يعرض 1 - 10 نتائج من 39 نتيجة بحث عن '"Florence Molinari"', وقت الاستعلام: 1.02s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

    المؤلفون: Affef Abidi, Jérôme J. Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Julie Sutera-Sardo, Hélène Becq, Caroline Lacoste, Cécilia Altuzarra, Alexandra Afenjar, Cyril Mignot, Diane Doummar, Bertrand Isidor, Sylvie N. Guyen, Estelle Colin, Sabine De La Vaissière, Damien Haye, Adeline Trauffler, Catherine Badens, Fabienne Prieur, Gaetan Lesca, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    المصدر: Neurobiology of Disease, Vol 80, Iss , Pp 80-92 (2015)

    مصطلحات موضوعية: Early epileptic encephalopathy, Kv7 channels, M-current, p.A294V mutation, p.A294G mutation, Subcellular channel expression, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996115001734Test; https://doaj.org/toc/1095-953XTest

    الوصول الحر: https://doaj.org/article/bb8812cd369d45d1b82eede26d4f8c12Test

    View record in DOAJ

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  2. 2
    دورية أكاديمية
    Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation

    المؤلفون: Emmanuelle Goubert, Yanina Mircheva, Francesco M. Lasorsa, Christophe Melon, Emanuela Profilo, Julie Sutera, Hélène Becq, Ferdinando Palmieri, Luigi Palmieri, Laurent Aniksztejn, Florence Molinari

    المصدر: Frontiers in Cellular Neuroscience, Vol 11 (2017)

    مصطلحات موضوعية: mitochondrial glutamate carrier, glutamate transport, epilepsy, astrocytes, glutamate, ATP, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    العلاقة: http://journal.frontiersin.org/article/10.3389/fncel.2017.00149/fullTest; https://doaj.org/toc/1662-5102Test

    الوصول الحر: https://doaj.org/article/0ce96786b2b7409f81d58682a607127aTest

    View record in DOAJ النص الكامل

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  3. 3
    NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

    المؤلفون: Cécile Mignon‐Ravix, Florence Riccardi, Géraldine Daquin, Pierre Cacciagli, Sylvie Lamoureux‐Toth, Laurent Villard, Nathalie Villeneuve, Florence Molinari

    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), Service de neurophysiologie clinique [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Département de génétique médicale [Hôpital de la Timone - APHM], 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)-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 Hospitalier Henri Duffaut (Avignon), Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM], Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM], A*Midex : AMX-19-IET-004

    المصدر: Epilepsia
    Epilepsia, 2023, ⟨10.1111/epi.17603⟩

    مصطلحات موضوعية: Electroencephalogram, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Seizures, SNARE, [SCCO.NEUR]Cognitive science/Neuroscience, NAPB, Neurology (clinical), SNAP, Whole Exome Sequencing, Developmental and Epileptic Encephalopathies

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63f2e0ace9f5e86a37281d4687fe51fTest
    https://hal-amu.archives-ouvertes.fr/hal-04072437Test


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  4. 4
    La bumétanide induit un contact microglie-interneurone post-traumatique pour promouvoir la neurogenèse et la récupération

    المؤلفون: Marine Tessier, Marta Saez Garcia, Emmanuelle Goubert, Edith Blasco, Amandine Consumi, Benoit Dehapiot, Li Tian, Florence Molinari, Jerome Laurin, François Guillemot, Christian A Hübner, Christophe Pellegrino, Claudio Rivera

    المساهمون: Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Helsinki Institute of Life Science (HiLIFE), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF (institution))-Centre National de la Recherche Scientifique (CNRS), Turing Centre for Living Systems [Marseille] (TCLS), Institute of Biomedicine and Translational Medicine [Tartu, Estonie], University of Tartu, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), The Francis Crick Institute [London], Jena University Hospital [Jena], HiLIFE - Neuroscience Center (NC), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki

    المصدر: Brain-A Journal of Neurology
    Brain-A Journal of Neurology, In press, ⟨10.1093/brain/awad132/7134130⟩

    مصطلحات موضوعية: chloride homeostasis, traumatic brain injury, [SDV]Life Sciences [q-bio], microglia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), GABAergic transmission, neuroinflammation

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7daf8456eadd96de22e3edb95f89db6fTest
    https://hal-amu.archives-ouvertes.fr/hal-04089138/documentTest


