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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J, Ruiz-Pesini E. Emperador S, et al. Among authors: montoya j. Orphanet J Rare Dis. 2024 Apr 6;19(1):148. doi: 10.1186/s13023-024-03165-2. Orphanet J Rare Dis. 2024. PMID: 38582886 Free PMC article.
Helper T cell immunity in humans with inherited CD4 deficiency.
Guérin A, Moncada-Vélez M, Jackson K, Ogishi M, Rosain J, Mancini M, Langlais D, Nunez A, Webster S, Goyette J, Khan T, Marr N, Avery DT, Rao G, Waterboer T, Michels B, Neves E, Iracema Morais C, London J, Mestrallet S, Quartier Dit Maire P, Neven B, Rapaport F, Seeleuthner Y, Lev A, Simon AJ, Montoya J, Barel O, Gómez-Rodríguez J, Orrego JC, L'Honneur AS, Soudée C, Rojas J, Velez AC, Sereti I, Terrier B, Marin N, García LF, Abel L, Boisson-Dupuis S, Reis J, Marinho A, Lisco A, Faria E, Goodnow CC, Vasconcelos J, Béziat V, Ma CS, Somech R, Casanova JL, Bustamante J, Franco JL, Tangye SG. Guérin A, et al. Among authors: montoya j. J Exp Med. 2024 May 6;221(5):e20231044. doi: 10.1084/jem.20231044. Epub 2024 Apr 1. J Exp Med. 2024. PMID: 38557723 Free PMC article.
941 results