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

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1403815/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/b868ccdbbf144a0ebf6daa05480378e6Test

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

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/4e20df8f96174de3b4d0e0ea2e34f8b3Test

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-04416016Test ; Developmental Medicine and Child Neurology, 2024, ⟨10.1111/dmcn.15859⟩.

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

العلاقة: hal-04416016; https://hal.science/hal-04416016Test; https://hal.science/hal-04416016/documentTest; https://hal.science/hal-04416016/file/2024%20Colmard%20%20et%20al.,%20Efficacy%20of%20intravenous.pdfTest

الإتاحة: https://doi.org/10.1111/dmcn.15859Test
https://hal.science/hal-04416016Test
https://hal.science/hal-04416016/documentTest
https://hal.science/hal-04416016/file/2024%20Colmard%20%20et%20al.,%20Efficacy%20of%20intravenous.pdfTest

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 ; ISSN 0014-2980 1521-4141

الإتاحة: https://doi.org/10.1002/eji.202350903Test

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

المساهمون: PTC Therapeutics

المصدر: Annals of the Child Neurology Society ; volume 2, issue 1, page 53-59 ; ISSN 2831-3267 2831-3267

الإتاحة: https://doi.org/10.1002/cns3.20052Test

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: National Research Agency

المصدر: Interdisciplinary CardioVascular and Thoracic Surgery ; volume 38, issue 4 ; ISSN 2753-670X

الإتاحة: https://doi.org/10.1093/icvts/ivae046Test
https://academic.oup.com/icvts/article-pdf/38/4/ivae046/57287379/ivae046.pdfTest

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

الوصول الحر: https://escholarship.org/uc/item/2zk0w272Test

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

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

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

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/13/9/2601Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/6a5e264d3c844fd2ad0bbea8c7b3c83cTest

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

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