المؤلفون: Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/bbc1baaa0cad458284efc798bb89f556

المؤلفون: Maria-Belen Lopez-Herdoiza, Stephanie Bauché, Baptiste Wilmet, Caroline Le Duigou, Delphine Roussel, Magali Frah, Jonas Béal, Gabin Devely, Susana Boluda, Petra Frick, Delphine Bouteiller, Sébastien Dussaud, Pierre Guillabert, Carine Dalle, Magali Dumont, Agnes Camuzat, Dario Saracino, Mathieu Barbier, Gaelle Bruneteau, Phillippe Ravassard, Manuela Neumann, Sophie Nicole, Isabelle Le Ber, Alexis Brice, Morwena Latouche

المصدر: Frontiers in Cellular Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: TDP-43, C9ORF72, FTD (frontotemporal dementia), ALS (amyotrophic lateral sclerosis), autophagy/lysosomal pathway, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2023.1155929/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/cf47ec065e0e43cbbe6e3408fa24d68b

المؤلفون: Cynthia Lefebvre-Omar, Elise Liu, Carine Dalle, Boris Lamotte d’Incamps, Stéphanie Bigou, Clément Daube, Léa Karpf, Marc Davenne, Noémie Robil, Coline Jost Mousseau, Stéphane Blanchard, Guillaume Tournaire, Charles Nicaise, François Salachas, Lucette Lacomblez, Danielle Seilhean, Christian S. Lobsiger, Stéphanie Millecamps, Séverine Boillée, Delphine Bohl

المصدر: Cellular and Molecular Life Sciences. 80(6)

مصطلحات موضوعية: Pharmacology, Motoneurons, Cellular and Molecular Neuroscience, Neurofilaments, Degeneration, Molecular Medicine, Human induced pluripotent stem cells, Cell Biology, Amyotrophic lateral sclerosis, Axonal initial segment, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9241a069d90d56f0a5743b4beab6cc4f
https://researchportal.unamur.be/en/publications/1672c689-1bad-4fe9-b966-646d619244cd

المؤلفون: Sylvia A. Huisman, Fanny Mochel, Christel Depienne, Roberto Canitano, Sara S. Cathey, Kimberly Nugent, Konrad Platzer, Katherine L. Helbig, Deepali N. Shinde, Diego Lopergolo, Sandra Yang, Francesca Mari, Astrid S. Plomp, Berten Ceulemans, Sarah Weckhuysen, Agnès Rastetter, Nadja Ehmke, Julien Thevenon, Rami Abou Jamra, Elisa Benetti, Daniela del Gaudio, Elizabeth Roeder, Darrel Waggoner, Raymond J. Louie, Shawn Kacker, Manuel Holtgrewe, Alessandra Renieri, Susanne B. Kamphausen, Denise Horn, Ange Line Bruel, Carine Dalle, Quinten Waisfisz, Frank J. Kaiser, Golder N. Wilson

المساهمون: Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Human Genetics, Paediatric Genetics

المصدر: Brain, 143(12), 3564-3573
Brain, 143(12), 3564-3573. Oxford University Press
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R, Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder, E R, Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R, Weckhuysen, S, Dalle, C & Depienne, C 2020, ' Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders ', Brain, vol. 143, no. 12, pp. 3564-3573 . https://doi.org/10.1093/brain/awaa346

مصطلحات موضوعية: Male, 0301 basic medicine, Patch-Clamp Techniques, Movement disorders, Small-Conductance Calcium-Activated Potassium Channels, Medizin, Haploinsufficiency, 0302 clinical medicine, Missense mutation, Exome, Child, Frameshift Mutation, Exome sequencing, Genetics, Movement Disorders, Learning Disabilities, Middle Aged, Magnetic Resonance Imaging, White Matter, developmental delay, Child, Preschool, medicine.symptom, SK2 channel, KCNN2, ataxia, tremor, Adolescent, Adult, Cerebellar Ataxia, Electrophysiological Phenomena, Genetic Variation, Humans, Intellectual Disability, Mutation, Missense, Neurodevelopmental Disorders, Young Adult, Ataxia, Biology, Frameshift mutation, 03 medical and health sciences, medicine, Preschool, Cerebellar ataxia, 030104 developmental biology, Mutation, Neurology (clinical), Missense, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b551b10bc02401ad4456584c23c15da4
https://doi.org/10.1093/brain/awaa346

المؤلفون: Nazha Sidahmed-Adrar, Olivier Stettler, Damien Habert, T.H. van Kuppevelt, Patrick P. Michel, Walid Redouane, Magda Hamza, José Courty, Mohand Ouidir Ouidja, Auriane Maïza, Carine Dalle, Sandrine Chantepie, Gilles Carpentier, Dulce Papy-Garcia

المساهمون: Croissance cellulaire, réparation et régénération tissulaires (CRRET), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Radboud University Medical Center [Nijmegen], Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Gestionnaire, Hal Sorbonne Université

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.19114. ⟨10.1038/s41598-020-76030-4⟩
Scientific Reports, 10, 1
Scientific Reports, 2020, 10 (1), pp.19114. ⟨10.1038/s41598-020-76030-4⟩
Scientific Reports, 10

مصطلحات موضوعية: Nervous system, Neurogenesis, [SDV]Life Sciences [q-bio], Synaptogenesis, lcsh:Medicine, Peptide, Hippocampus, Interactome, Article, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Animals, Receptor, lcsh:Science, Cells, Cultured, 030304 developmental biology, Neurons, chemistry.chemical_classification, 0303 health sciences, Multidisciplinary, integumentary system, Cell adhesion molecule, lcsh:R, Glutamate receptor, Development of the nervous system, Heparan sulfate, Synaptic development, 3. Good health, Cell biology, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], chemistry, Synapses, lcsh:Q, Heparitin Sulfate, Sulfotransferases, Heparan Sulfate Proteoglycans, 030217 neurology & neurosurgery, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3920d7ce994c5c36827e950b1b3debba
http://link.springer.com/article/10.1038/s41598-020-76030-4

المؤلفون: Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P.A. Stegmann, Els K. Vanhoutte, Job A.J Verdonshot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G.M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e21c3ec05e6add7614b086357f2451f
https://doi.org/10.1101/2022.02.16.22270779

المؤلفون: Shigehisa Mitake, Hiroyuki Yuasa, Tomomasa Ikeda, Carine Dalle, Masanori P. Takahashi, Hideki Mochizuki, Yosuke Kokunai, Yuto Uchida, Bertrand Fontaine, Tomoya Kubota, Hideki Kato, Yuta Madokoro, Sophie Nicole

المصدر: Journal of the Neurological Sciences. 369:254-258

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Nav1.4, DNA Mutational Analysis, Biology, Myotonia, 03 medical and health sciences, 0302 clinical medicine, Channelopathy, Chloride Channels, Internal medicine, medicine, Humans, NAV1.4 Voltage-Gated Sodium Channel, CLCN1, Electromyography, Myotonia congenita, Periodic paralysis, Evoked Potentials, Motor, medicine.disease, 030104 developmental biology, Endocrinology, Neurology, Paramyotonia congenita, Mutation, Exercise Test, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c570207669fcc0efc33957f79f258d4
https://doi.org/10.1016/j.jns.2016.08.030

المؤلفون: Shoji Ichikawa, Ilaria Rivolta, Anna Binda, Laurie S. Sadler, Sonia Figueiroa, Renzo Guerrini, Annick Laridon, Pasquale Striano, Katalin Sterbova, Bina Santoro, Petra Laššuthová, Maria Margherita Mancardi, Francesca Ragona, Anna Rosati, Fernando Kok, Laura Canafoglia, Daniele Frattini, Elena Freri, Christine Coubes, Davide Mei, Bobby P. C. Koeleman, Daniel Bauer, Carla Marini, Christel Depienne, Carlotta Spagnoli, Sophie Scheidecker, Carlo Fusco, Tiziana Granata, Barbara Castellotti, Eva H. Brilstra, Federico Melani, Cristina Garrido, Cinzia Gellera, A. Micheil Innes, Wilfrid Carré, Christèle Dubourg, Elena Parrini, Alessandro Porro, Caroline Nava, Maria Giardino, Sophie Julia, Manuela Santos, Yves Alembik, Eric LeGuern, Andrea Barbuti, Silvana Franceschetti, Federico Zara, Paul Kuentz, Raffaella Milanesi, Catherine Mercer, Carine Dalle, Julien Thevenon, Nicolas Deconinck, Agnès Rastetter, Laurent Pasquier, Kay Hamacher, Renske Oegema, Gerhard Thiel, Dario DiFrancesco, Tiziana Pisano, Chelsea Chambers, Jacopo C. DiFrancesco, Guillaume Smits, Katherine L. Helbig, Julie Soblet, Jana Neupauerová, Damien R Clark, Johannes R. Lemke, Radhika Dhamija, Anna Moroni

المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University Medical Center [Utrecht], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Génétique des Anomalies du Développement (GAD), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], CHU Pontchaillou [Rennes], Les Hôpitaux Universitaires de Strasbourg (HUS), Children’s Hospital of Philadelphia (CHOP ), University Hospital Motol [Prague], University of Genoa (UNIGE), Université libre de Bruxelles (ULB), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Marini, C, Porro, A, Rastetter, A, Dalle, C, Rivolta, I, Bauer, D, Oegema, R, Nava, C, Parrini, E, Mei, D, Mercer, C, Dhamija, R, Chambers, C, Coubes, C, Thévenon, J, Kuentz, P, Julia, S, Pasquier, L, Dubourg, C, Carré, W, Rosati, A, Melani, F, Pisano, T, Giardino, M, Innes, A, Alembik, Y, Scheidecker, S, Santos, M, Figueiroa, S, Garrido, C, Fusco, C, Frattini, D, Spagnoli, C, Binda, A, Granata, T, Ragona, F, Freri, E, Franceschetti, S, Canafoglia, L, Castellotti, B, Gellera, C, Milanesi, R, Mancardi, M, Clark, D, Kok, F, Helbig, K, Ichikawa, S, Sadler, L, Neupauerová, J, Laššuthova, P, Šterbová, K, Laridon, A, Brilstra, E, Koeleman, B, Lemke, J, Zara, F, Striano, P, Soblet, J, Smits, G, Deconinck, N, Barbuti, A, Difrancesco, D, Leguern, E, Guerrini, R, Santoro, B, Hamacher, K, Thiel, G, Moroni, A, Di Francesco, J, Depienne, C

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Models, Molecular, Potassium Channels, [SDV]Life Sciences [q-bio], Medizin, medicine.disease_cause, Epileptogenesis, Membrane Potentials, Epilepsy, 0302 clinical medicine, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Missense mutation, Child, Genetics, Mutation, Middle Aged, Phenotype, 3. Good health, Transmembrane domain, clinical spectrum, epilepsy, HCN1, intellectual disability, ion channel, Child, Preschool, Epilepsy, Generalized, Female, Spasms, Infantile, Adult, Adolescent, CHO Cells, Biology, 03 medical and health sciences, Young Adult, Cricetulus, medicine, Animals, Humans, Generalized epilepsy, Genetic Association Studies, Aged, Infant, medicine.disease, Electric Stimulation, 030104 developmental biology, Mutagenesis, Site-Directed, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a81d4853ace04d224a5bc24dae47347
https://hal.sorbonne-universite.fr/hal-01977974/document

المؤلفون: Yosuke, Kokunai, Carine, Dalle, Savine, Vicart, Damien, Sternberg, Valérie, Pouliot, Said, Bendahhou, Emmanuel, Fournier, Mohamed, Chahine, Bertrand, Fontaine, Sophie, Nicole

المصدر: Scientific Reports

مصطلحات موضوعية: Adult, Male, Calcium Channels, L-Type, Hypokalemic Periodic Paralysis, Voltage-Gated Sodium Channels, Article, HEK293 Cells, Chloride Channels, Mutation, Potassium, Humans, Calcium Channels, NAV1.4 Voltage-Gated Sodium Channel, Potassium Channels, Inwardly Rectifying

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f27b51a6cef510ee2e2cb0921a11ed48
https://pubmed.ncbi.nlm.nih.gov/30420713

المؤلفون: Cécile Delarasse, Carine Dalle, Benoît Delatour, Annett Halle, Elodie Martin, Majid Amar, Jean Kanellopoulos, Véronique Sazdovitch, Bertrand Fontaine, Matthias Brückner, Ihsen Youssef, Annick Prigent, Céline Boucher, Caroline Le Duigou

المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Max Planck Research Group Neuroanatomy and Connectivity, Max Planck Institute for Human Cognitive and Brain Sciences [Leipzig] (IMPNSC), Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-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), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Myologie

المصدر: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, In press, ⟨10.1038/s41380-018-0108-3⟩
Molecular psychiatry 24(1), 108-125 (2018). doi:10.1038/s41380-018-0108-3
Molecular Psychiatry, In press, ⟨10.1038/s41380-018-0108-3⟩

مصطلحات موضوعية: 0301 basic medicine, Inflammasomes, Physiology, metabolism [NLR Family, Pyrin Domain-Containing 3 Protein], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Interleukin-1beta, genetics [Interleukin-1beta], genetics [Alzheimer Disease], Diseases, metabolism [Receptors, Purinergic P2X7], APP protein, human, P2rx7 protein, mouse, Chemokine receptor, Amyloid beta-Protein Precursor, Mice, 0302 clinical medicine, metabolism [Amyloid beta-Protein Precursor], Amyloid precursor protein, Receptor, biology, Chemistry, Purinergic receptor, Inflammasome, Cell biology, Psychiatry and Mental health, genetics [Receptors, Purinergic P2X7], genetics [Amyloid beta-Protein Precursor], Cytokines, Cell activation, metabolism [Alzheimer Disease], medicine.drug, Mice, Transgenic, Neuroprotection, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, metabolism [Interleukin-1beta], Alzheimer Disease, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, Animals, Humans, ddc:610, P2RX7 protein, human, Molecular Biology, metabolism [Cytokines], Disease Models, Animal, 030104 developmental biology, Synaptic plasticity, biology.protein, Receptors, Purinergic P2X7, metabolism [Inflammasomes], 030217 neurology & neurosurgery, Neuroscience

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d470686cb1fd57d884fafdbcb97cb35b
https://pubmed.ncbi.nlm.nih.gov/29934546