Vincent El Ghouzzi

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Publications

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Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the <i>RTTN</i> Gene

Clarisse Gins , Fabien Guimiot , Séverine Drunat , Clemence Prévost , Jonathan Rosenblatt et al.

Neurology Genetics, 2025, 11, ⟨10.1212/nxg.0000000000200221⟩

Article dans une revue hal-05016107v1

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

Sophie Lebon , Arnaud Bruneel , Séverine Drunat , Alexandra Albert , Zsolt Csaba et al.

Life Science Alliance, 2025, 8 (4), pp.e202403065. ⟨10.26508/lsa.202403065⟩

Article dans une revue hal-05491977v1

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene.

Clarisse Gins , Fabien Guimiot , Séverine Drunat , Clemence Prévost , Jonathan Rosenblatt et al.

Neurotherapeutics, 2025, 22 (5), pp.e00621. ⟨10.1016/j.neurot.2025.e00621⟩

Article dans une revue hal-05491968v1
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A biallelic variant in $GORASP1$ causes a novel Golgipathy with glycosylation and mitotic defects

Sophie Lebon , Arnaud Bruneel , Séverine Drunat , Alexandra Albert , Zsolt Csaba et al.

Life Science Alliance, 2025, 8 (4), pp.e202403065. ⟨10.26508/lsa.202403065⟩

Article dans une revue hal-04945549v1
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Neurological outcome in WDR62 primary microcephaly

Lyse Ruaud , Séverine Drunat , Monique Elmaleh‐bergès , Anais Ernault , Sophie Guilmin Crepon et al.

Developmental Medicine and Child Neurology - Developmental Medicine & Child Neurology, 2022, ⟨10.1111/dmcn.15060⟩

Article dans une revue hal-03357164v1
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Cortical organoids to model microcephaly

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

Cells, 2022, 11 (14), pp.2135. ⟨10.3390/cells11142135⟩

Article dans une revue hal-03716249v1
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Golgi Dysfunctions in Ciliopathies

Justine Masson , Vincent El Ghouzzi Article dans une revue hal-03770350v1
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Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development

Vincent El Ghouzzi , Gaelle Boncompain

Nature Communications, 2022, 13 (1), pp.7397. ⟨10.1038/s41467-022-35101-y⟩

Article dans une revue hal-03883807v1
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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Hala Nasser , Liza Vera , Monique Elmaleh-Bergès , Katharina Steindl , Pascaline Létard et al.

Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106474. ⟨10.1136/jmedgenet-2019-106474⟩

Article dans une revue hal-02466166v1
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Golgipathies in Neurodevelopment: A New View of Old Defects

Sowmyalakshmi Rasika , Sandrine Passemard , Alain Verloes , Pierre Gressens , Vincent El ghouzzi

Developmental Neuroscience, 2019, 40 (5-6), pp.396-416. ⟨10.1159/000497035⟩

Article dans une revue hal-02322665v1
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VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

Annette Uwineza , Jean-Hubert Caberg , Janvier Hitayezu , Stephane Wenric , Leon Mutesa et al.

European Journal of Medical Genetics, 2019, 62 (8), pp.103704. ⟨10.1016/j.ejmg.2019.103704⟩

Article dans une revue hal-02859833v1
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Endoplasmic reticulum and Golgi stress in microcephaly

Sandrine Passemard , Franck Perez , Pierre Gressens , Vincent El ghouzzi

Cell Stress, 2019, ⟨10.15698/cst2019.12.206⟩

Article dans une revue hal-02340189v1
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Abstracts from the 50th European Society of Human Genetics Conference: Posters

Sandrine Passemard , Kosuke Izumi , M Brett , E Nishi , Severine Drunat et al.

European Journal of Human Genetics, 2019, 26 (S1), pp.113-819. ⟨10.1038/s41431-018-0247-7⟩

Article dans une revue hal-02324026v1
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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Pascaline Létard , Séverine Drunat , Yoann Vial , Sarah Duerinckx , Anais Ernault et al.

Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩

Article dans une revue hal-02393637v1
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STIL balancing primary microcephaly and cancer

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

Cell Death and Disease, 2018, 9 (2), ⟨10.1038/s41419-017-0101-9⟩

Article dans une revue hal-02322706v1
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Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies”

Sandrine Passemard , Franck Perez , Emilie Colin-Lemesre , Sowmyalakshmi Rasika , Pierre Gressens et al.

Progress in Neurobiology, 2017, 153 (3), pp.46-63. ⟨10.1016/j.pneurobio.2017.03.007⟩

Article dans une revue hal-02322811v1
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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi , Maggie Brett , Eriko Nishi , Séverine Drunat , Ee-Shien Tan et al.

American Journal of Human Genetics, 2016, 99 (2), pp.451-459. ⟨10.1016/j.ajhg.2016.06.011⟩

Article dans une revue hal-02859852v1

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

Kosuke Izumi , Maggie Brett , Eriko Nishi , Séverine Drunat , Ee-Shien Tan et al.

American Journal of Human Genetics, 2016, 99 (2), pp.451-459. ⟨10.1016/j.ajhg.2016.06.011⟩

Article dans une revue hal-02323212v1
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ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

Vincent El Ghouzzi , Federico Bianchi , Ivan Molineris , Bryan Mounce , Gaia Berto et al.

Cell Death and Disease, 2016, 7, pp.e2440. ⟨10.1038/cddis.2016.266⟩

Article dans une revue hal-02323045v1
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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Brian N. Harding , Amanda Moccia , Séverine Drunat , Omar Soukarieh , Hélène Tubeuf et al.

American Journal of Human Genetics, 2016, 99 (2), pp.511-520. ⟨10.1016/j.ajhg.2016.07.003⟩

Article dans une revue hal-02324787v1
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Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Sandrine Passemard , Alain Verloes , Thierry Billette de Villemeur , Odile Boespflug-Tanguy , Karen Hernandez et al.

Cortex, 2016, 74, pp.158-176. ⟨10.1016/j.cortex.2015.10.010⟩

Article dans une revue hal-02324797v1
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Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans

Nina Dupuis , Assia Fafouri , Aurélien Bayot , Manoj Kumar , Tifenn Lecharpentier et al.

Human Molecular Genetics, 2015, 24 (10), pp.2771-2783. ⟨10.1093/hmg/ddv038⟩

Article dans une revue hal-02324809v1
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HIP/PAP prevents excitotoxic neuronal death and promotes plasticity

Parthiv Haldipur , Nina Dupuis , Vincent Degos , Nicolas Moniaux , Vibol Chhor et al.

Annals of Clinical and Translational Neurology, 2014, 1 (10), pp.739-754. ⟨10.1002/acn3.127⟩

Article dans une revue hal-02342659v1
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Endogenous cerebellar neurogenesis in adult mice with progressive ataxia

Manoj Kumar , Zsolt Csaba , Stéphane Peineau , Rupali Srivastava , Sowmyalakshmi Rasika et al.

Annals of Clinical and Translational Neurology, 2014, 1 (12), pp.968-981. ⟨10.1002/acn3.137⟩

Article dans une revue hal-02342658v1

A Novel RAB33B Mutation in Smith-McCort Dysplasia

Nina Dupuis , Sophie Lebon , Manoj Kumar , Séverine Drunat , Luitgard Graul-Neumann et al.

Human Mutation, 2013, 34 (2), pp.283-286. ⟨10.1002/humu.22235⟩

Article dans une revue hal-02342666v1
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Conditional Induction of Math1 Specifies Embryonic Stem Cells to Cerebellar Granule Neuron Lineage and Promotes Differentiation into Mature Granule Neurons

Rupali Srivastava , Manoj Kumar , Stéphane Peineau , Zsolt Csaba , Shyamala Mani et al.

STEM CELLS, 2013, 31 (4), pp.652-665. ⟨10.1002/stem.1295⟩

Article dans une revue hal-02342661v1
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A Novel RAB33B Mutation in Smith-McCort Dysplasia

Nina Dupuis , Sophie Lebon , Manoj Kumar , Séverine Drunat , Luitgard Graul-Neumann et al.

