Recherche - Archive ouverte HAL

20 résultats

	Pour les 20 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Protective Role of Low Ethanol Administration Following Ischemic Stroke via Recovery of KCC2 and p75NTR Expression Stanislav Khirug , Shetal Soni , Marta Saez Garcia , Marine Tessier , Liang Zhou , et al. Molecular Neurobiology, 2020, ⟨10.1007/s12035-020-02176-x⟩ Article dans une revue hal-03001173v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel carbon film induces precocious calcium oscillation to promote neuronal cell maturation Anastasia Ludwig , Sebnem Kesaf , Joonas J Heikkinen , Tatiana Sukhanova , Shokoufeh Khakipoor , et al. Scientific Reports, 2020, 10 (1), ⟨10.1038/s41598-020-74535-6⟩ Article dans une revue hal-03001199v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A knock-in mouse model for KCNQ2 -related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment Mathieu Milh , Pierre L. Roubertoux , Najoua Biba , Julie Chavany , Adeline Ghata , et al. Epilepsia, 2020, 61 (5), pp.868-878. ⟨10.1111/epi.16494⟩ Article dans une revue inserm-02551507v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system Florence Molinari , Virginia Meskanaite , Arnold Munnich , Peter Sonderegger , Laurence Colleaux Human Molecular Genetics, 2012, 12 (suppl 2), pp.R195-R200. ⟨10.1093/hmg/ddg276⟩ Article dans une revue hal-02124689v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels Affef Abidi , Jérôme Devaux , Florence Molinari , Gisèle Alcaraz , François-Xavier Michon , et al. Neurobiology of Disease, 2015, 80, pp.80 - 92. ⟨10.1016/j.nbd.2015.04.017⟩ Article dans une revue hal-01664283v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation Florence Molinari , Francois Foulquier , Patrick Tarpey , Willy Morelle , Sarah Boissel , et al. American Journal of Human Genetics, 2008, 82 (5), pp.1150-1157. ⟨10.1016/j.ajhg.2008.03.021⟩ Article dans une revue hal-02142197v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation Frédéric Laumonnier , Sébastien Roger , Pascaline Guerin , Florence Molinari , Ridha M'Rad , et al. The American Journal of Psychiatry, 2006, 163 (9), pp.1622 - 1629. ⟨10.1176/appi.ajp.163.9.1622⟩ Article dans une revue hal-02658023v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation Emmanuelle Goubert , Yanina Mircheva , Francesco M Lasorsa , Christophe Melon , Emanuela Profilo , et al. Frontiers in Cellular Neuroscience, 2017, 11, pp.149. ⟨10.3389/fncel.2017.00149⟩ Article dans une revue hal-01961870v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity Jérôme Devaux , Affef Abidi , Agathe Roubertie , Florence Molinari , Hélène Becq , et al. Epilepsia, 2016, 57 (5), pp.e87 - e93. ⟨10.1111/epi.13366⟩ Article dans une revue hal-01668018v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant Cécile Mignon‐ravix , Florence Riccardi , Géraldine Daquin , Pierre Cacciagli , Sylvie Lamoureux‐toth , et al. Epilepsia, 2023, ⟨10.1111/epi.17603⟩ Article dans une revue hal-04072437v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation Orianne Philippe , Marlène Rio , Astrid Carioux , Jean-Marc Plaza , Philippe Guigue , et al. American Journal of Human Genetics, 2009, 85 (6), pp.903-908. ⟨10.1016/j.ajhg.2009.11.007⟩ Article dans une revue hal-02134026v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype Mario Abaji , Cecile Mignon-Ravix , Svetlana Gorokhova , Pierre Cacciagli , Jeremie Mortreux , et al. Journal of Medical Genetics, 2023, ⟨10.1136/jmg-2022-108677⟩ Article dans une revue hal-04254101v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation Florence Molinari , Marlène Rio , Virginia Meskenaite , Férechté Encha-Razavi , Joelle Augé , et al. Science, 2002, 298 (5599), pp.1779-1781. ⟨10.1126/science.1076521⟩ Article dans une revue hal-02124683v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy Florence Molinari , Annick Raas-Rothschild , Marlène Rio , Giuseppe Fiermonte , Ferechte Encha-Razavi , et al. American Journal of Human Genetics, 2005, 76, pp.334 - 339 Article dans une revue hal-02044724v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The conversion of glutamate by glutamine synthase in neocortical astrocytes from juvenile rat is important to limit glutamate spillover and peri/extrasynaptic activation of NMDA receptors Yosra Trabelsi , Mohamed Amri , Hélène Becq , Florence Molinari , Laurent Aniksztejn Glia, 2017, 65 (2), pp.401-415. ⟨10.1002/glia.23099⟩ Article dans une revue hal-01962551v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		High-intensity interval training is superior to moderate intensity training on aerobic capacity in rats: Impact on hippocampal plasticity markers Annabelle Constans , Caroline Pin-Barre , Florence Molinari , Jean-Jacques Temprado , Thomas Brioche , et al. Behavioural Brain Research, 2021, 398, pp.112977. ⟨10.1016/j.bbr.2020.112977⟩ Article dans une revue hal-02983529v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Loss of NDST1 N -sulfotransferase activity is associated with autosomal recessive intellectual disability Elham Khosrowabadi , Cécile Mignon-Ravix , Florence Riccardi , Pierre Cacciagli , Béatrice Desnous , et al. Human Molecular Genetics, 2023, ⟨10.1093/hmg/ddad203⟩ Article dans une revue hal-04404827v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A possible link between KCNQ2 - and STXBP1 -related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current Jérôme Devaux , Sandra Dhifallah , Michela de Maria , Geoffrey Stuart-Lopez , Hélène Becq , et al. Epilepsia, 2017, 58 (12), pp.2073-2084. ⟨10.1111/epi.13927⟩ Article dans une revue hal-01962443v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations Sarah Boissel , Orit Reish , Karine Proulx , Hiroko Kawagoe-Takaki , Barbara Sedgwick , et al. American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩ Article dans une revue hal-02044723v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group Camille Lemattre , Marion Imbert-Bouteille , Vincent Gatinois , Paule Benit , Elodie Sanchez , et al. European Journal of Human Genetics, 2019, 27 (11), pp.1692-1700. ⟨10.1038/s41431-019-0433-2⟩ Article dans une revue hal-02180849v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Protective Role of Low Ethanol Administration Following Ischemic Stroke via Recovery of KCC2 and p75NTR Expression

Novel carbon film induces precocious calcium oscillation to promote neuronal cell maturation

A knock-in mouse model for KCNQ2 -related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

The conversion of glutamate by glutamine synthase in neocortical astrocytes from juvenile rat is important to limit glutamate spillover and peri/extrasynaptic activation of NMDA receptors

High-intensity interval training is superior to moderate intensity training on aerobic capacity in rats: Impact on hippocampal plasticity markers

Loss of NDST1 N -sulfotransferase activity is associated with autosomal recessive intellectual disability

A possible link between KCNQ2 - and STXBP1 -related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group