يعرض 1 - 10 نتائج من 86 نتيجة بحث عن '"Dorothée, Ville"', وقت الاستعلام: 0.84s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature

    المؤلفون: Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti

    المصدر: Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)

    مصطلحات موضوعية: ADSL deficiency, EEG patterns, epilepsy, genotype‐phenotype correlation, monogenic diseases, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2470-9239

    URL الوصول: https://doaj.org/article/824525d7bb3b493c91fbe235e276060d

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  2. 2
    دورية أكاديمية
    Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R

    المؤلفون: Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Silja T. Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M. Korff, Vladimir L. Katanaev

    المصدر: Cells, Vol 12, Iss 20, p 2469 (2023)

    مصطلحات موضوعية: pediatric encephalopathy, GNAO1, G proteins, Gαo, dominant mutation, case report, Cytology, QH573-671

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4409/12/20/2469; https://doaj.org/toc/2073-4409

    URL الوصول: https://doaj.org/article/340e7995a0fb4dbcb49206d3c3eb6a16

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  3. 3
    دورية أكاديمية
    KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

    المؤلفون: Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen

    المصدر: EBioMedicine, Vol 81, Iss , Pp 104130- (2022)

    مصطلحات موضوعية: KCNQ2, Gain-of-function, Amitriptyline, Autism, Developmental and epileptic encephalopathy, Medicine, Medicine (General), R5-920

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2352396422003115; https://doaj.org/toc/2352-3964

    URL الوصول: https://doaj.org/article/27289a7516ba4ba9b422fb966fcb4594

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  4. 4
    دورية أكاديمية
    Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

    المؤلفون: Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca

    المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

    مصطلحات موضوعية: Schizophrenia, Childhood onset schizophrenia, CHD2, Genetic counselling, Chromatin, Chromodomain helicase DNA-binding, Internal medicine, RC31-1245, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1471-2350

    URL الوصول: https://doaj.org/article/5729d532dd9647dfafac61eb5dbf6537

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  5. 5
    De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

    المؤلفون: Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters

    المصدر: Genetics in Medicine. 24:2464-2474

    مصطلحات موضوعية: Epilepsy, Autism Spectrum Disorder, Developmental Disabilities, Intellectual Disability, Ubiquitin-Protein Ligases, Mutation, Missense, Humans, Child, Seizures, Febrile, Genetics (clinical), Adaptor Proteins, Signal Transducing

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8667d6e12377ca40b4af5f3614b402
    https://doi.org/10.1016/j.gim.2022.08.020

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  6. 6
    دورية أكاديمية
    Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study

    المؤلفون: Gianluca D'Onofrio, Mathieu Kuchenbuch, Caroline Hachon-Le Camus, Béatrice Desnous, Véronique Staath, Sylvia Napuri, Dorothée Ville, Jean-Michel Pedespan, Anne Lépine, Claude Cances, Anne de Saint-Martin, Théo Teng, Nicole Chemaly, Mathieu Milh, Nathalie Villeneuve, Rima Nabbout

    المصدر: Frontiers in Neurology, Vol 11 (2020)

    مصطلحات موضوعية: Dravet, Lennox-Gastaut, adverse events, liver function, tolerability, drug resistant, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00829/full; https://doaj.org/toc/1664-2295

    URL الوصول: https://doaj.org/article/946741ae3acd4014b6742f9e65a17c3e

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  7. 7
    PREDICTING OUTCOME OF CONGENITAL CYTOMEGALOVIRUS INFECTION BY DIFFERENTIATING AND REVISITING SEVERE VERSUS MILD PRENATAL IMAGING FEATURES

    المؤلفون: Mona Massoud, Maude Chollet, Sara Cabet, Marine Butin, Yahia Mekki, Geneviève Lina-Granade, Axel Fichez, Jocelyne Attia, Dorothée Ville, Laurent Guibaud

    المصدر: Fetal Diagnosis and Therapy.

    مصطلحات موضوعية: Embryology, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Radiology, Nuclear Medicine and imaging, General Medicine

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3dd366837dfce655ee71edaea2d4ab1a
    https://doi.org/10.1159/000527921

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  8. 8
    Molecular and clinical descriptions of patients with GABA

    المؤلفون: Pierre-Yves, Maillard, Sarah, Baer, Élise, Schaefer, Béatrice, Desnous, Nathalie, Villeneuve, Anne, Lépine, Alexandre, Fabre, Caroline, Lacoste, Salima, El Chehadeh, Amélie, Piton, Louise Frances, Porter, Caroline, Perriard, Marie-Thérèse Abi, Wardé, Marie-Aude, Spitz, Vincent, Laugel, Gaëtan, Lesca, Audrey, Putoux, Dorothée, Ville, Cyril, Mignot, Delphine, Héron, Rima, Nabbout, Giulia, Barcia, Marlène, Rio, Agathe, Roubertie, Pierre, Meyer, Véronique, Paquis-Flucklinger, Olivier, Patat, Jérémie, Lefranc, Marion, Gerard, Julietta, de Bellescize, Laurent, Villard, Anne, De Saint Martin, Mathieu, Milh

    المصدر: EpilepsiaREFERENCES. 63(10)

    مصطلحات موضوعية: Cohort Studies, Epilepsy, Phenotype, Mutation, Humans, Epilepsy, Generalized, Receptors, GABA-A, Genetic Association Studies, gamma-Aminobutyric Acid

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::06cb7b9d7c7192c6750e67d326e49040
    https://pubmed.ncbi.nlm.nih.gov/35718920

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  9. 9
    The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

    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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb65b8e29c1ee91950f6590e304a9c47
    https://hal-amu.archives-ouvertes.fr/hal-03949438/document

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  10. 10
    The phenotypic spectrum of X‐linked, infantile onset ALG13 ‐related developmental and epileptic encephalopathy

    المؤلفون: Nadia Bahi-Buisson, Christian Korff, Koen L.I. van Gassen, Nathalie Villeneuve, Heather C Mefford, Ronit M. Pressler, Anna Kaminska, Amélie Piton, Nienke E. Verbeek, Ingrid E. Scheffer, Lynette G. Sadleir, Alexandre N. Datta, Fiona Gardiner, Anne Lépine, J. Helen Cross, Matthieu Milh, Susanne Ruf, Gaetan Lesca, Bénédicte Héron, Sarah E. Buerki, Cyrill Mignot, Thierry Bienvenu, Anne de Saint Martin, Pia Zacher, Amy McTague, Johannes R. Lemke, Dorothée Ville

    المصدر: Epilepsia

    مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Glycosylation, epileptic spasms, Choreoathetosis, N-Acetylglucosaminyltransferases, ALG13, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Humans, Medicine, Missense mutation, developmental and epileptic encephalopathy, Dystonia, business.industry, West Syndrome, West syndrome, medicine.disease, Hypsarrhythmia, Epileptic spasms, 030104 developmental biology, Neurology, Full‐length Original Research, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4184951f9111f34b924a4ce083259c
    https://doi.org/10.1111/epi.16761

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