المؤلفون: Kaiyrzhanov, Rauan, Thompson, Kyle, Efthymiou, Stephanie, Mukushev, Askhat, Zharylkassyn, Akbota, Prasad, Chitra, Ghayoor Karimiani, Ehsan, Alvi, Javeria Raza, Niyazov, Dmitriy, Alahmad, Ahmad, Babaei, Meisam, Tajsharghi, Homa, Albash, Buthaina, Alaqeel, Ahmad, Charif, Majida, Hashemi, Narges, Heidari, Morteza, Kalantar, Seyed Mehdi, Lenaers, Guy, Mehrjardi, Mohammad Yahya Vahidi, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Mirabutalebi, Seyed Hamidreza, Carere, Deanna Alexis, Movahedinia, Mojtaba, Murphy, David, McFarland, Robert, Abdel-Hamid, Mohamed S., Elhossini, Rasha M., Alavi, Shahryar, Napier, Melanie, Belanger-Quintana, Amaya, Prasad, Asuri N., Jakobczyk, Jessica, Roubertie, Agathe, Rupar, Tony, Sultan, Tipu, Toosi, Mehran Beiraghi, Sazanov, Leonid, Severino, Mariasavina, Houlden, Henry, Taylor, Robert W., Maroofian, Reza

المصدر: Brain Communications. 7(1)

مصطلحات موضوعية: Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-24791
https://doi.org/10.1093/braincomms/fcae453
https://his.diva-portal.org/smash/get/diva2:1922161/FULLTEXT01.pdf

المؤلفون: Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou

المصدر: Heliyon, Vol 11, Iss 3, Pp e42086- (2025)

مصطلحات موضوعية: Methylmalonic aciduria and homocystinuria, Cobalamin C type, Inborn error of metabolism, Homocysteine, Methylmalonic acid, Vitamin B12, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844025004669; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/84cbbda931d348859365cddb0fa00f94

المؤلفون: Moya Quiros, Vincent, Adham, Ahmed, Convers, Philippe, Lesca, Gaetan, Mauguiere, François, Soulier, Hugo, Arzimanoglou, Alexis, Bayat, Allan, Braakman, Hilde, Camdessanche, Jean Philippe, Casenave, Philippe, Chaton, Laurence, Chaix, Yves, Chochoi, Maxime, Depienne, Christel, Desportes, Vincent, De Ridder, Jessie, Dinkelacker, Vera, Gardella, Elena, Kluger, Gerhard J., Jung, Julien, Lemesle Martin, Martine, Mancardi, Maria Margherita, Mueller, Markus, Poulat, Anne Lise, Platzer, Konrad, Roubertie, Agathe, Stokman, Marijn F., Vulto-van Silfhout, Anneke T., Wiegand, Gert, Mazzola, Laure

المصدر: Moya Quiros , V , Adham , A , Convers , P , Lesca , G , Mauguiere , F , Soulier , H , Arzimanoglou , A , Bayat , A , Braakman , H , Camdessanche , J P , Casenave , P , Chaton , L , Chaix , Y , Chochoi , M , Depienne , C , Desportes , V , De Ridder , J , Dinkelacker , V , Gardella , E , Kluger , G J , Jung , J , Lemesle Martin , M , Mancardi , M M , Mueller ....

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/electroclinical-features-and-functional-connectivity-analysis-in-syn1related-epilepsy(d666ad9d-be6e-4e0f-9c97-6402b10bbe55).html
https://doi.org/10.1002/ana.27063
https://curis.ku.dk/ws/files/416567027/Annals_of_Neurology_2024_Moya_Quiros_Electro_Clinical_Features_and_Functional_Connectivity_Analysis_in_SYN1_Related.pdf

المؤلفون: Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl

المصدر: Annals of the Child Neurology Society, Vol 2, Iss 1, Pp 53-59 (2024)

مصطلحات موضوعية: AADC deficiency, gene therapy, rare disease, Neurology. Diseases of the nervous system, RC346-429, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2831-3267

URL الوصول: https://doaj.org/article/deca6b443a2e40fb99fb7e172d08a585

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

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1403815/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6

