المؤلفون: Desaphy, Jean-François, Altamura, Concetta, Vicart, Savine, Fontaine, Bertrand

المساهمون: Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 2214-3599.

مصطلحات موضوعية: Non-dystrophic myotonia, periodic paralysis, congenital myopathy, congenital myasthenic syndrome, sodium channel, calcium channel, chloride channel, targeted therapy, precision medicine, MESH: Channelopathies, MESH: Humans, MESH: Myotonic Disorders, MESH: Precision Medicine, MESH: Randomized Controlled Trials as Topic, MESH: Sodium Channel Blockers, MESH: Hypokalemic Periodic Paralysis, MESH: Lamotrigine, MESH: Mexiletine, MESH: Muscle, Skeletal, MESH: Mutation, MESH: Myasthenic Syndromes, Congenital, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33325393; hal-03449042; https://hal.sorbonne-universite.fr/hal-03449042Test; https://hal.sorbonne-universite.fr/hal-03449042/documentTest; https://hal.sorbonne-universite.fr/hal-03449042/file/jnd_2021_8-3_jnd-8-3-jnd200582_jnd-8-jnd200582.pdfTest; PUBMED: 33325393; PUBMEDCENTRAL: PMC8203248

الإتاحة: https://doi.org/10.3233/JND-200582Test
https://hal.sorbonne-universite.fr/hal-03449042Test
https://hal.sorbonne-universite.fr/hal-03449042/documentTest
https://hal.sorbonne-universite.fr/hal-03449042/file/jnd_2021_8-3_jnd-8-3-jnd200582_jnd-8-jnd200582.pdfTest

المؤلفون: Nathalie Sans, Yu Zhang, Ben A. Oostra, Andreas Frick, Guillaume Bony, Melanie Ginger, Susanna Pietropaolo, Gwen LeMasson, Jean Rossier, Isabelle Ferezou, Audrey Bonnan

المساهمون: Physiopathologie du système nerveux central - Institut François Magendie, Université Bordeaux Segalen - Bordeaux 2-IFR8-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Neurosciences Information et Complexité [Gif sur Yvette] (UNIC), Centre National de la Recherche Scientifique (CNRS), Institut de Neurobiologie Alfred Fessard (INAF), Laboratoire de Neurobiologie, Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Department of Clinical Genetics, Erasmus MC

المصدر: Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2014, 17 (12), pp.1701-1709. ⟨10.1038/nn.3864⟩

مصطلحات موضوعية: Male, Reflex, Startle, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Action Potentials, Sensory system, Neocortex, Somatosensory system, MESH: Dendrites, MESH: Fragile X Mental Retardation Protein, MESH: Mice, Knockout, 03 medical and health sciences, Fragile X Mental Retardation Protein, Mice, MESH: Neocortex, 0302 clinical medicine, Calcium imaging, Organ Culture Techniques, MESH: Channelopathies, MESH: Mice, Inbred C57BL, medicine, Animals, MESH: Animals, MESH: Mice, MESH: Action Potentials, 030304 developmental biology, Mice, Knockout, 0303 health sciences, Sensory stimulation therapy, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, General Neuroscience, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Dendrites, medicine.disease, FMR1, MESH: Organ Culture Techniques, MESH: Male, Fragile X syndrome, Mice, Inbred C57BL, Electrophysiology, medicine.anatomical_structure, Channelopathies, MESH: Reflex, Startle, Psychology, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dcc55071e381d48436afc4b85cfec85Test
https://hal.archives-ouvertes.fr/hal-02064702Test

المؤلفون: Zhang, Yu, Bonnan, Audrey, Bony, Guillaume, Ferezou, Isabelle, Pietropaolo, Susanna, Ginger, Melanie, Sans, Nathalie, Rossier, Jean, Oostra, Ben, Lemasson, Gwen, Frick, Andreas

المساهمون: Physiopathologie du système nerveux central - Institut François Magendie, Université Bordeaux Segalen - Bordeaux 2-IFR8-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Neurosciences Information et Complexité Gif sur Yvette (UNIC), Centre National de la Recherche Scientifique (CNRS), Institut de Neurobiologie Alfred Fessard (INAF), Laboratoire de Neurobiologie, Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Department of Clinical Genetics, Erasmus MC

المصدر: ISSN: 1097-6256.

