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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

		Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule. Betty Hébert , Susanna Pietropaolo , Sandra Même , Béatrice Laudier , Anthony Laugeray , et al. Orphanet Journal of Rare Diseases, 2014, 9, pp.124. ⟨10.1186/s13023-014-0124-6⟩ Article dans une revue inserm-01089760v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth Médéric Jeanne , Marie-Laure Vuillaume , Dévina Ung , Valerie Vancollie , Christel Wagner , et al. Human Genetics, 2021, 140 (6), pp.885-896. ⟨10.1007/s00439-020-02252-1⟩ Article dans une revue inserm-04094651v1	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
		Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. Cecile Pagan , Hany Goubran Botros , Karine Poirier , Anne Dumaine , Stéphane Jamain , et al. BMC Medical Genetics, 2011, 12 (1), pp.17. ⟨10.1186/1471-2350-12-17⟩ Article dans une revue inserm-00610655v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder Judith Halewa , Sylviane Marouillat , Manon Dixneuf , Rose‐anne Thépault , Dévina C Ung , et al. Human Mutation, 2021, 42 (7), pp.848 - 861. ⟨10.1002/humu.24208⟩ Article dans une revue inserm-03273379v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		GC-MS-based urine metabolic profiling of autism spectrum disorders. Patrick Emond , Sylvie Mavel , Nacima Aïdoud , Lydie Nadal-Desbarats , Frédéric Montigny , et al. Analytical and Bioanalytical Chemistry, 2013, 405 (15), pp.5291-300. ⟨10.1007/s00216-013-6934-x⟩ Article dans une revue inserm-00908948v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1 Shanez Haouari , Christian Robert Andres , Debora Lanznaster , Sylviane Marouillat , Céline Brulard , et al. International Journal of Molecular Sciences, 2023, 24 (2), pp.1268. ⟨10.3390/ijms24021268⟩ Article dans une revue hal-04541653v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Lisa Lenaerts , Sara Reynhout , Iris Verbinnen , Frederic Laumonnier , Annick Toutain , et al. Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩ Article dans une revue inserm-03273405v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability Julie Tastet , Hélène Cuberos , Béatrice Vallée , Annick Toutain , Martine Raynaud , et al. Neuroscience, 2019, 399, pp.199-210. ⟨10.1016/j.neuroscience.2018.12.017⟩ Article dans une revue hal-02067472v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism Julie Tastet , Loïc Decalonne , Sylviane Marouillat , Joëlle Malvy , Rose-Anne Thépault , et al. Psychiatric Genetics, 2015, 25 (6), pp.263-267. ⟨10.1097/ypg.0000000000000100⟩ Article dans une revue hal-02072312v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance Amélie Cordovado , Martina Schaettin , Mederic Jeanne , Veranika Panasenkava , Anne‐sophie Denommé‐pichon , et al. Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩ Article dans une revue hal-03719616v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Audrey Guilmatre , Christèle Dubourg , Anne-Laure Mosca , Solenn Legallic , Alice Goldenberg , et al. Archives of General Psychiatry, 2009, 66 (9), pp.947-56. ⟨10.1001/archgenpsychiatry.2009.80⟩ Article dans une revue inserm-00417413v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Glutamatergic synapse in autism: a complex story for a complex disorder Laurent Galineau , Nicolas Arlicot , Anne-Claire Dupont , Frédéric Briend , Emmanuelle Houy-Durand , et al. Molecular Psychiatry, 2022, 28 (2), pp.801-809. ⟨10.1038/s41380-022-01860-9⟩ Article dans une revue hal-04424686v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		FG syndrome: The FGS2 locus revisited. Olivier Perche , Béatrice Laudier , Arnaud Menuet , Sylvie Odent , Frederic Laumonnier , et al. American Journal of Medical Genetics Part A, 2012, 158A (6), pp.1489-1492. ⟨10.1002/ajmg.a.35322⟩ Article dans une revue istex inserm-00693995v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders Erfan Aref-Eshghi , Jennifer Kerkhof , Victor Pedro , Mouna Barat-Houari , Nathalie Ruiz-Pallares , et al. American Journal of Human Genetics, 2020, 106 (3), pp.356-370. ⟨10.1016/j.ajhg.2020.01.019⟩ Article dans une revue hal-02538107v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		1H-13C NMR-based urine metabolic profiling in autism spectrum disorders. Sylvie Mavel , Lydie Nadal-Desbarats , Hélène Blasco , Frédérique Bonnet-Brilhault , Catherine Barthélémy , et al. Talanta, 2013, 114, pp.95-102. ⟨10.1016/j.talanta.2013.03.064⟩ Article dans une revue inserm-00908930v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		1H-13C NMR-based urine metabolic profiling in autism spectrum disorders. Sylvie Mavel , Lydie Nadal-Desbarats , Hélène Blasco , Frédérique Bonnet-Brilhault , Catherine Barthélémy , et al. Talanta, 2013, 114, pp.95-102. ⟨10.1016/j.talanta.2013.03.064⟩ Article dans une revue inserm-00908985v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain Julie Tastet , Patrick Vourc'H , Frédéric Laumonnier , Béatrice Vallée , Carole Michelle , et al. Biochemical and Biophysical Research Communications, 2012, 420 (2), pp.247-252. ⟨10.1016/j.bbrc.2012.02.134⟩ Article dans une revue istex hal-01136281v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		GRID1/ GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses Dévina Ung , Ludovic Tricoire , Nicolas Pietrancosta , Andjela Zlatanovic , Ben Pode-Shakked , et al. Molecular Psychiatry, 2024, ⟨10.1038/s41380-024-02469-w⟩ Article dans une revue hal-03871407v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse D. Ung , G Iacono , H Méziane , E. Blanchard , M-A Papon , et al. Molecular Psychiatry, 2018, 23 (5), pp.1356-1367. ⟨10.1038/mp.2017.39⟩ Article dans une revue inserm-02443532v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

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

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

GC-MS-based urine metabolic profiling of autism spectrum disorders.

Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Glutamatergic synapse in autism: a complex story for a complex disorder

FG syndrome: The FGS2 locus revisited.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

1H-13C NMR-based urine metabolic profiling in autism spectrum disorders.

LIMK2d, a truncated isoform of Lim kinase 2 regulates neurite growth in absence of the LIM kinase domain

GRID1/ GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse