المؤلفون: Justine Fraize, Clara Fischer, Monique Elmaleh‐Bergès, Eliot Kerdreux, Anita Beggiato, Alexandra Ntorkou, Edouard Duchesnay, Dhaif Bekha, Odile Boespflug‐Tanguy, Richard Delorme, Lucie Hertz‐Pannier, David Germanaud

المصدر: Human Brain Mapping.

مصطلحات موضوعية: Neurology, Radiological and Ultrasound Technology, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Anatomy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e72eaf4ded9a1df8ecbcbdda2f9ee36eTest
https://doi.org/10.1002/hbm.26348Test

المؤلفون: François Chalard, Anne-Laure Hermann, Monique Elmaleh-Bergès, Hubert Ducou le Pointe

المصدر: Insights into Imaging. 13

مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8a51484519485ce1f613a911b7e1f58Test
https://doi.org/10.1186/s13244-022-01231-6Test

المؤلفون: Ludovic Legros, Homa Adle-Biassette, Blandine Dozières-Puyravel, Suonavy Khung, Monique Elmaleh-Bergès, Gaëtan Lesca, Catherine Delanoë, Valérie Biran, Stéphane Auvin

المصدر: Seizure. 99

مصطلحات موضوعية: Brain Diseases, Epilepsy, Phenotype, Neurology, Mutation, Infant, Newborn, Humans, KCNQ2 Potassium Channel, Epilepsy, Generalized, Neurology (clinical), General Medicine, Infant, Newborn, Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1d8cacfa6645f2d55e0a6bedf1a494Test
https://pubmed.ncbi.nlm.nih.gov/35584591Test

المؤلفون: François Chalard, Anne-Laure Hermann, Monique Elmaleh-Bergès, Hubert Ducou le Pointe

المصدر: Insights into Imaging. 13

مصطلحات موضوعية: stomatognathic diseases, stomatognathic system, Radiology, Nuclear Medicine and imaging

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91532db538eeaa22579df04a8f18126cTest
https://doi.org/10.1186/s13244-022-01166-yTest

المؤلفون: Apolline Imbard, Julie Pernet, Clément Tarrano, Denis Lacroix, Monique Elmaleh-Bergès, Manuel Schiff

المصدر: Molecular genetics and metabolism. 136(2)

مصطلحات موضوعية: Endocrinology, Leukoencephalopathies, Recurrence, Endocrinology, Diabetes and Metabolism, Genetics, COVID-19, Humans, Molecular Biology, Biochemistry, Magnetic Resonance Imaging

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace61fad8260d79e169362dbcbd004d5Test
https://pubmed.ncbi.nlm.nih.gov/35527102Test

المؤلفون: Marie-Cécile Nassogne, Imen Dorboz, Dana Dumitriu, Jean-François Benoist, Agnès Bourillon, Raphaël Helaers, Monique Elmaleh-Bergès, Apolline Imbard, Odile Boespflug-Tanguy, Marie-Françoise Vincent, Emile Van Schaftingen, Joseph P. Dewulf, Manuel Schiff, Alisha Malla, Avner Schlessinger, Ron A. Wevers, Malgorzata Rak, Florence Renaldo, Elsa Wiame

المصدر: Annals of Neurology. 85:385-395

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Mutation, Chemistry, medicine.disease_cause, medicine.disease, Molecular biology, Reverse transcriptase, 3. Good health, Leukoencephalopathy, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Cerebrospinal fluid, Neurology, symbols, medicine, Missense mutation, Choroid plexus, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f95dd7d5c884b463f765a315b275704dTest
https://doi.org/10.1002/ana.25412Test

المؤلفون: Monique Elmaleh-Bergès, Alix Marhic, Thierry Van Den Abbeele, Natacha Teissier, Abdullah Bahakim, Martine François, Rémi Hervochon

المصدر: International journal of pediatric otorhinolaryngology. 139

مصطلحات موضوعية: medicine.medical_specialty, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, 030225 pediatrics, Temporal bone, otorhinolaryngologic diseases, False positive paradox, Medicine, Humans, Medical history, 030223 otorhinolaryngology, Child, Retrospective Studies, Cholesteatoma, Middle Ear, business.industry, Cholesteatoma, Retrospective cohort study, General Medicine, medicine.disease, Predictive value, Magnetic Resonance Imaging, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Etiology, Middle ear, Radiology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168f12c083a6ddc99a1be8bb24ba01d4Test
https://pubmed.ncbi.nlm.nih.gov/33771366Test

