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New insights into the genetics of stuttering
Pierre Szepetowski
Article dans une revue
hal-04288565v1
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Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit
Dmitry A Sibarov
,
Nadine Bruneau
,
Sergei M Antonov
,
Pierre Szepetowski
,
Nail Burnashev
,
et al.
Article dans une revue
hal-01962456v1
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Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas
Barbara Royer
,
Dinesh C Soares
,
Paul N Barlow
,
Ronald E Bontrop
,
Patrice Roll
,
et al.
Article dans une revue
hal-03509486v1
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Heterogeneous Pattern of Selective Pressure for PRRT2 in Human Populations, but No Association with Autism Spectrum Disorders
Guillaume Huguet
,
Caroline Nava
,
Nathalie Lemière
,
Etienne Patin
,
Guillaume Laval
,
et al.
Article dans une revue
hal-01361043v1
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Cytomegalovirus Infection of the Rat Developing Brain In Utero Prominently Targets Immune Cells and Promotes Early Microglial Activation
Robin Cloarec
,
Sylvian Bauer
,
Herve Luche
,
Emmanuelle Buhler
,
Emilie Pallesi-Pocachard
,
et al.
Article dans une revue
hal-01438133v1
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Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.
Manal Salmi
,
Nadine Bruneau
,
Jennifer Cillario
,
Natalia Lozovaya
,
Annick Massacrier
,
et al.
Article dans une revue
hal-00862156v1
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Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
Marion Delcourt
,
Florence Riant
,
Josette Mancini
,
Mathieu Milh
,
Vincent Navarro
,
et al.
Article dans une revue
hal-02136851v1
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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Hsien-Yang Lee
,
Yong Huang
,
Nadine Bruneau
,
Patrice Roll
,
Elisha d.O. Roberson
,
et al.
Article dans une revue
hal-03509519v1
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A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene
Fabienne Schaller
,
Françoise Watrin
,
Rachel Sturny
,
Annick Massacrier
,
Pierre Szepetowski
,
et al.
Article dans une revue
hal-03437012v1
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Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse
Annachiara de Sandre-Giovannoli
,
Malika Chaouch
,
Serguei Kozlov
,
Jean-Michel Vallat
,
Meriem Tazir
,
et al.
American Journal of Human Genetics, 2002, 70 (3), pp.726 - 736. ⟨10.1086/339274⟩
Article dans une revue
hal-01724642v1
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Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex
Patrice Roll
,
Sonja Vernes
,
Nadine Bruneau
,
Jennifer Cillario
,
Magali Ponsole-Lenfant
,
et al.
Article dans une revue
hal-03509512v1
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Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR
Patrice Roll
,
Barbara Royer-Zemmour
,
Magali Ponsole-Lenfant
,
Hyam Gara
,
Christian Lévêque
,
et al.
Article dans une revue
hal-03509482v1
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Impaired vocal communication, sleep-related discharges and transient alterations of slow-wave sleep and of brain microstructure in developing mice lacking the epilepsy and language related GluN2A subunit of NMDA receptors
Manal Salmi
,
Federico del Gallo
,
Marat Minlebaev
,
Radu Bolbos
,
Andrei Zakharov
,
et al.
NeuroFrance 2019, May 2019, Marseille, France
Poster de conférence
hal-02350977v1
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Impaired vocal communication, sleep‐related discharges, and transient alteration of slow‐wave sleep in developing mice lacking the GluN2A subunit of N ‐methyl‐ d ‐aspartate receptors
Manal Salmi
,
| Marat Minlebaev
,
Andrey Zakharov
,
Vanessa Pauly
,
Pauline Perron
,
et al.