المؤلفون: Heidy Baide‐Mairena, Arthur Coget, Nicolas Leboucq, Vincent Procaccio, Maud Blanluet, Pierre Meyer, Marie‐Claire Malinge, Marie‐Céline François‐Heude, Mathis Moreno, David Geneviève, Cecilia Marelli, Agathe Roubertie

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1937-1943 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/4e20df8f96174de3b4d0e0ea2e34f8b3

المؤلفون: Mengel, Eugen, Patterson, Marc C, Da Riol, Rosalia M, Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M, Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Petersen, Nikolaj Havnsøe Torp, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, Dali, Christine

المصدر: Journal of Inherited Metabolic Disease. 44(6)

مصطلحات موضوعية: Clinical Research, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adolescent, Child, Child, Preschool, Disease Progression, Double-Blind Method, Female, Humans, Hydroxylamines, Internationality, Male, Niemann-Pick Disease, Type C, Prospective Studies, Severity of Illness Index, Treatment Outcome, Young Adult, arimoclomol, biomarker, double-blindplacebo-controlled, heat shock protein, Niemann-Pick disease type C, NPC clinical severity scale, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2zk0w272
https://escholarship.org/content/qt2zk0w272/qt2zk0w272.pdf

المؤلفون: Rice, GI, Kitabayashi, N, Barth, M, Briggs, TA, Burton, ACE, Carpanelli, ML, Cerisola, AM, Colson, C, Dale, RC, Danti, FR, Darin, N, De Azua, B, De Giorgis, V, De Goede, CGL, Desguerre, I, De Laet, C, Eslahi, A, Fahey, MC, Fallon, P, Fay, A, Fazzi, E, Gorman, MP, Gowrinathan, NR, Hully, M, Kurian, MA, Leboucq, N, Lin, JPSM, Lines, MA, Mar, SS, Maroofian, R, Marti-Sanchez, L, McCullagh, G, Mojarrad, M, Narayanan, V, Orcesi, S, Ortigoza-Escobar, JD, Perez-Duenas, B, Petit, F, Ramsey, KM, Rasmussen, M, Rivier, F, Rodriguez-Pombo, P, Roubertie, A, Stodberg, TI, Toosi, MB, Toutain, A, Uettwiller, F, Ulrick, N, Vanderver, A, Waldman, A, Livingston, JH, Crow, YJ

المصدر: Neuropediatrics. 48(3):166-184

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135949544

المؤلفون: Soliman, Lorraine Roubertie, Tripier-Mondancin, Odile, Bourg, Adrien

المساهمون: Activité, Connaissance, Transmission, éducation (ACTé), Université Clermont Auvergne 2017-2020 (UCA 2017-2020 ), Lettres, Langage et Arts – Création, Recherche, Émergence en Arts, Textes, Images, Spectacles (LLA-CREATIS), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT), Education, Formation, Travail, Savoirs (EFTS), Université de Toulouse (UT)-Université de Toulouse (UT)-École Nationale Supérieure de Formation de l'Enseignement Agricole de Toulouse-Auzeville (ENSFEA), Institut de Recherche en Musicologie (IReMus), Bibliothèque nationale de France (BnF)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Ministère de la Culture (MC), Labex SMS Structurations des Mondes Sociaux

المصدر: ISSN: 1634-0825.

مصطلحات موضوعية: data paper, writing, methodology, MusiPim project, Musique et Partenariat Inter-Métiers, rédaction, méthodologie, projet MusiPim, Pratiques instrumentales collectives, Collective instrumental practice, [SHS]Humanities and Social Sciences, [SHS.EDU]Humanities and Social Sciences/Education, [SHS.MUSIQ]Humanities and Social Sciences/Musicology and performing arts

الاتاحة: https://hal.science/hal-04872786

المؤلفون: Padovani, Paul, Jalal, Zakaria, Fouilloux, Virginie, Benbrik, Nadir, Grunenwald, Céline, Thambo, Jean-Benoit, Aldebert, Philippe, Tagorti, Maha, Roubertie, François, Baron, Olivier, Ovaert, Caroline, Ly, Mohamedou, Baruteau, Alban-Elouen

المساهمون: Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre d’Investigation Clinique de Nantes (CIC Nantes), Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Centre de recherche Cardio-Thoracique de Bordeaux Bordeaux (CRCTB), Université Bordeaux Segalen - Bordeaux 2-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone CHU - APHM (TIMONE), 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), Physiopathologie des Adaptations Nutritionnelles (PhAN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE)

المصدر: ISSN: 2753-670X.

