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Page 1
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: michaud v. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Preclinical lentiviral hematopoietic stem cell gene therapy corrects Pompe disease-related muscle and neurological manifestations.
Yoon JK, Schindler JW, Loperfido M, Baricordi C, DeAndrade MP, Jacobs ME, Treleaven C, Plasschaert RN, Yan A, Barese CN, Dogan Y, Chen VP, Fiorini C, Hull F, Barbarossa L, Unnisa Z, Ivanov D, Kutner RH, Guda S, Oborski C, Maiwald T, Michaud V, Rothe M, Schambach A, Pfeifer R, Mason C, Biasco L, van Til NP. Yoon JK, et al. Among authors: michaud v. Mol Ther. 2024 Sep 17:S1525-0016(24)00606-3. doi: 10.1016/j.ymthe.2024.09.024. Online ahead of print. Mol Ther. 2024. PMID: 39295144
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
Diallo M, Courdier C, Mercier E, Sequeira A, Defay-Stinat A, Plaisant C, Mesdaghi S, Rigden D, Javerzat S, Lasseaux E, Bourgeade L, Audebert-Bellanger S, Dollfus H, Hadj-Rabia S, Morice-Picard F, Philibert M, Sidibé MK, Smirnov V, Sylla O, Michaud V, Arveiler B. Diallo M, et al. Among authors: michaud v. Int J Mol Sci. 2024 Aug 8;25(16):8657. doi: 10.3390/ijms25168657. Int J Mol Sci. 2024. PMID: 39201349 Free PMC article.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: michaud v. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Genotypic spectrum of albinism in Mali.
Diallo M, Sylla O, Sidibé MK, Plaisant C, Mercier E, Sequeira A, Javerzat S, Hadid A, Lasseaux E, Michaud V, Arveiler B. Diallo M, et al. Among authors: michaud v. Pigment Cell Melanoma Res. 2024 Nov;37(6):752-761. doi: 10.1111/pcmr.13175. Epub 2024 May 9. Pigment Cell Melanoma Res. 2024. PMID: 38720644
Proteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred proteins.
Cario M, Scalia J, Mahfouf W, Muzotte E, Michaud V, Plaisant C, Dupuy JW, Douki T, Morice-Picard F, Rambert J, Perrier E, Trompezinski S, Rezvani HR. Cario M, et al. Among authors: michaud v. J Dermatol Sci. 2024 May;114(2):79-82. doi: 10.1016/j.jdermsci.2024.03.006. Epub 2024 Mar 23. J Dermatol Sci. 2024. PMID: 38556435 No abstract available.
Detection of Crimean-Congo haemorrhagic fever virus in Hyalomma marginatum ticks, southern France, May 2022 and April 2023.
Bernard C, Joly Kukla C, Rakotoarivony I, Duhayon M, Stachurski F, Huber K, Giupponi C, Zortman I, Holzmuller P, Pollet T, Jeanneau M, Mercey A, Vachiery N, Lefrançois T, Garros C, Michaud V, Comtet L, Despois L, Pourquier P, Picard C, Journeaux A, Thomas D, Godard S, Moissonnier E, Mely S, Sega M, Pannetier D, Baize S, Vial L. Bernard C, et al. Among authors: michaud v. Euro Surveill. 2024 Feb;29(6):2400023. doi: 10.2807/1560-7917.ES.2024.29.6.2400023. Euro Surveill. 2024. PMID: 38333936 Free PMC article.
172 results