Article dans une revue
hal-02272373v1
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Genetics of human epilepsies: Continuing progress
Pierre Szepetowski
Article dans une revue
hal-02350802v1
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New gene in the homologous human 11q13-q14 and mouse 7F chromosomal regions
Vincent Ollendorff
,
Pierre Szepetowski
,
Marie-Geneviève Mattei
,
Patrick Gaudray
,
Daniel Birnbaum
Mammalian Genome, 1992, 2 (3), pp.195-200
Article dans une revue
hal-02715924v1
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In Utero Administration of Drugs Targeting Microglia Improves the Neurodevelopmental Outcome Following Cytomegalovirus Infection of the Rat Fetal Brain
Robin Cloarec
,
Sylvian Bauer
,
Natacha Teissier
,
Fabienne Schaller
,
Herve Luche
,
et al.
Article dans une revue
hal-01963858v1
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The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel
Xiao Mao
,
Nadine Bruneau
,
Quwen Gao
,
Hélène Becq
,
Zhengjun Jia
,
et al.
Article dans une revue
hal-02509029v1
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New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families
Patrice Roll
,
Annick Massacrier
,
Sandrine Pereira
,
Andrée Robaglia-Schlupp
,
Pierre Cau
,
et al.
Article dans une revue
istex
hal-03509501v1
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Complete Loss of the Cytoplasmic Carboxyl Terminus of the KCNQ2 Potassium Channel: A Novel Mutation in a Large Czech Pedigree with Benign Neonatal Convulsions or Other Epileptic Phenotypes
Sandrine Pereira
,
Patrice Roll
,
Jitka Krizova
,
Pierre Genton
,
Milan Brazdil
,
et al.
Article dans une revue
hal-03509498v1
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Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations
Gaëtan Lesca
,
Rikke S. Moller
,
Gabrielle Rudolf
,
Edouard Hirsch
,
Helle Hjalgrim
,
et al.
Article dans une revue
hal-02350836v1
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DNA amplification at 11q13.5-q14 in human breast cancer
Pierre Szepetowski
,
Vincent Ollendorff
,
Josiane Grosgeorge
,
Anouk Courseaux
,
Daniel Birnbaum
,
et al.
Oncogene, 1992, 7 (12), pp.2513-2517
Article dans une revue
hal-02714775v1
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Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11
Patrice Roll
,
Damien Sanlaville
,
Jennifer Cillario
,
Audrey Labalme
,
Nadine Bruneau
,
et al.
Article dans une revue
hal-03509515v1
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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
Hannah C Happ
,
Lynette G Sadleir
,
Matthew Zemel
,
Guillem de Valles-Ibáñez
,
Michael S Hildebrand
,
et al.
Article dans une revue
hal-04133606v1
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Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a
Manal Salmi
,
Radu Bolbos
,
Sylvian Bauer
,
Marat Minlebaev
,
Nail Burnashev
,
et al.
Article dans une revue
hal-01963877v1
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Early events in cytomegalovirus infection of the developing rat brain: a pathophysiological role for viral chemokine r129?
Sylvian Bauer
,
Emmanuelle Buhler
,
Carla Crespo-Quiles
,
Robin Cloarec
,
Hervé Luche
,
et al.
NeuroFrance 2019, May 2019, Marseille, France
Poster de conférence
hal-02350933v1
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Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy
Hannah Happ
,
Lynette Sadleir
,
Matthew Zemel
,
Guillem de Valles-Ibáñez
,
Michael Hildebrand
,
et al.
2022
Pré-publication, Document de travail
hal-03817762v1
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Magnetofection™ of NMDA Receptor Subunits GluN1 and GluN2A Expression Vectors in Non-Neuronal Host Cells
Nadine Bruneau
,
Pierre Szepetowski
Part of the Methods in Molecular Biology book series, pp.129-135, 2017
Chapitre d'ouvrage
hal-01962144v1
|
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Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome
Patrice Roll
,
Jacques Rochette
,
Ying-Hui Fu
,
Anne gaëlle Lemoing
,
Barbara Royer
,
et al.
Article dans une revue
hal-03509504v1
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
Gabrielle Rudolf
,
Gaetan Lesca
,
Mana M. Mehrjouy
,
Audrey Labalme
,
Manal Salmi
,
et al.
Article dans une revue
hal-03685161v1
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