10.1093/hmg/ddi359

By:

Brière, Jean-Jacques;
Favier, Judith;
Bénit, Paule;
Ghouzzi, Vincent El;
Lorenzato, Annalisa;
Rabier, Daniel;
Di Renzo, Maria Flavia;
Gimenez-Roqueplo, Anne-Paule;
Rustin, Pierre

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2003, v. 12, n. 3, p. 357, doi. 10.1093/hmg/ddg029

By:

El Ghouzzi, Vincent;
Dagoneau, Nathalie;
Kinning, Esther;
Thauvin-Robinet, Christel;
Chemaitilly, Wassim;
Prost-Squarcioni, Catherine;
Al-Gazali, Lihadh I.;
Verloes, Alain;
Le Merrer, Martine;
Munnich, Arnold;
Trembath, Richard C.;
Cormier-Daire, Valérie

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2000, v. 9, n. 5, p. 813, doi. 10.1093/hmg/9.5.813

By:

El Ghouzzi, Vincent

Publication type:

Article

Craniosynostosis and fetal exposure to sodium valproate.

Published in:

Journal of Neurosurgery, 2001, v. 95, n. 5, p. 778

By:

LAJEUNIE, ELIZABETH;
BARCIK, ULI;
THORNE, JOHN A.;
EL GHOUZZI, VINCENT;
BOURGEOIS, MARIE;
RENIER, DOMINIQUE

Publication type:

Article

Stem cell therapy for neonatal brain injury: Perspectives and Challenges.

Published in:

Annals of Neurology, 2011, v. 70, n. 5, p. 698, doi. 10.1002/ana.22518

By:

Titomanlio, Luigi;
Kavelaars, Annemieke;
Dalous, Jeremie;
Mani, Shyamala;
El Ghouzzi, Vincent;
Heijnen, Cobi;
Baud, Olivier;
Gressens, Pierre

Publication type:

Article

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 968, doi. 10.1002/acn3.137

By:

Kumar, Manoj;
Csaba, Zsolt;
Peineau, Stéphane;
Srivastava, Rupali;
Rasika, Sowmyalakshmi;
Mani, Shyamala;
Gressens, Pierre;
El Ghouzzi, Vincent

Publication type:

Article

HIP/PAP prevents excitotoxic neuronal death and promotes plasticity.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 10, p. 739, doi. 10.1002/acn3.127

By:

Haldipur, Parthiv;
Dupuis, Nina;
Degos, Vincent;
Moniaux, Nicolas;
Chhor, Vibol;
Rasika, Sowmyalakshmi;
Schwendimann, Leslie;
Charpentier, Tifenn;
Rougier, Elodie;
Amouyal, Paul;
Amouyal, Gilles;
Dournaud, Pascal;
Bréchot, Christian;
El Ghouzzi, Vincent;
Faivre, Jamila;
Fleiss, Bobbi;
Mani, Shyamala;
Gressens, Pierre

Publication type:

Article

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

Published in:

Stem Cells, 2013, v. 31, n. 4, p. 652, doi. 10.1002/stem.1295

By:

SRI VASTAVA, RUPALI;
KuMAR, MANOJ;
PEINEAU, STÉPHANE;
CSABA, ZSOLT;
MANI, SHYAMALA;
GRESSENS, PIERRE;
EL GHOUZZI, VINCENT

Publication type:

Article

A Novel RAB33B Mutation in Smith- Mc Cort Dysplasia.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 283, doi. 10.1002/humu.22235

By:

Dupuis, Nina;
Lebon, Sophie;
Kumar, Manoj;
Drunat, Séverine;
Graul‐Neumann, Luitgard M.;
Gressens, Pierre;
El Ghouzzi, Vincent

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2009, v. 18, n. 9, p. 1714, doi. 10.1093/hmg/ddp062

By:

Dimitrov, Ariane;
Paupe, Vincent;
Gueudry, Charles;
Sibarita, Jean-Baptiste;
Raposo, Graça;
Vielemeyer, Ole;
Gilbert, Thierry;
Csaba, Zsolt;
Attie-Bitach, Tania;
Cormier-Daire, Valérie;
Gressens, Pierre;
Rustin, Pierre;
Perez, Franck;
El Ghouzzi, Vincent

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2009, v. 18, n. 3, p. 440, doi. 10.1093/hmg/ddn371

By:

Dimitrov, Ariane;
Paupe, Vincent;
Gueudry, Charles;
Sibarita, Jean-Baptiste;
Raposo, Graça;
Vielemeyer, Ole;
Gilbert, Thierry;
Csaba, Zsolt;
Attie-Bitach, Tania;
Cormier-Daire, Valérie;
Gressens, Pierre;
Rustin, Pierre;
Perez, Franck;
El Ghouzzi, Vincent

Publication type:

Article

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

Published in:

2018

By:

El Ghouzzi, Vincent;
Bianchi, Federico T.;
Molineris, Ivan;
Mounce, Bryan C.;
Berto, Gaia E.;
Rak, Malgorzata;
Lebon, Sophie;
Aubry, Laetitia;
Tocco, Chiara;
Gai, Marta;
Chiotto, Alessandra M. A.;
Sgrò, Francesco;
Pallavicini, Gianmarco;
Simon-Loriere, Etienne;
Passemard, Sandrine;
Vignuzzi, Marco;
Gressens, Pierre;
Di Cunto, Ferdinando

Publication type:

Correction Notice

STIL balancing primary microcephaly and cancer.

Published in:

Cell Death & Disease, 2018, v. 9, n. 2, p. 1, doi. 10.1038/s41419-017-0101-9

By:

Patwardhan, Dhruti;
Mani, Shyamala;
Passemard, Sandrine;
Gressens, Pierre;
El Ghouzzi, Vincent

Publication type:

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.

Published in:

Cell Death & Disease, 2017, v. 8, n. 1, p. e2567, doi. 10.1038/cddis.2016.446

By:

Ghouzzi, Vincent El;
Bianchi, Federico T;
Molineris, Ivan;
Mounce, Bryan C;
Berto, Gaia E;
Rak, Malgorzata;
Lebon, Sophie;
Aubry, Laetitia;
Tocco, Chiara;
Gai, Marta;
Chiotto, Alessandra MA;
Sgrò, Francesco;
Pallavicini, Gianmarco;
Simon-Loriere, Etienne;
Passemard, Sandrine;
Vignuzzi, Marco;
Gressens, Pierre;
Di Cunto, Ferdinando

Publication type:

Article