المؤلفون: Jana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, Nathalie Dorison, Serena Galosi, Giacomo Garone, Masa Malenica, Claudia Ravelli, Esra Serdaroglu, Laura A. van de Pol, Anne Koy, Vincenzo Leuzzi, Agathe Roubertie, Jean-Pierre Lin, Diane Doummar, Laura Cif, Juan Darío Ortigoza-Escobar

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: GNAO1, dyskinetic crisis, movement disorders, deep brain stimulation, dystonia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1403815/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6Test

المؤلفون: Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen

المساهمون: CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Amiens-Picardie, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩

مصطلحات موضوعية: phenotype, genotype, [SDV]Life Sciences [q-bio], cerebellar diseases, Genetics, nervous system malformations, Genetics (clinical), genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdd9d723f406e4699bfc181bb3ad558dTest
https://hal.science/hal-03837222/documentTest

المؤلفون: Cécile Cieuta-Walti, Aude Pichot, Jennifer Gallard, Silvia Sacco, Isabelle Marey, Clotilde Mircher, Elodie Blondiaux, Franck Sturtz, Aimé Ravel, Charles Bouis, Nathalie Dorison

المصدر: American Journal of Medical Genetics Part A. 188:818-827

مصطلحات موضوعية: Psychomotor learning, Pediatrics, medicine.medical_specialty, Down syndrome, business.industry, Infant, Repeated measures design, Placebo, medicine.disease, Language Development, Language development, Cognition, Child, Preschool, Post-hoc analysis, Genetics, medicine, Clinical endpoint, Humans, Prospective Studies, Early childhood, Down Syndrome, Child, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d56fa80db9f786eede3adba18653b6Test
https://doi.org/10.1002/ajmg.a.62587Test

المؤلفون: Sarah Dominique Rosenberg, Delphine Taussig, Pia Vayssiere, Mathilde Chipaux, Emmanuel Raffo, Sarah Ferrand-Sorbets, Christine Bulteau, Nathalie Dorison, Julie Bonheur, Marie-Therese Dangles, Anais Chivet, Georg Dorfmuller

المصدر: Clinical Neurophysiology. 150:e161

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::13d424181182a8ad1319c3db9b5e3f28Test
https://doi.org/10.1016/j.clinph.2023.03.264Test

المؤلفون: Madeleine, Harion, Leila, Qebibo, Audrey, Riquet, Christelle, Rougeot, Alexandra, Afenjar, Catherine, Garel, Malek, Louha, Emmanuelle, Lacaze, Frédérique, Audic-Gérard, Magali, Barth, Patrick, Berquin, Dominique, Bonneau, Frédéric, Bourdain, Tiffany, Busa, Estelle, Colin, Jean-Marie, Cuisset, Vincent, Des Portes, Nathalie, Dorison, Christine, Francannet, Bénédicte, Héron, Cécile, Laroche, Marine, Lebrun, Julia, Métreau, Sylvie, Odent, Laurent, Pasquier, Yaumara Perdomo, Trujillo, Laurine, Perrin, Lucile, Pinson, François, Rivier, Sabine, Sigaudy, Christel, Thauvin-Robinet, Ulrike Walther, Louvier, Olivier, Labayle, Diana, Rodriguez, Stéphanie, Valence, Lydie, Burglen

المصدر: Journal of medical genetics.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7c1b850603130caa7309c09f8580aeffTest
https://pubmed.ncbi.nlm.nih.gov/36319078Test

المؤلفون: Stanislas J. Smajda, Michael Söderman, Georg Dorfmüller, Nathalie Dorison, Marie-Claire Nghe, Georges L. Rodesch

المصدر: Brain Communications. 4

مصطلحات موضوعية: General Engineering

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422178531fa99ceb3946e02a418fc6e6Test
https://doi.org/10.1093/braincomms/fcac043Test

المؤلفون: Delphine Taussig, Olivier Bekaert, Mathilde Chipaux, Martine Fohlen, Georg Dorfmüller, Sarah Ferrand-Sorbets, Nathalie Dorison

المصدر: Seizure. 77:43-51

مصطلحات موضوعية: Drug Resistant Epilepsy, medicine.medical_specialty, Bone thickness, Adolescent, Stereoelectroencephalography, Stereotaxic Techniques, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Eloquent cortex, Electrocoagulation, Polymicrogyria, Humans, Medicine, Epilepsy surgery, Child, business.industry, General Medicine, Semiology, medicine.disease, Epileptogenic zone, Neurology, Child, Preschool, Electrocorticography, Epilepsies, Partial, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c31ee76e451a700bcd0b77a58272cd38Test
https://doi.org/10.1016/j.seizure.2018.11.008Test

المؤلفون: Christine Bulteau, Nathalie Dorison, Georg Dorfmüller, Mathilde Chipaux, Pauline Chamard, Mikael Levy, Martin Tisdall, Sarah Ferrand-Sorbets, Martine Fohlen, Kevin Zuber, Delphine Taussig, Olivier Bekaert, Olivier Delalande

المصدر: Seizure. 75:28-33

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Time Factors, Hamartoma, Single Center, Stereotaxic Techniques, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Hypothalamic hamartoma, Median follow-up, Gelastic seizure, Outcome Assessment, Health Care, medicine, Humans, Child, Retrospective Studies, business.industry, Seizure types, Infant, Seizure outcome, General Medicine, Prognosis, medicine.disease, Neurology, Child, Preschool, Neuroendoscopy, Female, Neurology (clinical), medicine.symptom, business, Hypothalamic Diseases, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c094ed404e6d925a784303f6c0d836eeTest
https://doi.org/10.1016/j.seizure.2019.11.013Test

المؤلفون: Sarah Ferrand-Sorbets, Georg Dorfmüller, Nathalie Dorison, Martine Fohlen, Mathilde Chipaux, Delphine Taussig

المصدر: Seizure. 71:190-200

مصطلحات موضوعية: Male, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Population, Status epilepticus, Sleep, Slow-Wave, 03 medical and health sciences, Epilepsy, Status Epilepticus, 0302 clinical medicine, Outcome Assessment, Health Care, medicine, Polymicrogyria, Humans, Cognitive Dysfunction, Cognitive decline, Child, education, Retrospective Studies, education.field_of_study, Slow sleep, business.industry, Cognition, General Medicine, medicine.disease, Paresis, Hemiparesis, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b3faf4ee7a17c4cce6ed6e7970d3a4Test
https://doi.org/10.1016/j.seizure.2019.07.017Test

المؤلفون: Helen Cross, Martin Tisdall, Stewart Boyd, Nathalie Dorison, Mathilde Chipaux, Sarah Ferrand-Sorbets, Christin Eltze, Delphine Taussig, Rachel Thornton, Georg Dorfmüller, Martine Fohlen

المصدر: Seizure. 70:63-70

مصطلحات موضوعية: Drug Resistant Epilepsy, medicine.medical_specialty, Multivariate analysis, Adolescent, medicine.medical_treatment, Stereoelectroencephalography, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Radiofrequency thermocoagulation, Refractory, Seizures, Electrocoagulation, medicine, Humans, Epilepsy surgery, Prospective Studies, Child, business.industry, Brain, Infant, General Medicine, Radiofrequency Therapy, medicine.disease, Treatment Outcome, Neurology, Epilepsy in children, Child, Preschool, Quality of Life, Feasibility Studies, Epilepsies, Partial, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery, Paediatric population

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b72fbf968002edff6d27ad29832fce2Test
https://doi.org/10.1016/j.seizure.2019.07.004Test