{"id":51,"date":"2025-03-05T09:16:02","date_gmt":"2025-03-05T08:16:02","guid":{"rendered":"https:\/\/strateg-it.fr\/?p=51"},"modified":"2025-03-05T09:16:02","modified_gmt":"2025-03-05T08:16:02","slug":"publications-i-motion-pediatrique","status":"publish","type":"post","link":"https:\/\/strateg-it.fr\/index.php\/2025\/03\/05\/publications-i-motion-pediatrique\/","title":{"rendered":"Publications I-Motion p\u00e9diatrique"},"content":{"rendered":"\n<h1 class=\"wp-block-heading\">Nos principales publications<\/h1>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39332946\/\" target=\"_blank\" rel=\"noreferrer noopener\">Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology.<\/a>\u00a0Fontaine Carbonnel S, Dabaj I, de Montferrand C, Rippert P, Laugel V, De Lucia S, Ravelli C, Seferian A, Ropars J, Cances C.Arch Pediatr. 2024 Oct;31(7):410-418. doi: 10.1016\/j.arcped.2024.05.003. Epub 2024 Sep 27. PMID: 39332946<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37935568\/\" target=\"_blank\" rel=\"noreferrer noopener\">Titin copy number variations associated with dominant inherited phenotypes.<\/a>\u00a0Perrin A, M\u00e9tay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Sol\u00e9 G, P\u00e9r\u00e9on Y, Bertini ES, Fattori F, D\u2019Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Mar\u00e9chal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Coss\u00e9e M. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136\/jmg-2023-109473. PMID: 37935568<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38086156\/\" target=\"_blank\" rel=\"noreferrer noopener\">Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.<\/a>\u00a0Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, M\u00fcller-Felber W, B\u00f6nnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016\/j.ebiom.2023.104894. Epub 2023 Dec 12. PMID: 38086156<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38124360\/\">Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.<\/a>\u00a0Brande LV, Bauch\u00e9 S, P\u00e9rez-Gu\u00e0rdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, B\u00f6hm J. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111\/nan.12952. Online ahead of print. PMID: 38124360<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37977713\/\" target=\"_blank\" rel=\"noreferrer noopener\">Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.<\/a>\u00a0Shieh PB, Kuntz NL, Dowling JJ, M\u00fcller-Felber W, B\u00f6nnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016\/S1474-4422(23)00313-7. PMID: 37977713\u00a0\u00a0<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37207382\/\" target=\"_blank\" rel=\"noreferrer noopener\">Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping.<\/a>\u00a0Mercuri E, Seferian AM, Servais L, Deconinck N, Stevenson H, Ni X, Zhang W, East L, Yonren S, Muntoni F; 4658-102 Study Group. Neuromuscul Disord. 2023 Jun;33(6):476-483. doi: 10.1016\/j.nmd.2023.03.008. Epub 2023 Mar 24. PMID: 37207382\u00a0\u00a0<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36453228\/\" target=\"_blank\" rel=\"noreferrer noopener\">T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy.<\/a>\u00a0Anthony K, Ala P, Catapano F, Meng J, Domingos J, Perry M, Ricotti V, Maresh K, Phillips LC, Servais L, Seferian AM, De Lucia S, de Groot I, Krom YD, Verschuuren JGM, Niks EH, Straub V, Guglieri M, Voit T, Morgan J, Muntoni F. Hum Gene Ther. 2023 May;34(9-10):439-448. doi: 10.1089\/hum.2022.166. Epub 2023 Feb 24. PMID: 36453228\u00a0<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36418612\/\" target=\"_blank\" rel=\"noreferrer noopener\">Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.<\/a>\u00a0Le Goff L, Seferian A, Phelep A, Rippert P, Mathieu ML, Cances C, de Lattre C, Durigneux J, Gousse G, Vincent-Genod D, Ribault S, G\u00f3mez Garc\u00eda de la Banda M, Quijano-Roy S, Sarret C, Servais L, Vuillerot C. Neurol Sci. 2023 Mar;44(3):1139. doi: 10.1007\/s10072-022-06522-w. PMID: 36418612\u00a0\u00a0<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36175810\/\" target=\"_blank\" rel=\"noreferrer noopener\">Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.