مصطلحات موضوعية: Melody valve, Atrioventricular valve, Infant, Hybrid intervention, Infective endocarditis, Outcomes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/38490258; PUBMED: 38490258; PUBMEDCENTRAL: PMC11181930

الاتاحة: https://nantes-universite.hal.science/hal-04820096
https://nantes-universite.hal.science/hal-04820096v1/document
https://nantes-universite.hal.science/hal-04820096v1/file/ivae046.pdf
https://doi.org/10.1093/icvts/ivae046

المؤلفون: Roze, Emmanuel, Silveira‐Moriyama, Laura, Leu‐Semenescu, Smaranda, Villeneuve, Nathalie, Lecardonnel, Bérénice, François‐Heude, Marie‐Céline, Meyer, Pierre, de Gusmao, Claudio M., Roubertie, Agathe

المصدر: Movement Disorders Clinical Practice ; ISSN 2330-1619 2330-1619

الاتاحة: https://doi.org/10.1002/mdc3.14289

المؤلفون: Colmard, Maxime, Rivier, Francois, de Barry, Gaëlle, Roubertie, Agathe, Urtiaga-Valle, Sarai, Mercedes-Alvarez, Blanca, Combes, Clementine, Cambonie, Gilles, Milesi, Christophe, Meyer, Pierre

المساهمون: 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: ISSN: 0012-1622 ; Developmental Medicine and Child Neurology ; https://hal.science/hal-04416016 ; Developmental Medicine and Child Neurology, 2024, ⟨10.1111/dmcn.15859⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04416016
https://hal.science/hal-04416016v1/document
https://hal.science/hal-04416016v1/file/2024%20Colmard%20%20et%20al.,%20Efficacy%20of%20intravenous.pdf
https://doi.org/10.1111/dmcn.15859

المؤلفون: Zakaria Jalal, Elise Langouet, Nabil Dib, Soazig Le-Quellenec, Mansour Mostefa-Kara, Amandine Martin, François Roubertie, Jean-Benoît Thambo

المصدر: Journal of Clinical Medicine, Vol 13, Iss 9, p 2601 (2024)

مصطلحات موضوعية: univentricular heart, Fontan procedure, animal model, experimental model, Medicine

Relation: https://www.mdpi.com/2077-0383/13/9/2601; https://doaj.org/toc/2077-0383; https://doaj.org/article/6a5e264d3c844fd2ad0bbea8c7b3c83c

الاتاحة: https://doi.org/10.3390/jcm13092601
https://doaj.org/article/6a5e264d3c844fd2ad0bbea8c7b3c83c

المؤلفون: Garreau, Anne, Santa, Pauline, Dubois, Maxime, Brisou, Damien, Levionnois, Émeline, Laurent, Paôline, Ferriere, Amandine, Roubertie, Anaïs, Loizon, Séverine, Duluc, Dorothée, Blanco, Patrick, Contin‐Bordes, Cécile, Truchetet, Marie‐Elise, Sisirak, Vanja

المساهمون: Fondation pour la Recherche Médicale

المصدر: European Journal of Immunology ; volume 54, issue 6 ; ISSN 0014-2980 1521-4141

الاتاحة: http://dx.doi.org/10.1002/eji.202350903
https://onlinelibrary.wiley.com/doi/pdf/10.1002/eji.202350903

