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23 results

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Page 1
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.
Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera I, Artuch R, Jou C, Roldán M, Arango-Sancho P, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Farré R, Pijuan J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM, Palau F. Godoy-Molina E, et al. Among authors: pijuan j. J Clin Invest. 2025 Jul 29;135(19):e193107. doi: 10.1172/JCI193107. eCollection 2025 Oct 1. J Clin Invest. 2025. PMID: 40728898 Free PMC article. No abstract available.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: pijuan j. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
Pascual A, Moulka T, de Fàbregues O, Repossi R, García-Ruiz PJ, Ortolano S, De Lucca M, Vela-Desojo L, Alves-Villar M, Frías M, Feliz-Feliz C, Roldán M, Olival J, Fernàndez G, Palau F, Pijuan J, Hoenicka J. Pascual A, et al. Among authors: pijuan j. Int J Mol Sci. 2025 Sep 27;26(19):9454. doi: 10.3390/ijms26199454. Int J Mol Sci. 2025. PMID: 41096722 Free PMC article.
Oxidative stress-induced FAK activation contributes to uterine serous carcinoma aggressiveness.
Lopez-Mejia IC, Pijuan J, Navaridas R, Santacana M, Gatius S, Velasco A, Castellà G, Panosa A, Cabiscol E, Pinyol M, Coll L, Bonifaci N, Peña LP, Vidal A, Villanueva A, Gari E, Llobet-Navàs D, Fajas L, Matias-Guiu X, Yeramian A. Lopez-Mejia IC, et al. Among authors: pijuan j. Mol Oncol. 2023 Jan;17(1):98-118. doi: 10.1002/1878-0261.13346. Epub 2022 Dec 7. Mol Oncol. 2023. PMID: 36409196 Free PMC article.
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