المؤلفون: Maha Dahawi, Jean-Madeleine de Sainte Agathe, Mohamed S. Elmagzoub, Elhami A. Ahmed, Julien Buratti, Thomas Courtin, Eric Noé, Julie Bogoin, Bruno Copin, Fatima A. Elmugadam, Wasma A. Abdelgadir, Ahmed K. M. A. Ahmed, Mohamed A. Daldoum, Rayan Mamoon Ibrahim Altayeb, Mohamed Bashir, Leena Mohamed Khalid, Sahar Gamil, Sara Baldassari, Liena Elsayed, Boris Keren, Gregory Nuel, Ammar E. Ahmed, Eric Leguern

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: GGE, JME, FAT1, DCHS1, ASTN2, Oligogenic, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/da14490885db477eb26406082e9daf33

المؤلفون: Jean-Madeleine De Sainte Agathe, Eric Leguern

المصدر: EBioMedicine, Vol 111, Iss , Pp 105505- (2025)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396424005413; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/8050eb3709af4ed995e0ecf9a0bf6e6c

المؤلفون: Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Aurélien Perrin, Mathieu Cerino, Annamaria Molon, Anne-Sophie Lia, Corinne Magdelaine, Bruno Francou, Anne Guiochon-Mantel, Marie-Claire Malinge, Eric Leguern, Nicolas Lévy, Shahram Attarian, Philippe Latour, Nathalie Bonello-Palot

المصدر: Genes; Volume 13; Issue 2; Pages: 318

مصطلحات موضوعية: rare diseases, public health, Charcot–Marie–Tooth disease, next generation sequencing, consensus gene list

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13020318

الاتاحة: https://doi.org/10.3390/genes13020318

المؤلفون: Maha Dahawi, Mohamed S. Elmagzoub, Elhami A. Ahmed, Sara Baldassari, Guillaume Achaz, Fatima A. Elmugadam, Wasma A. Abdelgadir, Stéphanie Baulac, Julien Buratti, Omer Abdalla, Sahar Gamil, Maha Alzubeir, Rayan Abubaker, Eric Noé, Liena Elsayed, Ammar E. Ahmed, Eric Leguern

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: ADGRV1, genetic generalized epilepsy, absence epilepsy, susceptibility gene, oligogenism, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.738272/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/e1b1b3448a6c4c71a7e28ea5bf7e22cf

المؤلفون: Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e

المؤلفون: Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/752a22f841ae41c284ab977e7ffdeead

المؤلفون: Elise Marsan, Saeko Ishida, Adrien Schramm, Sarah Weckhuysen, Giuseppe Muraca, Sarah Lecas, Ning Liang, Caroline Treins, Mario Pende, Delphine Roussel, Michel Le Van Quyen, Tomoji Mashimo, Takehito Kaneko, Takashi Yamamoto, Tetsushi Sakuma, Séverine Mahon, Richard Miles, Eric Leguern, Stéphane Charpier, Stéphanie Baulac

المصدر: Neurobiology of Disease, Vol 89, Iss , Pp 180-189 (2016)

مصطلحات موضوعية: DEPDC5, Familial focal epilepsy, Focal cortical dysplasia, mTOR, Rapamycin, Knockout, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996116300316; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/848e02bb7fa74f6fb765b3d6bcd24fad

المؤلفون: Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa B. Lomax, Courtney Kiss, Fabrice Bartolomei, Anne F. Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

مصطلحات موضوعية: DEPDC5, mTORC1 pathway, Genetic focal epilepsy, Focal cortical dysplasia, SUDEP

Relation: 10779/aru.23779713.v1; https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713

الاتاحة: https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713

المؤلفون: Amina Nasri, Amina Gargouri, Eric LeGuern, Mouna Ben Djebara, Riadh Gouider, Imen Kacem, Sabrina Zidi, Saloua Mrabet

المصدر: Epileptic Disorders. 24:163-170

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, Cerebellar ataxia, business.industry, Context (language use), General Medicine, Progressive myoclonus epilepsy, medicine.disease, Unverricht–Lundborg disease, Neurology, mental disorders, medicine, Neurology (clinical), medicine.symptom, Family history, Differential diagnosis, business, Myoclonus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2425d4355604236b91781968137c993b
https://doi.org/10.1684/epd.2021.1372