المؤلفون: Flore Rozenberg, Richard Delorme, Pierre Ellul, Odile Boespflug-Tanguy, Vincent Bondet, Yanick J. Crow, Theresa Kwon, Darragh Duffy, Isabelle Melki, Monique Elmaleh-Bergès, Séverine Drunat, Anaël Ayrolles, Florence Renaldo

المساهمون: Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Centre de référence des leucodystrophies et leucoencéphalopathies de cause rare [AP-HP Hôpital Robert-Debré] (LEUKOFRANCE), Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de radiologie pédiatrique [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Néphrologie pédiatrique [Hôpital Robert Debré, Paris], Service de Virologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, Centre de référence des rhumatismes inflammatoires et maladies autoimmunes systémiques rares de l'enfant [Paris] (RAISE), Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], CHU Necker - Enfants Malades [AP-HP], We acknowledge the contribution of the General Paediatrics, Infectious Disease and Internal Medicine Department, the Child and Adolescent Psychiatry Department, the Child Neurology Department, the Pediatric Nephrology Department and the Genetics Department of Robert Debre Hospital. We thank the patient and his family members for allowing us to report the findings of his case., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: Schizophrenia Research
Schizophrenia Research, Elsevier, 2020, Online ahead of print, ⟨10.1016/j.schres.2020.05.064⟩
Schizophrenia Research, 2020, Online ahead of print, ⟨10.1016/j.schres.2020.05.064⟩
Ayrolles, A, Ellul, P, Renaldo, F, Boespflug, O, Delorme, R, Drunat, S, Elmaleh-Berges, M, Kwon, T, Rozenberg, F, Bondet, V, Duffy, D, Crow, Y & Melki, I 2020, ' Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption ', Schizophrenia Research . https://doi.org/10.1016/j.schres.2020.05.064Test

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Catatonia, Alpha interferon, Interstitial lung disease, Aicardi-Goutières syndrome, Nervous System Malformations, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, 0302 clinical medicine, medicine, Humans, Immunoadsorption, Biological Psychiatry, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, Interferon-alpha, medicine.disease, 3. Good health, Psychiatry and Mental health, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Aicardi–Goutières syndrome, [SDV.IMM]Life Sciences [q-bio]/Immunology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, 030217 neurology & neurosurgery

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5690ce06a033f55e05386c5184185d7Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-02900829Test

المؤلفون: Georg F. Hoffmann, Chong Ae Kim, David J. Amor, Monique Elmaleh-Bergès, Axel Neu, João Paulo Kitajima, Fernando Kok, Anne Claude Tabet, Lance H. Rodan, Tim M. Strom, Laurence Perrin, Henry Houlden, Michael C. Kruer, Maja Hempel, Matias Wagner, Mehran Beiraghi Toosi, Yue C. Si, Eva Pipiras, Jonathan Levy, Ehsan Ghayoor Karimiani, Tatjana Bierhals, Fabíola Paoli Monteiro, Hanka Venselaar, Reza Maroofian, Mohammad Doosti, Julia G. Salomao, Sheng Chih Jin, Sabine Jung-Klawitter, Thomas Opladen, Somayeh Bakhtiari, Saskia B. Wortmann, Monica S Cooper

المصدر: Genetics in Medicine, 22, 1061-1068
Genet. Med. 22, 1061-1068 (2020)
Genetics in Medicine, 22, 6, pp. 1061-1068

مصطلحات موضوعية: Central Nervous System, Opisthotonus, Homozygote, Tnr, Spastic Tetraparesis, Cerebral Palsy, Exome Sequencing, Developmental Disorder, Biology, medicine.disease, Extracellular Matrix, Developmental disorder, Neurodevelopmental disorder, Muscle Spasticity, Neurodevelopmental Disorders, medicine, Humans, Tenascin-R, Spastic tetraparesis, Missense mutation, Spasticity, medicine.symptom, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Neuroscience, Genetics (clinical), Exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47343478697bea7b38019996b84eb41Test

المؤلفون: Monique Elmaleh-Bergès, Thierry Van Den Abbeele

المصدر: Le Nerf Facial : de la Paralysie Faciale à la Réhabilitation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1ed70ab879270b536fd545d0a0cac37dTest
https://doi.org/10.1016/b978-2-294-77444-7.00017-3Test