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Page 1
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B. Frémond ML, et al. Among authors: boddaert n. J Clin Immunol. 2023 Aug;43(6):1436-1447. doi: 10.1007/s10875-023-01500-z. Epub 2023 May 12. J Clin Immunol. 2023. PMID: 37171742 Free PMC article.
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Gardin A, et al. Among authors: boddaert n. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. Bone Marrow Transplant. 2023. PMID: 36494569 Free PMC article.
Spectrum of neuroradiological manifestations in primary hemophagocytic lymphohistiocytosis: a comparative study of EBV-induced versus non-EBV-induced forms in 75 genetically confirmed pediatric cases.
Charpentier H, Roux CJ, Leroux P, Briand C, Levy R, Dangouloff-Ros V, Desguerre I, Neven B, Moshous D, Boddaert N. Charpentier H, et al. Among authors: boddaert n. Eur Radiol. 2023 Oct;33(10):7149-7159. doi: 10.1007/s00330-023-09649-2. Epub 2023 May 12. Eur Radiol. 2023. PMID: 37171488
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.
Dupuy G, Roux CJ, Barrois R, Imbard A, Pontoizeau C, Dangles MT, Aubart M, Arnoux JB, Margoses D, Brassier A, Marbach C, Bérat CM, Sarda E, Gitiaux C, de Lonlay P, Boddaert N, Schiff M, Desguerre I. Dupuy G, et al. Among authors: boddaert n. Eur J Paediatr Neurol. 2024 Feb 26;50:6-15. doi: 10.1016/j.ejpn.2024.02.013. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38520815
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R, Altin N, Siquier-Pernet K, Salignac S, Blanc P, Munnich A, Bole-Feysot C, Malan V, Caron B, Nitschké P, Desguerre I, Boddaert N, Rio M, Rausell A, Cantagrel V. Nicolle R, et al. Among authors: boddaert n. BMC Med Genomics. 2023 Jun 21;16(1):143. doi: 10.1186/s12920-023-01582-z. BMC Med Genomics. 2023. PMID: 37344844 Free PMC article.
Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.
Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M, Six E. Sobrino S, et al. Among authors: boddaert n. Cell Rep Med. 2023 Feb 21;4(2):100919. doi: 10.1016/j.xcrm.2023.100919. Epub 2023 Jan 26. Cell Rep Med. 2023. PMID: 36706754 Free PMC article. Clinical Trial.
GH and Childhood-onset Craniopharyngioma: When to Initiate GH Replacement Therapy?
Nguyen Quoc A, Beccaria K, González Briceño L, Pinto G, Samara-Boustani D, Stoupa A, Beltrand J, Besançon A, Thalassinos C, Puget S, Blauwblomme T, Alapetite C, Bolle S, Doz F, Grill J, Dufour C, Bourdeaut F, Abbou S, Guerrini-Rousseau L, Leruste A, Brabant S, Cavadias I, Viaud M, Boddaert N, Polak M, Kariyawasam D. Nguyen Quoc A, et al. Among authors: boddaert n. J Clin Endocrinol Metab. 2023 Jul 14;108(8):1929-1936. doi: 10.1210/clinem/dgad079. J Clin Endocrinol Metab. 2023. PMID: 36794424
478 results