المؤلفون: Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille

مصطلحات موضوعية: Genetics, Developmental defects, epilepsy, human genetics, sequence analysis, DNA, Genetics (clinical), ddc

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd60c35e549ae106d81306fe5c6d999
https://mediatum.ub.tum.de/doc/1707433/document.pdf

المؤلفون: Julien Buratti, Isabelle Gourfinkel-An, Oriane Trouillard, Raffaella Moretti, Cyril Mignot, Delphine Bouteiller, Vincent des Portes, Patricia Moreau, Christel Depienne, Boris Keren, Agnès Rastetter, Lionel Arnaud, Joseph Toulouse, Caroline Nava, Eric LeGuern

المصدر: European Journal of Paediatric Neurology. 33:121-124

مصطلحات موضوعية: Medizin, Epilepsies, Myoclonic, Biology, Asymptomatic, Seizures, Febrile, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Dravet syndrome, 030225 pediatrics, medicine, Humans, Missense mutation, Allele, Gene, Genetics, Seizure threshold, General Medicine, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Mutation, Pediatrics, Perinatology and Child Health, Epilepsy syndromes, Neurology (clinical), medicine.symptom, Epileptic Syndromes, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562e9940ba0191cdc1dcfcef5165f927
https://doi.org/10.1016/j.ejpn.2021.05.018

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

المؤلفون: Mahmoud Koko, Joshua E Motelow, Kate E Stanley, Dheeraj R Bobbili, Ryan S Dhindsa, Patrick May, Brian K Alldredge, Andrew S Allen, Janine Altmüller, Dina Amrom, Eva Andermann, Pauls Auce, Andreja Avbersek, Stéphanie Baulac, Jocelyn F Bautista, Felicitas Becker, Susannah T Bellows, Bianca Berghuis, Samuel F Berkovic, Judith Bluvstein, Alex Boro, Joshua Bridgers, Rosemary Burgess, Hande Caglayan, Gregory D Cascino, Gianpiero L Cavalleri, Seo Kyung Chung, Cécile Cieuta-Walti, Véronique Cloutier, Damian Consalvo, Patrick Cossette, Patricia Crumrine, Norman Delanty, Chantal Depondt, Richard Desbiens, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Kate Everett, Miguel Fiol, Nathan B Fountain, Ben Francis, Jacqueline French, Catharine Freyer, Daniel Friedman, Antonio Gambardella, Eric B Geller, Simon Girard, Tracy Glauser, Simon Glynn, David B Goldstein, Micheline Gravel, Kevin Haas, Sheryl R Haut, Erin L Heinzen, Ingo Helbig, Michael S Hildebrand, Michael R Johnson, Andrea Jorgensen, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Karl M Klein, Robert C Knowlton, Bobby PC Koeleman, Eric H Kossoff, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Sarah R Langley, Eric LeGuern, Anna Elina Lehesjoki, Holger Lerche, Costin Leu, Anne Lortie, Daniel H Lowenstein, Anthony G Marson, Caroline Mebane, Heather C Mefford, Caroline Meloche, Claudia Moreau, Paul V Motika, Hiltrud Muhle, Rikke S Møller, Rima Nabbout, Dang K Nguyen, Marina Nikanorova, Edward J Novotny, Peter Nürnberg, Ruth Ottman, Terence J O’Brien, Juliann M Paolicchi, Jack M Parent, Kristen Park, Sarah Peter, Steven Petrou, Slavé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Lynette G Sadleir, Josemir W Sander, Thomas Sander, Ingrid E Scheffer, Julian Schubert, Renée A Shellhaas, Elliott H Sherr, Jerry J Shih, Shlomo Shinnar, Graeme J Sills, Rani K Singh, Auli Siren, Joseph Sirven, Sanjay M Sisodiya, Michael C Smith, Anja CM Sonsma, Pasquale Striano, Joseph Sullivan, Liu Lin Thio, Rhys H Thomas, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Quanli Wang, Yvonne G Weber, Sarah Weckhuysen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Stefan Wolking, Federico Zara, Fritz Zimprich

