المؤلفون: Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: SYN1, synapsins, reflex epilepsy, genotype-phenotype correlation, neurodevelopmental disorders, autism spectrum disorders, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1019715/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0

المؤلفون: Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Fatty liver disease, Lysosomal storage disease, Myopathic phenotype, Health-related quality of life, Rapidly progressive lysosomal acid lipase deficiency, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a789869fae7343719234174d01ea84b9

المؤلفون: Claire, Bansept, Pauline, Gaignard, Elise, Lebigot, Didier, Eyer, Geoffroy, Delplancq, Célia, Hoebeke, Karin, Mazodier, Anaïs, Ledoyen, Cécile, Rouzier, Konstantina, Fragaki, Samira, Ait-El-Mkadem Saadi, Christophe, Philippe, Ange-Line, Bruel, Laurence, Faivre, François, Feillet, Marie-Thérèse, Abi Warde

المصدر: Mitochondrion. 68:138-144

مصطلحات موضوعية: Molecular Medicine, Cell Biology, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c8c76166557f895cd7a90d29e1bff8f
https://doi.org/10.1016/j.mito.2022.12.001

المؤلفون: Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet

المصدر: Clinical Genetics. 103:346-351

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0044e3668fcae4379601c48d21949e3
https://doi.org/10.1111/cge.14264

المؤلفون: Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie‐Thérèse Abi Warde, Elise Schaefer, Volker M.Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech

المصدر: Ann. Neurol. 93, 330-335 (2023)

مصطلحات موضوعية: Neurology, Neurology (clinical), Brief Communication, ddc

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::982ad3468f1b09faa273d9de0f5cf601
https://doi.org/10.1002/ana.26544

المؤلفون: Marie‐Laure Girardin, Thomas Flamand, Ombeline Roignot, Marie‐Thérèse Abi Warde, Véronique Mutschler, Paul Voulleminot, Max Guillot, Vera Dinkelacker, Anne De Saint‐Martin

المصدر: Epilepsia.

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d7220757a5c8bfdc9d247b457c1f965
https://doi.org/10.1111/epi.17591

المؤلفون: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Growth and Development, Pediatrics, Centre for Medical Genetics, Brussels Heritage Lab, Medical Genetics

المصدر: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE

مصطلحات موضوعية: Male, DISRUPTION, Chloride Channels/genetics, EXCHANGER, Mutation, Missense, LYSOSOMAL STORAGE DISEASE, VARIANTS, Neurodevelopmental Disorders/genetics, PHENOTYPE, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Genes, X-Linked, CLC CHLORIDE, Medicine and Health Sciences, Humans, Molecular Biology, MUTATION, Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHANNELS, LINKED MENTAL-RETARDATION, ASSOCIATION, GENE, Psychiatry and Mental health, Chemistry, Female, Human medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784

المؤلفون: Marie-Laure Girardin, Thomas Flamand, Ombeline Roignot, Marie-Thérèse Abi Warde, Véronique Mutschler, Paul Voulleminot, Max Guillot, Vera Dinkelacker, Anne de Saint Martin

المصدر: Clinical Neurophysiology. 150:e141

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::56bf7c507dfd9ad068c983e3332d5f79
https://doi.org/10.1016/j.clinph.2023.03.208

المؤلفون: Marie‐Céline François‐Heude, Elise Lebigot, Emmanuel Roze, Marie Thérèse Abi Warde, Claude Cances, Lena Damaj, Caroline Espil, Joel Fluss, Pascale de Lonlay, Ilse Kern, Guy Lenaers, Arnold Munnich, Pierre Meyer, Marie‐Aude Spitz, Stéphanie Torre, Diane Doummar, Guy Touati, Nicolas Leboucq, Agathe Roubertie

المساهمون: CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Bicêtre, 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), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Strasbourg, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Sud [CHU Rennes], CHU Pontchaillou [Rennes], CHU Bordeaux [Bordeaux], Hôpitaux Universitaires de Genève (HUG), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), 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), Hôpital Cochin [AP-HP], Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), CHU Trousseau [APHP], Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), MORNET, Dominique

المصدر: European Journal of Neurology
European Journal of Neurology, 2022, 29 (11), pp.3229-3242. ⟨10.1111/ene.15515⟩

مصطلحات موضوعية: Movement Disorders, ECHS1, [SDV]Life Sciences [q-bio], Valine, [SDV] Life Sciences [q-bio], Dystonia, Neurology, Chorea, Dystonic Disorders, Humans, Abnormalities, Multiple, Coenzyme A, Neurology (clinical), Thiolester Hydrolases, HIBCH, Leigh Disease, inherited metabolic disease, Amino Acid Metabolism, Inborn Errors, Enoyl-CoA Hydratase

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730db116c938a17a8e9f30594c868b00
https://pubmed.ncbi.nlm.nih.gov/36200804

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