Human Mutation, 2013, 34 (2), pp.283-286. ⟨10.1002/humu.22235⟩

Article dans une revue hal-02859908v1

A new lysosomal storage disorder resembling Morquio syndrome in sibs

Laurence Perrin , Odile Fenneteau , Brice Ilharreborde , Yline Capri , Marion Gérard et al.

European Journal of Medical Genetics, 2012, 55 (3), pp.157-162. ⟨10.1016/j.ejmg.2012.01.001⟩

Article dans une revue istex hal-02342667v1

Implanted Neurosphere-Derived Precursors Promote Recovery After Neonatal Excitotoxic Brain Injury

Luigi Titomanlio , Myriam Bouslama , Virginia Le Verche , Jeremie Dalous , Angela M. Kaindl et al.

Stem Cells and Development, 2011, 20 (5), pp.865-879. ⟨10.1089/scd.2010.0302⟩

Article dans une revue hal-02342673v1
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Stem cell therapy for neonatal brain injury: Perspectives and Challenges

Luigi Titomanlio , Annemieke Kavelaars , Jeremie Dalous , Shyamala Mani , Vincent El Ghouzzi et al.

Annals of Neurology, 2011, 70 (5), pp.698-712. ⟨10.1002/ana.22518⟩

Article dans une revue istex hal-02342669v1
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VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling

Sandrine Passemard , Vincent El Ghouzzi , Hala Nasser , Catherine Verney , Guilan Vodjdani et al.

Journal of Clinical Investigation, 2011, 121 (8), pp.3072-3087. ⟨10.1172/JCI43824⟩

Article dans une revue hal-02342671v1
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The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Ariane Dimitrov , Vincent Paupe , Charles Gueudry , Jean-Baptiste Sibarita , Graça Raposo et al.

Human Molecular Genetics, 2009, 18 (3), pp.440-453. ⟨10.1093/hmg/ddn371⟩

Article dans une revue hal-02342676v1
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Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits

Romain Fontaine , Paul Olivier , Véronique Massonneau , Philippe Leroux , Vincent Degos et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008, 105 (43), pp.16779-16784. ⟨10.1073/pnas.0803004105⟩

Article dans une revue hal-02342678v1
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AIF Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology

Vincent El Ghouzzi , Zsolt Csaba , Paul Olivier , Benjamin Lelouvier , Leslie Schwendimann et al.

Journal of Neuropathology and Experimental Neurology, 2007, 66 (9), pp.838-847. ⟨10.1097/NEN.0b013e318148b822⟩

Article dans une revue hal-02342679v1

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

Zsolt Csaba , Benjamin Lelouvier , Cécile Viollet , Vincent El Ghouzzi , Kiyoko Toyama et al.

Traffic, 2007, 8 (7), pp.820-834. ⟨10.1111/j.1600-0854.2007.00580.x⟩

Article dans une revue hal-02342680v1

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

Luitgard Neumann , Vincent El Ghouzzi , Vincent Paupe , Hans-Peter Weber , Elisabeth Fastnacht et al.

American Journal of Medical Genetics Part A, 2006, 140A (5), pp.421-426. ⟨10.1002/ajmg.a.31090⟩

Article dans une revue istex hal-02342682v1
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Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

Elisabeth Lajeunie , Solange Heuertz , Vincent El Ghouzzi , Jelena Martinovic , Dominique Renier et al.

European Journal of Human Genetics, 2006, 14 (3), pp.289-298. ⟨10.1038/sj.ejhg.5201558⟩

Article dans une revue hal-02342683v1
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Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation

David Genevieve , Delphine Héron , Vincent El Ghouzzi , Catherine Prost-Squarcioni , Martine Le Merrer et al.

European Journal of Human Genetics, 2005, 13 (5), pp.541-546. ⟨10.1038/sj.ejhg.5201339⟩

Article dans une revue hal-02342690v1

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

Jean-Jacques Brière , Judith Favier , Paule Bénit , Vincent El Ghouzzi , Annalisa Lorenzato et al.

Human Molecular Genetics, 2005, 14 (21), pp.3263-3269. ⟨10.1093/hmg/ddi359⟩

Article dans une revue hal-02342685v1
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Recent advances in Dyggve–Melchior–Clausen syndrome

Vincent Paupe , Thierry Gilbert , Martine Le Merrer , Arnold Munnich , Valérie Cormier-Daire et al.