مصطلحات موضوعية: Clinical sciences not elsewhere classified, Neurosciences not elsewhere classified, familial epilepsy, GABAA receptors, GABRG2, GGE, sporadic epilepsy, 3202 Clinical sciences, 3209 Neurosciences

Relation: http://hdl.handle.net/10536/DRO/DU:30162056

الاتاحة: http://hdl.handle.net/10536/DRO/DU:30162056
https://figshare.com/articles/journal_contribution/Association_of_ultra-rare_coding_variants_with_genetic_generalized_epilepsy_A_case_control_whole_exome_sequencing_study/20624091

المؤلفون: Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg, Bernard Brugg, Jocelyn Laporte, Anne Baron-Van Evercooren, Eric LeGuern

المصدر: Neurobiology of Disease, Vol 26, Iss 2, Pp 323-331 (2007)

مصطلحات موضوعية: MTMR2, Charcot–Marie–Tooth, RNAi, Schwann, Proliferation, Apoptosis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996106003299; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/4d36a824fe524064bd550190137f1433

المؤلفون: Batsal Devkota, José M. Serratosa, Joel N. Hirschhorn, Renzo Guerrini, Patrick May, Johanna A. Jähn, Paul Avillach, Yvonne G. Weber, Sha Tang, Kaja Kristine Selmer, Joseph J. Shen, Annika Rademacher, Joseph Peeden, Ulrich Stephani, Judson Kilbourn, Niklas Schwarz, Deb K. Pal, Lacey Smith, Trine Bjørg Hammer, Carla Marini, Deanne Taylor, Ingo Helbig, Rudi Balling, Arvid Suls, Holger Lerche, Karl Martin Klein, Simone Seiffert, Annapurna Poduri, Bobby P. C. Koeleman, Tania López-Hernández, Deepali N. Shinde, Stéphanie Baulac, Sawona Biswas, Eric LeGuern, Peter D. Galer, Volker Haucke, Katherine L. Helbig, Ian D. Krantz, Aarno Palotie, Sarah Weckhuysen, Nadja Hümpfer, Tiina Talvik, Rikke S. Møller, Roland Krause, Allison Heath, Dorota Hoffman-Zacharska, Nina Barišić, Peter De Jonghe, Hiltrud Muhle, In-Hee Lee, Kenneth D. Mandl, Felix Benninger, Dana Craiu, Florence T. Bourgeois, Colin A Ellis, Sanjay M. Sisodiya, Christel Depienne, Barbara Hallinan, Eric D. Marsh, Susanne Schubert-Bast, Manuela Pendziwiat, Kristen L. Sund, Federico Zara, Tracy A. Glauser, Katalin Štěrbová, Johannes R. Lemke, Oded Shor, Anna-Elina Lehesjoki, Helle Hjalgrim, Anna Bartels, Vladimir Komarek, Peter White, Tarja Linnankivi, Hande Caglayan, Sarah von Spiczak, Shiva Ganesan, Felix Rosenow, Sek Won Kong, Pasquale Striano

المساهمون: EuroEPINOMICS-RES Consortium, GRIN Consortium, Department of Medical and Clinical Genetics, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Institute for Molecular Medicine Finland, HUS Children and Adolescents, Children's Hospital

المصدر: The American journal of human genetics
Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001

مصطلحات موضوعية: 0301 basic medicine, PROTEIN, ILAE COMMISSION, clathrin-mediated endocytosis, 3124 Neurology and psychiatry, Mice, Epilepsy, 0302 clinical medicine, BINDING, Conditional gene knockout, Missense mutation, Child, Genetics (clinical), Mice, Knockout, Genetics, Brain Diseases, neurodevelopmental disorders, Phenotype, Endocytosis, Adaptor Protein Complex mu Subunits, Child, Preschool, Female, POSITION PAPER, RECRUITMENT, Adolescent, computational phenotypes, developmental and epileptic encephalopathy, Human Phenotype Ontology, synaptic transmission, Adaptor Protein Complex 2, Mutation, Missense, Biology, CLASSIFICATION, Article, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Synaptic vesicle recycling, ADAPTER AP-2, Generalized epilepsy, 3112 Neurosciences, Infant, Receptor-mediated endocytosis, medicine.disease, Clathrin, 030104 developmental biology, DE-NOVO MUTATIONS, 3111 Biomedicine, Human medicine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41d721c4425c9ade86e75d2f4cf3565c
https://doi.org/10.1016/j.ajhg.2019.04.001

