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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.
Article dans une revue
hal-05016107
v1
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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.
Article dans une revue
hal-04945549
v1
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Neurological outcome in WDR62 primary microcephaly
Lyse Ruaud
,
Séverine Drunat
,
Monique Elmaleh‐bergès
,
Anais Ernault
,
Sophie Guilmin Crepon
et al.
Article dans une revue
hal-03357164
v1
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Cortical organoids to model microcephaly
Sarah Farcy
,
Alexandra Albert
,
Pierre Gressens
,
Alexandre D Baffet
,
Vincent El Ghouzzi
Article dans une revue
hal-03716249
v1
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Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development
Vincent El Ghouzzi
,
Gaelle Boncompain
Article dans une revue
hal-03883807
v1
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Golgi Dysfunctions in Ciliopathies
Justine Masson
,
Vincent El Ghouzzi
Article dans une revue
hal-03770350
v1
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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.
Article dans une revue
hal-02466166
v1
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Golgipathies in Neurodevelopment: A New View of Old Defects
Sowmyalakshmi Rasika
,
Sandrine Passemard
,
Alain Verloes
,
Pierre Gressens
,
Vincent El ghouzzi
Article dans une revue
hal-02322665
v1
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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.
Article dans une revue
hal-02859833
v1
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Endoplasmic reticulum and Golgi stress in microcephaly
Sandrine Passemard
,
Franck Perez
,
Pierre Gressens
,
Vincent El ghouzzi
Article dans une revue
hal-02340189
v1
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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.
Article dans une revue
hal-02324026
v1
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STIL balancing primary microcephaly and cancer
Dhruti Patwardhan
,
Shyamala Mani
,
Sandrine Passemard
,
Pierre Gressens
,
Vincent El Ghouzzi
Article dans une revue
hal-02322706
v1
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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.
Article dans une revue
hal-02393637
v1
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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.
Article dans une revue
hal-02322811
v1
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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.
Article dans une revue
hal-02323212
v1
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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.
Article dans une revue
hal-02859852
v1
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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.
Article dans une revue
hal-02323045
v1
|
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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.
Article dans une revue
hal-02324787
v1
|
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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.
Article dans une revue
hal-02324797
v1
|
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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.
Article dans une revue
hal-02324809
v1
|
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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-02342658
v1
|
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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-02342659
v1
|
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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.
Article dans une revue
hal-02342666
v1
|
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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.
Article dans une revue
hal-02342661
v1
|
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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.
Article dans une revue
hal-02859908
v1
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A new lysosomal storage disorder resembling Morquio syndrome in sibs
Laurence Perrin
,
Odile Fenneteau
,
Brice Ilharreborde
,
Yline Capri
,
Marion Gérard
et al.
Article dans une revue
istex
hal-02342667
v1
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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.
Article dans une revue
hal-02342673
v1
|
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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.
Article dans une revue
istex
hal-02342669
v1
|
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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.
Article dans une revue
hal-02342671
v1
|
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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.
Article dans une revue
hal-02342676
v1
|
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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-02342678
v1
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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.
Article dans une revue
hal-02342679
v1
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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.
Article dans une revue
hal-02342680
v1
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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.
Article dans une revue
istex
hal-02342682
v1
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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.
Article dans une revue
hal-02342683
v1
|
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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.
Article dans une revue
hal-02342690
v1
|
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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.
Article dans une revue
hal-02342685
v1
|
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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.
Article dans une revue
hal-02342692
v1
|
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Molecular and cellular bases of syndromic craniosynostoses
Jacky Bonaventure
,
Vincent El Ghouzzi
Article dans une revue
hal-02342693
v1
|
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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.
Article dans une revue
hal-02342800
v1
|
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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.
Article dans une revue
hal-02342802
v1
|
|
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.
Article dans une revue
hal-02342801
v1
|
|
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
Article dans une revue
hal-02342808
v1
|
|
Craniosynostosis and fetal exposure to sodium valproate
Elizabeth Lajeunie
,
Uli Barcik
,
John Thorne
,
V El Ghouzzi
,
Marie Bourgeois
et al.
Article dans une revue
hal-02342809
v1
|
|
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.
Article dans une revue
istex
hal-02342810
v1
|
|
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.
Article dans une revue
hal-02342812
v1
|
|
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.
Article dans une revue
hal-02342813
v1
|
|
Clinical variability in patients with Apert's syndrome
Elisabeth Lajeunie
,
Rhoda Cameron
,
Vincent El Ghouzzi
,
Nathalie de Parseval
,
Pierre Journeau
et al.
Article dans une revue
hal-02342818
v1
|
|
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.
Article dans une revue
hal-02342815
v1
|
|
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.
Article dans une revue
hal-02342823
v1
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