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1دورية أكاديمية
المؤلفون: Carolina Ciumas, Alexandra Montavont, Faustine Ilski, Agathe Laurent, Mani Saignavongs, Jean-Philippe Lachaux, Julitta de Bellescize, Eleni Panagiotakaki, Karine Ostrowsky-Coste, Vania Herbillon, Danielle Ibarrola, Marc Hermier, Alexis Arzimanoglou, Philippe Ryvlin
المصدر: NeuroImage: Clinical, Vol 28, Iss , Pp 102392- (2020)
مصطلحات موضوعية: Rolandic epilepsy, BCECTS, Working memory, fMRI, Children with epilepsy, Verbal, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
المؤلفون: Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle
المصدر: BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Arthrogryposis, Epilepsy, Movement Disorders, gain of function, Migraine with Aura, Infant, Newborn, Infant, Epilepsies, Myoclonic, arthrogryposis, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Gain of Function Mutation, epilepsy, Humans, SCN1A, movement disorder, Neurology (clinical), Spasms, Infantile
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d78f9a1dfb34105b40b0c635c1e599
https://doi.org/10.1093/brain/awac210 -
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المؤلفون: Eleni Panagiotakaki, Maria T Papadopoulou, Gaetan Lesca, Alexis Arzimanoglou, Mohamad A Mikati
المصدر: Brain.
مصطلحات موضوعية: Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c232e0dd7e0daac3e1ba6751dc827196
https://doi.org/10.1093/brain/awad053 -
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المؤلفون: Quentin Welniarz, Domitille Gras, Agathe Roubertie, Maria T. Papadopoulou, Eleni Panagiotakaki, Emmanuel Roze
المصدر: Movement Disorders.
مصطلحات موضوعية: Neurology, Neurology (clinical)
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المؤلفون: Emanuele, Cerulli Irelli, Enrico, Cocchi, Georgia, Ramantani, Antonella, Riva, Roberto H, Caraballo, Alessandra, Morano, Loretta, Giuliano, Tülay, Yilmaz, Eleni, Panagiotakaki, Francesca F, Operto, Beatriz Gonzalez, Giraldez, Simona, Balestrini, Katri, Silvennoinen, Sara, Casciato, Marion, Comajuan, Francesco, Fortunato, Anna T, Giallonardo, Rimma, Gamirova, Antonietta, Coppola, Giancarlo, Di Gennaro, Angelo, Labate, Vito, Sofia, Gerhard J, Kluger, Antonio, Gambardella, Dorothee, Kasteleijn-Nolst Trenite, Betul, Baykan, Sanjay M, Sisodiya, Alexis, Arzimanoglou, Pasquale, Striano, Carlo, Di Bonaventura, Gunes, Altıokka-Uzun
المصدر: Epilepsia.
مصطلحات موضوعية: Jeavons Syndrome, classification, eyelid myoclonia with absences (EMA), idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), Neurology, Neurology (clinical)
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المؤلفون: Lionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, Julitta de Bellescize, Nicolas Chatron, Marie Faoucher, Anne de Saint Martin, Delphine Héron, Guillaume Jedraszak, Caroline Lacoste, Anne-Sophie Lèbre, Mélanie Jenneson-Lyver, Audrey Labalme, Eric Leguern, Cyril Mignot, Mathieu Milh, Rima Nabbout, Caroline Nava, Eleni Panagiotakaki, Amélie Piton, Elise Schaefer, Julien Thevenon, Laurent Villard, Dorothée Ville, Gaetan Lesca
المساهمون: HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-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), 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)
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Epilepsy, High-Throughput Nucleotide Sequencing, Nerve Tissue Proteins, General Medicine, Potassium Channels, Sodium-Activated, Cadherins, Protocadherins, Epilepsy Monogenic Mendelian Next-generation sequencing Gene panel Whole-genome sequencing, Mutation, Genetics, Humans, Genetic Predisposition to Disease, France, Genetic Testing, Child, Genetics (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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المؤلفون: Alexis Arzimanoglou, Julitta de Bellescize, Olivier Claris, Dominique Gauthier-Morel, Karine Ostrowsky-Coste, Eleni Panagiotakaki, Pascale Keo-Kosal, Zeynep Gokce-Samar, Alexandra Montavont
المساهمون: Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME)