المؤلفون: Stéphanie Millecamps, Aude-Marie Grapperon, Serge Lumbroso, François Salachas, Patrick Vourc'h, Aude Chiot, Delphine Bohl, Cécile Cazeneuve, Emilien Bernard, Anne-Laure Fauret-Amsellem, Kevin Mouzat, William Camu, Maria del Mar Amador, Christian S Lobsiger, Philippe Corcia, Beata Gyorgy, Séverine Boillée, Jean-Christophe Antoine, Shahram Attarian, Elisa Teyssou, Annie Verschueren, Yannick Marie, Claire Guissart, Jean-Philippe Camdessanché, Danielle Seilhean, Eric Leguern, François Muratet, Vincent Meininger, Justine Guegan

المساهمون: 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), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centres de référence pour la sclérose latérale amyotrophique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Hôpital privé des Peupliers (Paris), Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Centre Sclérose Latérale Amyotrophique et maladies du motoneurone [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Gestionnaire, HAL Sorbonne Université 5, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Sclérose Latérale Amyotrophique et maladies du motoneurone [CHU Saint-Etienne], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)-Université Jean Monnet - Saint-Étienne (UJM)

المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (9), pp.942-949. ⟨10.1136/jnnp-2020-325921⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, 92 (9), pp.942-949. ⟨10.1136/jnnp-2020-325921⟩

مصطلحات موضوعية: MESH: Mutation, MESH: Pedigree, Genetic enhancement, animal diseases, [SDV]Life Sciences [q-bio], SOD1, Disease, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, medicine.disease_cause, MESH: Phenotype, 03 medical and health sciences, 0302 clinical medicine, MESH: Aged, 80 and over, medicine, Missense mutation, MESH: Superroxide Dismutase-1, Amyotrophic lateral sclerosis, Gene, MESH: Amyotrophic Lateral Sclerosis, 030304 developmental biology, Genetics, MESH: Aged, MESH: Genetic Therapy, 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Middle Aged, MESH: Genetic Testing, nutritional and metabolic diseases, MESH: Adult, medicine.disease, Phenotype, MESH: Male, 3. Good health, nervous system diseases, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, nervous system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Surgery, Neurology (clinical), MESH: Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1bcdd954cf21224229083c5d45451d
https://hal.sorbonne-universite.fr/hal-03353407

المؤلفون: Maha, Dahawi, Mohamed S, Elmagzoub, Elhami, A Ahmed, Sara, Baldassari, Guillaume, Achaz, Fatima A, Elmugadam, Wasma A, Abdelgadir, Stéphanie, Baulac, Julien, Buratti, Omer, Abdalla, Sahar, Gamil, Maha, Alzubeir, Rayan, Abubaker, Eric, Noé, Liena, Elsayed, Ammar E, Ahmed, Eric, Leguern

المصدر: Frontiers in Neurology

مصطلحات موضوعية: ADGRV1, genetic generalized epilepsy, oligogenism, absence epilepsy, Neurology, susceptibility gene, Original Research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::107f81666d8aa7ded57d342bd7d7c85b
https://pubmed.ncbi.nlm.nih.gov/34744978

المؤلفون: William Camu, Guillaume Banneau, Samia Ait Said, Eric LeGuern, Christel Depienne, Bophara Kol, Caroline Rooryck, Clarisse Scherer-Gagou, Giovanni Stevanin, Laurène Tissier, Perrine Pennamen, Bénédicte Héron, Cyril Goizet, Marine Guillaud-Bataille, Chloé Angelini

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe hospitalier Pellegrin, Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Unité Fonctionnelle de Génétique Clinique [CHU Pitié Salpétrière], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Duisbourg-Essen, Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Institut Fédératif de Biologie (IFB) - Hôpital Purpan

