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Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: esteve codina a. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333429
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.
Segarra-Casas A, Yépez VA, Demidov G, Laurie S, Esteve-Codina A, Gagneur J, Parkhurst Y, Muni-Lofra R, Harris E, Marini-Bettolo C, Straub V, Töpf A. Segarra-Casas A, et al. Among authors: esteve codina a. Int J Mol Sci. 2024 Jul 16;25(14):7793. doi: 10.3390/ijms25147793. Int J Mol Sci. 2024. PMID: 39063034 Free PMC article.
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: esteve codina a. Eur J Hum Genet. 2024 Dec 10. doi: 10.1038/s41431-024-01756-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39658675 No abstract available.
Temporal and spatial frameworks supporting plant responses to vegetation proximity.
Pastor-Andreu P, Moreno-Romero J, Urdin-Bravo M, Palau-Rodriguez J, Paulisic S, Kastanaki E, Vives-Peris V, Gomez-Cadenas A, Esteve-Codina A, Martín-Mur B, Rodríguez-Villalón A, Martínez-García JF. Pastor-Andreu P, et al. Among authors: esteve codina a. Plant Physiol. 2024 Nov 4;196(3):2048-2063. doi: 10.1093/plphys/kiae417. Plant Physiol. 2024. PMID: 39140970 Free PMC article.
Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models.
Puighermanal E, Luna-Sánchez M, Gella A, van der Walt G, Urpi A, Royo M, Tena-Morraja P, Appiah I, de Donato MH, Menardy F, Bianchi P, Esteve-Codina A, Rodríguez-Pascau L, Vergara C, Gómez-Pallarès M, Marsicano G, Bellocchio L, Martinell M, Sanz E, Jurado S, Soriano FX, Pizcueta P, Quintana A. Puighermanal E, et al. Among authors: esteve codina a. Nat Commun. 2024 Sep 4;15(1):7730. doi: 10.1038/s41467-024-51884-8. Nat Commun. 2024. PMID: 39231983 Free PMC article.
110 results