المؤلفون: Crow, YJ, Chase, DS, Schmidt, JL, Szynkiewicz, M, Forte, GMA, Gornall, HL, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, MS, Abdel-Salam, GM, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, EM, Bahi-Buisson, N, Bailey, KM, Barnerias, C, Barth, M, Battini, R, Beresford, MW, Bernard, G, Bianchi, M, de Villemeur, TB, Blair, EM, Bloom, M, Burlina, AB, Carpanelli, ML, Carvalho, DR, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, KE, Chitayat, DA, Collins, AE, Corcoles, CS, Cordeiro, NJV, Crichiutti, G, Dabydeen, L, Dale, RC, D'Arrigo, S, De Goede, CGEL, De Laet, C, De Waele, LMH, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, MC, Fazzi, E, Ferrie, CD, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, NR, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, MD, Kirk, EP, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, MJ, Lin, JPSM, Linnankivi, T, Mackay, MT, Marom, DR, Lourenco, CM, McKee, SA, Moroni, I, Morton, JEV, Moutard, ML, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, PJ, Olivieri, I, Ostergaard, JR, Perez-Duenas, B, Prendiville, JS, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, KA, Sinha, GP, Soler, D, Spiegel, R, Stodberg, TI, Straussberg, R, Swoboda, KJ, Suri, M, Tacke, U, Tan, TY, Naude, JT, Teik, KW, Thomas, MM, Till, M, Tonduti, D, Valente, EM, Van Coster, RN, van der Knaap, MS, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, GB, Wassmer, E, Webb, HJ, Whitehouse, WP, Whitney, RN, Zaki, MS, Zuberi, SM, Livingston, JH, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, GI

المصدر: American journal of medical genetics. Part A. 167(167A):296-312

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130658997

المؤلفون: Danielsson, A, Carecchio, M, Cif, L, Koy, A, Lin, JP, Solders, G, Romito, L, Lohmann, K, Garavaglia, B, Reale, C, Zorzi, G, Nardocci, N, Coubes, P, Gonzalez, V, Roubertie, A, Collod-Beroud, G, Lind, G, Tedroff, K

المصدر: Journal of clinical medicine. 8(12)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142711185

المؤلفون: Hwu, Paul Wuh-Liang, Roubertie, Agathe, Chien, Yin-Hsiu, Wang, Antonia, Russell, Alexis, Lee, Ni-Chung, Pachelli, Pedro Eugenio, Federhen, Andressa, Tai, Chun-Hwei

المصدر: SBN Conference 2022 ; Arquivos de Neuro-Psiquiatria ; ISSN 1678-4227

الاتاحة: http://dx.doi.org/10.1055/s-0043-1774455
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1774455.pdf

المؤلفون: Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M., Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A., Yuskaitis, Christopher J., Salussolia, Catherine L., Ebrahimi-Fakhari, Daniel, Pearson, Toni S., Saffari, Afshin, Ziegler, Andreas, Koelker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R., Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O., Shukla, Anju, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P., Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S., Mahmoud, Adel A. H., Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C., Brock, Stefanie, Roubertie, Agathe, Darras, Basil T., Agrawal, Pankaj B., Santorelli, Filippo M., Gleeson, Joseph, Zaki, Maha S., Sheikh, Sarah, I, Bennett, James T., Sahin, Mustafa

المصدر: Brain. 143(10):2929-2944

مصطلحات موضوعية: SPG47, SPG50, SPG51, SPG52, neurodegeneration

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435414
https://doi.org/10.1093/brain/awz307

المؤلفون: Maliha Badr, Marion Goulard, Bénédicte Theret, Agathe Roubertie, Stéphanie Badiou, Roselyne Pifre, Virginie Bres, Gilles Cambonie

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Medical errors, Newborn, Lipid overdose, Exchange transfusion, Lipid emulsions, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/4dcc8859e22249e9a962f78d09cc9c3e