المصدر: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2019, 23, pp.270-279. ⟨10.1016/j.ejpn.2019.01.006⟩مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Encephalopathy, Physical examination, Neurological examination, Status epilepticus, Hypoglycemia, Infant, Newborn, Diseases, Hypoxic Ischemic Encephalopathy, Cohort Studies, 03 medical and health sciences, Status Epilepticus, 0302 clinical medicine, Risk Factors, Seizures, 030225 pediatrics, medicine, Humans, Retrospective Studies, Neurologic Examination, Univariate analysis, medicine.diagnostic_test, business.industry, Infant, Newborn, Electroencephalography, General Medicine, Prognosis, medicine.disease, 3. Good health, Hypoxia-Ischemia, Brain, Multivariate Analysis, Pediatrics, Perinatology and Child Health, Cohort, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Milton Pratt, Julie Uchitel, Blaire Rikard, Linh Tran, Joan Jasien, Rosaria Vavassori, Carmen Fons, Elisa De Grandis, Keri Wallace, Alexis Arzimanoglou, Isabella Cocco, Erin L. Heinzen, Lyndsey Prange, Eleni Panagiotakaki, Maria T Papadopoulou, Mohamad A. Mikati, Laura Caligiuri, David Goldstein, Arsen S. Hunanyan, Rebecca Moré, Tavis Abrahamsen, Aikaterini Vezyroglou
المصدر: Brain Communications
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Gross motor skill, Disease, Electroencephalography, Neurodevelopmental disorder, ATP1A3, Intellectual disability, disability, Mashlool D801N mouse, medicine, medicine.diagnostic_test, AcademicSubjects/SCI01870, business.industry, Alternating hemiplegia of childhood, General Engineering, medicine.disease, disability, Cohort, alternating hemiplegia of childhood, progression, Original Article, AcademicSubjects/MED00310, Mashlool D801N mouse, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7032e328a3a3fec7aacc80bd733452
http://hdl.handle.net/11567/1076306 -
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المؤلفون: Eleni Panagiotakaki, Mohamad A. Mikati, Alexis Arzimanoglou
المصدر: European Journal of Paediatric Neurology. 32:A4-A5
مصطلحات موضوعية: Dystonia, medicine.medical_specialty, Movement disorders, Abnormal eye movements, business.industry, Alternating hemiplegia of childhood, Hemiplegia, General Medicine, medicine.disease, Epilepsy, Physical medicine and rehabilitation, ATP1A3, Mutation, Pediatrics, Perinatology and Child Health, medicine, Humans, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, medicine.symptom, business, Alternating hemiplegia
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المؤلفون: Julitta de Bellescize, Vania Herbillon, Agathe Laurent, Faustine Ilski, Alexandra Montavont, Jean-Philippe Lachaux, Philippe Ryvlin, Karine Ostrowsky-Coste, Alexis Arzimanoglou, Carolina Ciumas, Mani Saignavongs, Marc Hermier, Danielle Ibarrola, Eleni Panagiotakaki
المساهمون: Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Des Épilepsies de l'Enfant et l'adolescent (IDÉE), Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d'Etude et de Recherche Multimodal Et Pluridisciplinaire en imagerie du vivant (CERMEP - imagerie du vivant), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], CCSD, Accord Elsevier, Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)
المصدر: NeuroImage. Clinical, vol. 28, pp. 102392
NeuroImage: Clinical, Vol 28, Iss, Pp 102392-(2020)
NeuroImage : Clinical
Neuroimage-Clinical
Neuroimage-Clinical, 2020, 28, pp.102392-. ⟨10.1016/j.nicl.2020.102392⟩
Neuroimage-Clinical, Elsevier, 2020, 28, pp.102392-. ⟨10.1016/j.nicl.2020.102392⟩مصطلحات موضوعية: medicine.medical_specialty, BCECTS, Children with epilepsy, Rolandic epilepsy, Verbal, Working memory, fMRI, [SDV]Life Sciences [q-bio], Cognitive Neuroscience, Audiology, Neuropsychological Tests, lcsh:Computer applications to medicine. Medical informatics, behavioral disciplines and activities, 050105 experimental psychology, Lateralization of brain function, lcsh:RC346-429, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, mental disorders, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Child, lcsh:Neurology. Diseases of the nervous system, Neural correlates of consciousness, Brain Mapping, medicine.diagnostic_test, business.industry, 05 social sciences, Neuropsychology, Brain, Regular Article, medicine.disease, Magnetic Resonance Imaging, [SDV] Life Sciences [q-bio], Behavioral data, Memory, Short-Term, Neurology, lcsh:R858-859.7, Neurology (clinical), Functional magnetic resonance imaging, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf