المؤلفون: Yann Ehinger, Valerie Matagne, Valérie Cunin, Emilie Borloz, Michel Seve, Sandrine Bourgoin-Voillard, Ana Borges-Correia, Laurent Villard, Jean-Christophe Roux

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 9, p 4316 (2021)

مصطلحات موضوعية: astrocytes, iTRAQ quantitative proteomic approach, Mecp2, neuronal arborization, Rett syndrome, secretome, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/9/4316; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/57012a67b5d74695b923eb55bfecc99d

المؤلفون: Valerie Matagne, Yann Ehinger, Lydia Saidi, Ana Borges-Correia, Martine Barkats, Marc Bartoli, Laurent Villard, Jean-Christophe Roux

المصدر: Neurobiology of Disease, Vol 99, Iss , Pp 1-11 (2017)

مصطلحات موضوعية: Rett syndrome, Mecp2, AAV9, Gene therapy, Animal model, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S096999611630290X; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/dede79c42fc643918696c45b6461c7be

المؤلفون: Jean-Christophe Roux, Diana Zala, Nicolas Panayotis, Ana Borges-Correia, Frédéric Saudou, Laurent Villard

المصدر: Neurobiology of Disease, Vol 45, Iss 2, Pp 786-795 (2012)

مصطلحات موضوعية: Rett syndrome, Mecp2, Axonal trafficking, Bdnf, App, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996111003718; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/2aa1025899944ab393eb83ac0c42c5e7

المؤلفون: Nicolas Panayotis, Michel Pratte, Ana Borges-Correia, Adeline Ghata, Laurent Villard, Jean-Christophe Roux

المصدر: Neurobiology of Disease, Vol 41, Iss 2, Pp 385-397 (2011)

مصطلحات موضوعية: Rett syndrome, A9, Caudate–putamen, Mecp2, Tyrosine hydroxylase, Dopamine, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996110003402; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/9e4156f5102d45e5933f2e821eeaf602

المؤلفون: Yann Ehinger, Marc Bartoli, Valerie Matagne, Ana Borges-Correia, Lydia Saidi, Martine Barkats, Laurent Villard, Jean-Christophe Roux

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), This work was supported by INSERM, Aix Marseille University, grants from the AFM-Téléthon (Strategic pole MNH Decrypt) and Association Française du Syndrome de Rett (AFSR)., Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Neurobiology of Disease
Neurobiology of Disease, 2017, 99, ⟨10.1016/j.nbd.2016.12.009⟩
Neurobiology of Disease, Elsevier, 2017, 99, ⟨10.1016/j.nbd.2016.12.009⟩
Neurobiology of Disease, Vol 99, Iss, Pp 1-11 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, Cyclohexanecarboxylic Acids, Apnea, Methyl-CpG-Binding Protein 2, Genetic enhancement, Weight Gain, Rett syndrome, 0302 clinical medicine, Neurodevelopmental disorder, Mesencephalon, Amines, gamma-Aminobutyric Acid, Mice, Knockout, Genetics, Catecholaminergic, treatment, Respiration, Brain, Dependovirus, Neurology, Disease Progression, Gabapentin, AAV9, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Tyrosine 3-Monooxygenase, Transgene, Genetic Vectors, Green Fluorescent Proteins, Biology, lcsh:RC321-571, MECP2, 03 medical and health sciences, Gene therapy, Internal medicine, mental disorders, medicine, Animals, Animal model, Codon, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Mecp2, Survival analysis, [SDV.GEN]Life Sciences [q-bio]/Genetics, Tyrosine hydroxylase, [SCCO.NEUR]Cognitive science/Neuroscience, Genetic Therapy, medicine.disease, Survival Analysis, nervous system diseases, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4476c89867e6da675c8c2629486607
https://doi.org/10.1016/j.nbd.2016.12.009

المؤلفون: Odile Boespflug-Tanguy, Jean-Pierre Desvignes, Ana Borges-Correia, Imen Dorboz, Marc Delepine, Nadine Girard, Laurent Villard, Pierre Sarda, Jean-Christophe Roux, Catherine Badens, Pierre Cacciagli, Pierre Cau, Julie Sutera-Sardo, Mark Lathrop, Nicolas Lévy

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence maladie rare Thalassémie, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Hôpital de la Timone [CHU - APHM] (TIMONE), CHU de Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Génétique, Reproduction et Développement (GReD), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Villard, Laurent, Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩
American Journal of Human Genetics, 2013, 93, pp.579-586. ⟨10.1016/j.ajhg.2013.07.023⟩