<\/a>\u00a0Le Goff L, Seferian A, Phelep A, Rippert P, Mathieu ML, Cances C, de Lattre C, Durigneux J, Gousse G, Vincent-Genod D, Ribault S, Gomez Garcia de la Banda M, Quijano-Roy S, Sarret C, Servais L, Vuillerot C. Neurol Sci. 2023 Jan;44(1):329-337. doi: 10.1007\/s10072-022-06403-2. Epub 2022 Sep 29. PMID: 36175810\u00a0<\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35673937\/\" target=\"_blank\" rel=\"noreferrer noopener\">Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.<\/a>\u00a0Dangouloff T, Hiligsmann M, Deconinck N, D\u2019Amico A, Seferian AM, Boemer F, Servais L. Dev Med Child Neurol. 2023 Jan;65(1):67-77. doi: 10.1111\/dmcn.15286. Epub 2022 Jun 8. PMID: 35673937<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Nos principales publications<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"ocean_post_layout":"","ocean_both_sidebars_style":"","ocean_both_sidebars_content_width":0,"ocean_both_sidebars_sidebars_width":0,"ocean_sidebar":"","ocean_second_sidebar":"","ocean_disable_margins":"enable","ocean_add_body_class":"","ocean_shortcode_before_top_bar":"","ocean_shortcode_after_top_bar":"","ocean_shortcode_before_header":"","ocean_shortcode_after_header":"","ocean_has_shortcode":"","ocean_shortcode_after_title":"","ocean_shortcode_before_footer_widgets":"","ocean_shortcode_after_footer_widgets":"","ocean_shortcode_before_footer_bottom":"","ocean_shortcode_after_footer_bottom":"","ocean_display_top_bar":"default","ocean_display_header":"default","ocean_header_style":"","ocean_center_header_left_menu":"","ocean_custom_header_template":"","ocean_custom_logo":0,"ocean_custom_retina_logo":0,"ocean_custom_logo_max_width":0,"ocean_custom_logo_tablet_max_width":0,"ocean_custom_logo_mobile_max_width":0,"ocean_custom_logo_max_height":0,"ocean_custom_logo_tablet_max_height":0,"ocean_custom_logo_mobile_max_height":0,"ocean_header_custom_menu":"","ocean_menu_typo_font_family":"","ocean_menu_typo_font_subset":"","ocean_menu_typo_font_size":0,"ocean_menu_typo_font_size_tablet":0,"ocean_menu_typo_font_size_mobile":0,"ocean_menu_typo_font_size_unit":"px","ocean_menu_typo_font_weight":"","ocean_menu_typo_font_weight_tablet":"","ocean_menu_typo_font_weight_mobile":"","ocean_menu_typo_transform":"","ocean_menu_typo_transform_tablet":"","ocean_menu_typo_transform_mobile":"","ocean_menu_typo_line_height":0,"ocean_menu_typo_line_height_tablet":0,"ocean_menu_typo_line_height_mobile":0,"ocean_menu_typo_line_height_unit":"","ocean_menu_typo_spacing":0,"ocean_menu_typo_spacing_tablet":0,"ocean_menu_typo_spacing_mobile":0,"ocean_menu_typo_spacing_unit":"","ocean_menu_link_color":"","ocean_menu_link_color_hover":"","ocean_menu_link_color_active":"","ocean_menu_link_background":"","ocean_menu_link_hover_background":"","ocean_menu_link_active_background":"","ocean_menu_social_links_bg":"","ocean_menu_social_hover_links_bg":"","ocean_menu_social_links_color":"","ocean_menu_social_hover_links_color":"","ocean_disable_title":"default","ocean_disable_heading":"default","ocean_post_title":"","ocean_post_subheading":"","ocean_post_title_style":"","ocean_post_title_background_color":"","ocean_post_title_background":0,"ocean_post_title_bg_image_position":"","ocean_post_title_bg_image_attachment":"","ocean_post_title_bg_image_repeat":"","ocean_post_title_bg_image_size":"","ocean_post_title_height":0,"ocean_post_title_bg_overlay":0.5,"ocean_post_title_bg_overlay_color":"","ocean_disable_breadcrumbs":"default","ocean_breadcrumbs_color":"","ocean_breadcrumbs_separator_color":"","ocean_breadcrumbs_links_color":"","ocean_breadcrumbs_links_hover_color":"","ocean_display_footer_widgets":"default","ocean_display_footer_bottom":"default","ocean_custom_footer_template":"","ocean_post_oembed":"","ocean_post_self_hosted_media":"","ocean_post_video_embed":"","ocean_link_format":"","ocean_link_format_target":"self","ocean_quote_format":"","ocean_quote_format_link":"post","ocean_gallery_link_images":"on","ocean_gallery_id":[],"footnotes":""},"categories":[1],"tags":[],"class_list":["post-51","post","type-post","status-publish","format-standard","hentry","category-non-classe","entry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - 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