Recherche - Archive ouverte HAL Accéder directement au contenu

Filtrer vos résultats

32 résultats
Page :
triés par
Image document

New insights into the genetics of stuttering

 Pierre Szepetowski
Brain - A Journal of Neurology , In press, ⟨10.1093/brain/awad369⟩
Article dans une revue hal-04288565v1
Image document

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.
Frontiers in Cellular Neuroscience, 2017, 11, ⟨10.3389/fncel.2017.00155⟩
Article dans une revue hal-01962456v1
Image document

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.
BMC Genetics, 2007, 8, pp.72. ⟨10.1186/1471-2156-8-72⟩
Article dans une revue hal-03509486v1
Image document

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.
PLoS ONE, 2014, 9 (3), pp.e88600. ⟨10.1371/journal.pone.0088600⟩
Article dans une revue hal-01361043v1

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

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.
Human Molecular Genetics, 2010, 19 (24), pp.4848-4860. ⟨10.1093/hmg/ddq415⟩
Article dans une revue hal-03509512v1

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.
Human Molecular Genetics, 2008, 17 (23), pp.3617-3630. ⟨10.1093/hmg/ddn256⟩
Article dans une revue hal-03509482v1

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
Image document

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.
PLoS ONE, 2016, 11 (7), ⟨10.1371/journal.pone.0160176⟩
Article dans une revue hal-01438133v1

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.
Brain - A Journal of Neurology , 2013, 136 (Pt 8), pp.2457-73. ⟨10.1093/brain/awt161⟩
Article dans une revue hal-00862156v1

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

 Marion Delcourt , Florence Riant , Josette Mancini , Mathieu Milh , Vincent Navarro , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2015, 86 (7), pp.782-785. ⟨10.1136/jnnp-2014-309025⟩
Article dans une revue hal-02136851v1

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.
Cell Reports, 2012, 1 (1), pp.2-12. ⟨10.1016/j.celrep.2011.11.001⟩
Article dans une revue hal-03509519v1

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.
Human Molecular Genetics, 2010, 19 (24), pp.4895-4905. ⟨10.1093/hmg/ddq424⟩
Article dans une revue hal-03437012v1

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.
Epilepsia, 2019, ⟨10.1111/epi.16060⟩
Article dans une revue hal-02272373v1

Genetics of human epilepsies: Continuing progress

 Pierre Szepetowski
La Presse Médicale, 2018, 47 (3), pp.218-226. ⟨10.1016/j.lpm.2017.10.020⟩
Article dans une revue hal-02350802v1
Image document

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
Image document

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.
Frontiers in Cellular Neuroscience, 2018, 12, ⟨10.3389/fncel.2018.00055⟩
Article dans une revue hal-01963858v1
Image document

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.
Frontiers in Cellular Neuroscience, 2020, 14, ⟨10.3389/fncel.2020.00001⟩
Article dans une revue hal-02509029v1

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.
Gene, 2002, 285 (1-2), pp.141-148. ⟨10.1016/s0378-1119(02)00416-x⟩
Article dans une revue istex hal-03509501v1

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.
Epilepsia, 2004, 45 (4), pp.384-390. ⟨10.1111/j.0013-9580.2004.47703.x⟩
Article dans une revue hal-03509498v1

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.
Epileptic Disorders, 2019, ⟨10.1684/epd.2019.1056⟩
Article dans une revue hal-02350836v1
Image document

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
Image document

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.
PLoS ONE, 2010, 5 (10), pp.e13750. ⟨10.1371/journal.pone.0013750⟩
Article dans une revue hal-03509515v1
Image document

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.
Epilepsia, 2018, 59 (10), pp.1919-1930. ⟨10.1111/epi.14543⟩
Article dans une revue hal-01963877v1
Image document

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.
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Article dans une revue hal-04133606v1

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

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

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

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.
Epileptic Disorders, 2010, 12 (3), pp.199-204. ⟨10.1684/epd.2010.0328⟩
Article dans une revue hal-03509504v1

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.
Eur J Hum Genet, 2016, 24 (12), pp.1761-1770. ⟨10.1038/ejhg.2016.80⟩
Article dans une revue hal-03685161v1
Page :