المؤلفون: Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, de Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothée, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, de Vivo, Darryl, C, An, Isabelle, Bailly, Laurent, Bendetowicz, David, Charles, Perrine, Delorme, Cécile, Demeret, Sophie, Giron, Camille, Heide, Solveig, Heinzmann, Anna, Lalaude, Mathilde, Méneret, Aurélie, Mezouar, Nicolas, Monin, Marie-Lorraine, Mouthon, Linda, Roze, Emmanuel, Tarrano, Clément, Villain, Nicolas, Yazbeck, Elise, Auvin, Stéphane, Da Costa, Lydie, Dozières, Blandine, Portes, Vincent Des, Gokce-Samar, Zeynep, Panagiotakaki, Eleni, Souci, Sabrine, Toulouse, Joseph, Bellesme, Céline, Maurey, Hélène, Salah, Lucie, de Villemeur, Thierry Billette, Garzon, Pauline, Héron, Bénédicte, Isapof, Arnaud, Nougues, Marie-Christine, Ravelli, Claudia, Renaldo, Florence, Rodriguez, Diana, Valence, Stéphanie, Dangles, Marie-Thérèse, de Lonlay, Pascale, Desguerre, Isabelle, Durrleman, Chloé, Hully, Marie, Albertini, Francesca, Cano, Aline, Chabrol, Brigitte, Chavany, Julie, Kaphan, Elsa, Lagarde, Stanislas, Villeneuve, Nathalie, Avez-Couturier, Justine, Chaton, Laurence, Cuvellier, Jean-Christophe, Dehak, Rabha, Ballay, Florence Flamein, Floret, Valentine, Remérand, Ganaëlle, Abi Warde, Marie-Thérèse, Anheim, Mathieu, de Feraudy, Yvan, Gebus, Odile, Perriard, Caroline, Spitz, Marie-Aude, Khalil, Mirna, Tosi, Cécilia Marelli, Alvarez, Blanca Mercedes, Meyer, Pierre, Valle, Sarai Urtiaga, Canon, Mathilde, Ioos, Christine, Espil, Caroline, Husson, Marie, Goizet, Cyril, Michaud, Vincent, Pedespan, Jean-Michel, Damaj, Léna, Hadjadj, Sarah, Lavillaureix, Alinoë, Lepage, Jean-Marie, Ugolin, Mélissa, Froget, Rachel, Laroche, Cécile, Cancès, Claude, Salel, Yu Jin, Viguier, Agnès, Mazzola, Laure, Perrin, Laurine, Besson, Gérard, Dubois, Fanny, Lametery, Elodie, Jacquet, Coralie, de Pontual, Loïc, Castelnau, Pierre, Lagrue, Emmanuelle, Gibaud, Marc, Chouchane, Mondher, Darmency, Véronique, Fatus, Clémence Fauconnier, Bilbault, Claire, Cullier, Anne Charlotte, Mekary, Jacinthe, Touhami, Jawida, Baer, Marie-Elodie, Litou, Nadine, Samaan, Simon, Béesau, Christophe, Bitaudeau, Floriane, Cousin, Christelle, Desport, Elodie, Djouadi, Lynda, Hamadi, Yasmine, Lebreton, Emeline, Moriceau, Sandra

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), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), METAFORA Biosystems, Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hôpital de Hautepierre Strasbourg, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Hôpital Raymond Poincaré (Garches) GHU AP-HP Université Paris-Saclay, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Département Neurologie CHU Toulouse, Pôle Neurosciences CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) Hôpital de la Timone - APHM, Hôpital de la Timone CHU - APHM (TIMONE), Hôpital Roger Salengro Lille, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier de la Côte Basque (CHCB), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CIC Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Saint Eloi CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL), Laboratoire CERBA Saint Ouen l'Aumône, Aghia Sofia Children's Hospital, Hospital Sant Joan de Déu Barcelona, AP-HP - Hôpital Bichat - Claude Bernard Paris, Service de neuropédiatrie et maladies métaboliques CHU Robert-Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Columbia University Irving Medical Center (CUIMC), CHU Pitié-Salpêtrière AP-HP, This study was supported by French Health Authorities, through the Forfait Innovation, and has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 806038.

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/37076312; PUBMED: 37076312; PUBMEDCENTRAL: PMC10256121

الاتاحة: https://hal.science/hal-04347222
https://hal.science/hal-04347222v1/document
https://hal.science/hal-04347222v1/file/WNL-2023-000173.pdf
https://doi.org/10.1212/WNL.0000000000207296