مصطلحات موضوعية: MESH: Action Potentials, MESH: Animals, MESH: Mice, Inbred C57BL, Knockout, MESH: Neocortex, MESH: Organ Culture Techniques, MESH: Reflex, Startle, MESH: Channelopathies, MESH: Dendrites, MESH: Fragile X Mental Retardation Protein, MESH: Male, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, psy, musiq

العلاقة: https://hal.science/hal-02064702Test

الإتاحة: https://doi.org/10.1038/nn.3864Test
https://hal.science/hal-02064702Test

المؤلفون: Goaillard, Jean-Marc, Groc, Laurent, Lévi, Sabine, Mantegazza, Massimo, Matifat, Fabrice, Morel, Jean-Luc, Baron-Forster, Anne

المساهمون: Unité de Neurobiologie des canaux Ioniques et de la Synapse (UNIS - Inserm U1072), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Interdisciplinary Institute for Neuroscience Bordeaux (IINS), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physiologie Cellulaire et Moléculaire - UR UPJV 4667 (LPCM), Université de Picardie Jules Verne (UPJV), Institut des Maladies Neurodégénératives Bordeaux (IMN)

المصدر: ISSN: 1933-6950.

مصطلحات موضوعية: cell death, channel regulation, channelopathies, extracellular matrix, ion channel distribution, ion channels, membrane excitability, synaptic plasticity, MESH: Animals, MESH: Channelopathies, MESH: Humans, MESH: Ion Channels, MESH: Ion Pumps, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22647366; hal-00854546; https://hal.science/hal-00854546Test; PUBMED: 22647366; PUBMEDCENTRAL: PMC3431583

الإتاحة: https://doi.org/10.4161/chan.20795Test
https://hal.science/hal-00854546Test

المؤلفون: Mantegazza, Massimo, Rusconi, Raffaella, Scalmani, Paolo, Avanzini, Giuliano, Franceschetti, Silvana

المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS), Department of Neurophysiopathology, Besta Neurological Institute

المصدر: ISSN: 0920-1211.

مصطلحات موضوعية: Epilepsy, Seizures, Excitability, Genetics, Ion currents, Channelopathies, MESH: Animals, MESH: Channelopathies, MESH: Disease Models, Animal, MESH: Epilepsy, MESH: Humans, MESH: Ion Channels, MESH: Mutation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20828990; hal-00854529; https://hal.science/hal-00854529Test; PUBMED: 20828990

الإتاحة: https://doi.org/10.1016/j.eplepsyres.2010.08.003Test
https://hal.science/hal-00854529Test

المؤلفون: Giuliano Avanzini, Raffaella Rusconi, Massimo Mantegazza, Silvana Franceschetti, Paolo Scalmani

المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Department of Neurophysiopathology, Besta Neurological Institute

المصدر: Epilepsy Research
Epilepsy Research, Elsevier, 2010, 92 (1), pp.1-29. ⟨10.1016/j.eplepsyres.2010.08.003⟩

مصطلحات موضوعية: MESH: Mutation, medicine.disease_cause, Ion Channels, 03 medical and health sciences, 0302 clinical medicine, MESH: Channelopathies, Seizures, Genetics, Ion currents, Medicine, Animals, Humans, MESH: Animals, Functional studies, Ion channel, 030304 developmental biology, 0303 health sciences, Mutation, Epilepsy, Excitability, MESH: Humans, business.industry, 3. Good health, Clinical Practice, Disease Models, Animal, Neurology, MESH: Epilepsy, MESH: Ion Channels, Channelopathies, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), MESH: Disease Models, Animal, business, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::583e9ee6da720af4cd710e4f4a2b509bTest
https://hal.archives-ouvertes.fr/hal-00854529Test