Molecular Genetics and Metabolism, 2004, 83 (1-2), pp.51-59. ⟨10.1016/j.ymgme.2004.08.012⟩

Article dans une revue hal-02342692v1

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

Loïc de Pontual , Virginie Népote , Tania Attié-Bitach , Hassan Al Halabiah , Ha Trang et al.

Human Molecular Genetics, 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩

Article dans une revue hal-02342800v1

Molecular and cellular bases of syndromic craniosynostoses

Jacky Bonaventure , Vincent El Ghouzzi

Expert Reviews in Molecular Medicine, 2003, 5 (4), pp.1-17. ⟨10.1017/S1462399403005751⟩

Article dans une revue hal-02342693v1

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

Vincent El Ghouzzi , Nathalie Dagoneau , Esther Kinning , Christel Thauvin-Robinet , Wassim Chemaitilly et al.

Human Molecular Genetics, 2003, 12 (3), pp.357-364. ⟨10.1093/hmg/ddg029⟩

Article dans une revue hal-02342802v1

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24

Xavier de Mollerat , Fiorella Gurrieri , Chad Morgan , Eugenio Sangiorgi , David Everman et al.

Human Molecular Genetics, 2003, 12 (16), pp.1959-1971. ⟨10.1093/hmg/ddg212⟩

Article dans une revue hal-02342801v1

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

Malika Yousfi , Francoise Lasmoles , Vincent El Ghouzzi , Pierre J. Marie

Human Molecular Genetics, 2002, 11 (4), pp.359-369. ⟨10.1093/hmg/11.4.359⟩

Article dans une revue hal-02342808v1

Craniosynostosis and fetal exposure to sodium valproate

Elizabeth Lajeunie , Uli Barcik , John Thorne , V El Ghouzzi , Marie Bourgeois et al.

Journal of Neurosurgery, 2001, 95 (5), pp.778-782. ⟨10.3171/jns.2001.95.5.0778⟩

Article dans une revue hal-02342809v1

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

Vincent El Ghouzzi , Laurence Legeai-Mallet , Catherine Benoist-Lasselin , Elisabeth Lajeunie , Dominique Renier et al.

FEBS Letters, 2001, 492 (1-2), pp.112-118. ⟨10.1016/s0014-5793(01)02238-4⟩

Article dans une revue istex hal-02342810v1

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

Dominique Renier , V El-Ghouzzi , Jacky Bonaventure , Martine Le Merrer , Elizabeth Lajeunie et al.

Journal of Neurosurgery, 2000, 92 (4), pp.631-636. ⟨10.3171/jns.2000.92.4.0631⟩

Article dans une revue hal-02342812v1
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Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

Vincent El Ghouzzi , Laurence Legeai-Mallet , Sandra Aresta , Catherine Benoist , Arnold Munnich et al.

Human Molecular Genetics, 2000, 9 (5), pp.813-819. ⟨10.1093/hmg/9.5.813⟩

Article dans une revue hal-02342813v1

Clinical variability in patients with Apert's syndrome

Elisabeth Lajeunie , Rhoda Cameron , Vincent El Ghouzzi , Nathalie de Parseval , Pierre Journeau et al.

Journal of Neurosurgery, 1999, 90 (3), pp.443-447. ⟨10.3171/jns.1999.90.3.0443⟩

Article dans une revue hal-02342818v1

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

Vincent El Ghouzzi , Elisabeth Lajeunie , Martine Le Merrer , Valérie Cormier-Daire , Dominique Renier et al.

European Journal of Human Genetics, 1999, 7 (1), pp.27-33. ⟨10.1038/sj.ejhg.5200240⟩

Article dans une revue hal-02342815v1

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

V El Ghouzzi , M. Le Merrer , Fabienne Perrin-Schmitt , Elisabeth Lajeunie , Paule Bénit et al.

Nature Genetics, 1997, 15 (1), pp.42-46. ⟨10.1038/ng0197-42⟩

Article dans une revue hal-02342823v1