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2023 | 3 |
2024 | 1 |
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Page 1
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
J Transl Med. 2023 Oct 26;21(1):756. doi: 10.1186/s12967-023-04622-5.
J Transl Med. 2023.
PMID: 37884937
Free PMC article.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D.
Justel M, et al. Among authors: musokhranova u.
J Med Genet. 2023 Oct;60(10):965-973. doi: 10.1136/jmg-2022-109132. Epub 2023 May 16.
J Med Genet. 2023.
PMID: 37197784
Free PMC article.
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Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Juliá-Palacios N, Ribeiro-Constante J, Altafaj X, Olivella M, O'Callaghan M, Darling A, Armstrong J, Artuch R, García-Cazorla À, Oyarzábal A.
Illescas S, et al. Among authors: musokhranova u.
J Inherit Metab Dis. 2024 May;47(3):551-569. doi: 10.1002/jimd.12689. Epub 2023 Nov 16.
J Inherit Metab Dis. 2024.
PMID: 37932875
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