مصطلحات موضوعية: Male, Programmed cell death, Golgi Apparatus, Deafness, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Report, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics(clinical), [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Child, Cell Shape, Myelin Sheath, Genetics (clinical), 030304 developmental biology, Dystonia, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Endoplasmic reticulum, Infant, Membrane Proteins, Genetic Diseases, X-Linked, Fibroblasts, Golgi apparatus, 16. Peace & justice, medicine.disease, Phenotype, Pedigree, Crosstalk (biology), [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Membrane protein, Child, Preschool, Mutation, Unfolded protein response, symbols, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68c0c277076cc8e763766f8a13a0958c
https://doi.org/10.1016/j.ajhg.2013.07.023

المؤلفون: Céline Bartoli, Hélène Cuberos, Laurent Villard, Brigitte Chabrol, Anna Kaminska, Mondher Chouchane, Cécile Mignon-Ravix, Cyril Gitiaux, Cécile Laroche, Marie Anne Barthez, Nathalie Villeneuve, Mathieu Milh, Pierre Cacciagli, Ana Borges-Correia

المصدر: Epilepsia. 52:1828-1834

مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, Ohtahara syndrome, Movement disorders, medicine.diagnostic_test, business.industry, Electroencephalography, medicine.disease, 03 medical and health sciences, Epilepsy, Epileptic spasms, 0302 clinical medicine, Neurology, Cohort, medicine, STXBP1, Neurology (clinical), Age of onset, medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6efd40c32fffedb0f736148eda4bc6b6
https://doi.org/10.1111/j.1528-1167.2011.03181.x

المؤلفون: Nicolas Panayotis, Laurent Villard, Jean-Christophe Roux, Frédéric Saudou, Ana Borges-Correia, Diana Zala

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Curie [Orsay], Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris sciences et lettres (PSL)

المصدر: médecine/sciences
médecine/sciences, 2012, 28 (1), pp.44-46. ⟨10.1051/medsci/2012281016⟩

مصطلحات موضوعية: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], General Medicine, Biology, Humanities, General Biochemistry, Genetics and Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8242df3d7625a79ef04b97d8e992f8cf
https://doi.org/10.1051/medsci/2012281016

المؤلفون: Laurent Villard, Jean-Christophe Roux, Ana Borges-Correia, Diana Zala, Nicolas Panayotis, Frédéric Saudou

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL), Régulations cellulaires et oncogenèse (RCO), Institut Curie [Paris]-Centre National de la Recherche Scientifique (CNRS)

المصدر: Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2012, 45 (2), pp.786-795. ⟨10.1016/j.nbd.2011.11.002⟩
Neurobiology of Disease, Vol 45, Iss 2, Pp 786-795 (2012)
Neurobiology of Disease, 2012, 45 (2), pp.786-795. ⟨10.1016/j.nbd.2011.11.002⟩

مصطلحات موضوعية: Male, Huntingtin, Methyl-CpG-Binding Protein 2, [SDV]Life Sciences [q-bio], Fluorescent Antibody Technique, Axonal Transport, Rats, Sprague-Dawley, Mice, 0302 clinical medicine, Rett syndrome, Bdnf, Amyloid precursor protein, ComputingMilieux_MISCELLANEOUS, Oligonucleotide Array Sequence Analysis, Mice, Knockout, 0303 health sciences, Huntingtin Protein, biology, Axonal trafficking, Nuclear Proteins, Immunohistochemistry, 3. Good health, Protein Transport, Neurology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Signal transduction, Signal Transduction, congenital, hereditary, and neonatal diseases and abnormalities, Blotting, Western, Nerve Tissue Proteins, Real-Time Polymerase Chain Reaction, Transfection, MECP2, lcsh:RC321-571, 03 medical and health sciences, mental disorders, medicine, Animals, Secretion, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Mecp2, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Brain-Derived Neurotrophic Factor, Gene Expression Profiling, medicine.disease, Rats, nervous system diseases, Mice, Inbred C57BL, Disease Models, Animal, nervous system, biology.protein, Axoplasmic transport, App, Neuroscience, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9dc5cdca77c99b5dfebfa0e07226f52
https://hal-amu.archives-ouvertes.fr/hal-01668679

المؤلفون: Mathieu, Milh, Nathalie, Villeneuve, Mondher, Chouchane, Anna, Kaminska, Cécile, Laroche, Marie Anne, Barthez, Cyril, Gitiaux, Céline, Bartoli, Ana, Borges-Correia, Pierre, Cacciagli, Cécile, Mignon-Ravix, Hélène, Cuberos, Brigitte, Chabrol, Laurent, Villard

المصدر: Epilepsia. 52(10)

مصطلحات موضوعية: Epilepsy, Genotype, Infant, Newborn, Video Recording, Brain, Infant, Electroencephalography, Syndrome, Magnetic Resonance Imaging, Munc18 Proteins, Mutation, Humans, Anticonvulsants, Age of Onset, Oligonucleotide Array Sequence Analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::31e2863db1d0e3b637ecc8b495cff422
https://pubmed.ncbi.nlm.nih.gov/21770924