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  5. 5
    N°179 – NAPB and developmental and epileptic encephalopathy: Description of the electro-clinical profile associated to a novel pathogenic variant

    المؤلفون: Cécile Mignon-Ravix, Florence Riccardi, Géraldine Daquin, Pierre Cacciagli, Sylvie Lamoureux-Toth, Laurent Villard, Nathalie Villeneuve, Florence Molinari

    المصدر: Clinical Neurophysiology. 150:e128

    مصطلحات موضوعية: Neurology, Physiology (medical), Neurology (clinical), Sensory Systems

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5139db55a4fa5aebe9349267b4dbe7a8Test
    https://doi.org/10.1016/j.clinph.2023.03.173Test


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  6. 6
    Bumetanide increases microglia-interneuron contact following traumatic brain injury

    المؤلفون: Marine Tessier, Marta Saez Garcia, Emmanuelle Goubert, Li Tian, Florence Molinari, Edith Blasco, Jerome Laurin, François Guillemot, Christian Hübner, Christophe Pellegrino, Claudio Rivera

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::07edc9192d14b00c7b208f75a2481d92Test
    https://doi.org/10.1101/2022.06.03.494659Test


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  7. 7
    TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype

    المؤلفون: Mario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova, Pierre Cacciagli, Jérémie Mortreux, Florence Molinari, Brigitte Chabrol, Sabine Sigaudy, Laurent Villard, Florence Riccardi

    المصدر: Journal of Medical Genetics. :jmedgenet-2022

    مصطلحات موضوعية: Genetics, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e7e607afca355e2bbc1570288b46060fTest
    https://doi.org/10.1136/jmg-2022-108677Test


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  8. 8
    Novel carbon film induces precocious calcium oscillation to promote neuronal cell maturation

    المؤلفون: Claudio Rivera, Sung I. Kim, Ville Jokinen, Sebnem Kesaf, Henri J. Huttunen, Christophe Pellegrino, Jeon G. Han, Tatiana Sukhanova, Anastasia Ludwig, Florence Molinari, Sari E. Lauri, Joonas J. Heikkinen, Shokoufeh Khakipoor, Sami Franssila

    المساهمون: Faculty Common Matters (Faculty of Biology and Environmental Sciences), Neuroscience Center, Syn­aptic Plas­ti­city and De­vel­op­ment, Biosciences, Henri Juhani Huttunen / Principal Investigator, Physiology and Neuroscience (-2020), Molecular and Integrative Biosciences Research Programme, Division of Pharmaceutical Chemistry and Technology, Helsinki In Vivo Animal Imaging Platform (HAIP), Claudio Rivera Baeza / Principal Investigator, HiLIFE - Neuroscience Center (NC), Helsinki Institute of Life Science (HiLIFE), University of Helsinki-University of Helsinki, Aalto University School of Science and Technology [Aalto, Finland], Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, 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), Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Sungkyunkwan University [Suwon] (SKKU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of Helsinki, Microfabrication, Aix-Marseille Université, Institut national de la santé et de la recherche médicale, Sungkyunkwan University, Department of Chemistry and Materials Science, Aalto-yliopisto, Aalto University

    المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
    Scientific Reports
    Scientific Reports, Nature Publishing Group, 2020, 10 (1), ⟨10.1038/s41598-020-74535-6⟩

    مصطلحات موضوعية: STIMULATION, 0301 basic medicine, Nerve net, Cellular differentiation, NANOTUBES, chemistry.chemical_element, lcsh:Medicine, 02 engineering and technology, NEURAL STEM-CELLS, FREQUENCY, Cell Maturation, Article, Calcium in biology, 03 medical and health sciences, medicine, Humans, Premovement neuronal activity, Regeneration and repair in the nervous system, lcsh:Science, Neurons, NANOMATERIALS, Nanoscale materials, Multidisciplinary, lcsh:R, 3112 Neurosciences, 1184 Genetics, developmental biology, physiology, Cell Differentiation, Dendrites, 021001 nanoscience & nanotechnology, Carbon, Neural stem cell, DIFFERENTIATION, 030104 developmental biology, Carbon film, medicine.anatomical_structure, nervous system, chemistry, Biophysics, Calcium, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], lcsh:Q, Nerve Net, 0210 nano-technology

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70740b7acf6b50a650dcaf550f7d0d4fTest
    http://link.springer.com/article/10.1038/s41598-020-74535-6Test


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  9. 9
    Identification of Novel Microcephaly-Linked Protein ABBA that Mediates Cortical Progenitor Cell Division and Corticogenesis Through NEDD9-RhoA

    المؤلفون: Aurelie Carabalona, Henna Kallo, Liliia Andriichuk, Maryanne Gonzalez, Ellinoora Elomaa, Florence Molinari, Christiana Fragkou, Pekka Lappalainen, Marja Wessels, Juha Saarikangas, Claudio Rivera

    المصدر: SSRN Electronic Journal.

    مصطلحات موضوعية: History, Polymers and Plastics, Business and International Management, Industrial and Manufacturing Engineering

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d63c6898df8f0a36ac8d08f7890012Test
    https://doi.org/10.2139/ssrn.4072043Test


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  10. 10
    Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

    المؤلفون: M. Tanguy, A. Hamblin, Ehsan Ghayoor Karimiani, Javeria Raza Alvi, Gökhan Yigit, D. Kasperaviciute, Shima Imannezhad, C.R. Boustred, Brigitte Chabrol, Ehtisham Ul Haq Makhdoom, Cécile Mignon-Ravix, Vasiliki Karageorgou, Maria Iqbal, Farah Ashrafzadeh, Sheraz Jamal Khan, Michael Field, Henry Houlden, Adam Jackson, David A. Dyment, J. Pullinger, Yasra Sarwar, S.E.A. Leigh, Jamshaid Mahmood Baig, Zafar Ali, S.C. Smith, A. Stuckey, Muhammad Sajid Hussain, Fatima Rahman, N. Murugaesu, J.C. Ambrose, M. Mueller, K. Sawant, A. Sieghart, E. Walsh, Alistair T. Pagnamenta, Shahid Mahmood Baig, R. Jackson, E.R.A. Thomas, M.B. Pereira, Fowzan S. Alkuraya, K. Witkowska, Augusto Rendon, P. Arumugam, F. Boardman-Pretty, Angelika A. Noegel, Siddharth Banka, Uzma Abdullah, Tim Hubbard, T. Rahim, F.J. Lopez, Dalal K. Bubshait, Louise J. Jones, A. Giess, M.J. Welland, Susanne Motameny, Mehran Beiraghi Toosi, E. Williams, Barbara Vona, Arianna Tucci, K. Savage, Florence Molinari, Florence Riccardi, Mark J. Caulfield, I.U. Leong, M. Kayikci, Muhammad Jameel, Christian Beetz, A. Kousathanas, A. Siddiq, T. Fowler, Yun Li, Jozef Hertecant, M. Bleda, F. Maleady-Crowe, Birgit Budde, Sofia Douzgou, Wolfgang Höhne, C.A. Odhams, Laurent Villard, Janine Altmüller, S.R. Thompson, Lesley C. Adès, Christine Patch, Aboulfazl Rad, P. O’Donovan, A.C. Need, S. M. Wood, L. Lahnstein, L. Moutsianas, Büşranur Çavdarlı, Reza Maroofian, S. Henderson, Tobias Scherf de Almeida, D. Perez-Gil, Tipu Sultan, T. Rogers, Stephanie Efthymiou, Shazia Maqbool, G.C. Chan, A. Sosinsky, Jayne Antony, H. Brittain, R.H. Scott, Peter Nürnberg, Bernd Wollnik, Matthew Osmond

    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), Département de génétique médicale [Hôpital de la Timone - APHM], 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), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)

    المصدر: Genetics in Medicine
    Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01260-4⟩
    Genomics England Research Consortium 2021, ' Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01260-4Test

    مصطلحات موضوعية: 0301 basic medicine, In silico, Cadherin Related Proteins, Biology, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual Disability, Intellectual disability, medicine, Missense mutation, Humans, Genetics (clinical), Exome sequencing, Genetics, Progressive microcephaly, [SDV.GEN]Life Sciences [q-bio]/Genetics, medicine.disease, Cadherins, Human genetics, Pedigree, 030104 developmental biology, Phenotype, Neurodevelopmental Disorders, Mendelian inheritance, symbols, Microcephaly, Technology Platforms, 030217 neurology & neurosurgery

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c59f5c4822ac8d7c57e3efbd28beeedTest
    https://hal.archives-ouvertes.fr/hal-03322569Test


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