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (7), pp.1158-1163. ⟨10.1038/s41431-021-00847-4⟩
Eur J Hum Genet

مصطلحات موضوعية: Male, MESH: Alleles, Child, Comparative Genomic Hybridization, Female, France, Gene Frequency, Heterozygote, High-Throughput Nucleotide Sequencing, Spastin, Medizin, Brief Communication, Spastic Paraplegias, 03 medical and health sciences, Genetic etiology, Genetics, Spastic, Medicine, Humans, Diagnostic laboratory, Genetics (clinical), Alleles, 0303 health sciences, business.industry, Mosaicism, Spastic Paraplegia, Hereditary, 030305 genetics & heredity, Homozygote, Middle Aged, Penetrance, 3. Good health, Pedigree, nervous system diseases, Phenotype, Somatic mosaicism, Mutation, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bbe3ec088b550d1f7d5f66c189a2649
https://hal.archives-ouvertes.fr/hal-03403700

المؤلفون: Sandra Whalen, Olivier Patat, Diane Doummar, Giulia Barcia, Boris Keren, Caroline Karsenty, Sandra Kenis, Julien Buratti, Mathilde Nizon, Lionel Arnaud, Stéphanie Valence, Caroline Nava, Marion Aubert Mucca, Gaetan Lesca, Eric LeGuern, Amélie Piton, Sarah Weckhuysen, Laurent Villard, Benjamin Cogné, Cyril Mignot

المساهمون: 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 Paris Cité (UPCité), 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), 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)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal of Medical Genetics, 2021, pp.jmedgenet-2020-107511. ⟨10.1136/jmedgenet-2020-107511⟩
Journal of medical genetics

مصطلحات موضوعية: Hypertrichosis, 0303 health sciences, medicine.medical_specialty, Mutation, business.industry, [SDV]Life Sciences [q-bio], 030305 genetics & heredity, Aplasia, medicine.disease, medicine.disease_cause, Dermatology, Phenotype, 03 medical and health sciences, Epilepsy, Intellectual disability, Genetics, medicine, Missense mutation, Human medicine, business, Genetics (clinical), 030304 developmental biology, Temple Baraitser syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617303cc45bea85a493e8de5a7f24319
https://hal-univ-paris.archives-ouvertes.fr/hal-03244899

المؤلفون: Lorita La Selva, Delphine Héron, Diana Rodriguez, Marilyn Tallot, Bénédicte Gérard, Charlotte Poe, David Cheillan, Anne Pervillé, Solveig Heide, Damien Haye, Christel Thauvin-Robinet, Yline Capri, Laurence Faivre, Julien Buratti, Marie-Line Jacquemont, Lionel Arnaud, Michel Renouil, Caroline Nava, Renzo Guerrini, Eric LeGuern, Boris Keren, Françoise Darcel, Amélie Piton, Cyril Mignot, Marc Bintner, Yannis Duffourd, Julien Thevenon, Laurence Perrin, Sandrine Passemard, Annalisa Vetro, Domitille Gras, J. Miquel, Charles E. Schwartz

المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Biochimie et Biologie Moléculaire Grand Est [HCL, Lyon] (Centre de Biologie et de Pathologie), Hospices Civils de Lyon (HCL), The Greenwood Genetic Center, CHU Trousseau [APHP], Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Robert Debré, Les Hôpitaux Universitaires de Strasbourg (HUS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hopital d'enfants, 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), 'San Paolo' Hospital, Università degli Studi di Firenze = University of Florence (UniFI), CarMeN, laboratoire

المصدر: Genetics in Medicine
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩

مصطلحات موضوعية: medicine.medical_specialty, Epilepsy, business.industry, [SDV]Life Sciences [q-bio], Homozygote, Intellectual disability, Sialyltransferases, GM3 synthase deficiency, [SDV] Life Sciences [q-bio], Endocrinology, Internal medicine, medicine, Humans, business, Genetics (clinical), GM3 SYNTHASE DEFICIENCY, Movement disorder

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e1eff8efb6f27863f422fb212a6aa7
https://pubmed.ncbi.nlm.nih.gov/34906476