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815 results

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Page 1
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez C, Natera-de Benito D, Nascimento A, Codina A, Rodriguez MJ, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. Among authors: camacho a. J Med Genet. 2023 Jun;60(6):615-619. doi: 10.1136/jmg-2022-108828. Epub 2022 Dec 19. J Med Genet. 2023. PMID: 36535754 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: camacho a. 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.
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
Cotrina-Vinagre FJ, Rodríguez-García ME, Del Pozo-Filíu L, Hernández-Laín A, Arteche-López A, Morte B, Sevilla M, Pérez-Jurado LA, Quijada-Fraile P, Camacho A, Martínez-Azorín F. Cotrina-Vinagre FJ, et al. Among authors: camacho a. J Hum Genet. 2024 May;69(5):187-196. doi: 10.1038/s10038-024-01228-7. Epub 2024 Feb 14. J Hum Genet. 2024. PMID: 38355957
A case of hypocholesterolemia under study.
Camacho A, Ariza MJ, Amigó N, Macías Guillén P, Sánchez Chaparro MÁ, Valdivielso P. Camacho A, et al. Clin Investig Arterioscler. 2023 Sep-Oct;35(5):244-247. doi: 10.1016/j.arteri.2023.05.003. Epub 2023 Jun 9. Clin Investig Arterioscler. 2023. PMID: 37302939 Free article. English, Spanish.
T-Cell Immune Responses in Newborns and Long-Term Sequelae in Congenital Cytomegalovirus Infection (CYTRIC Study).
Soriano-Ramos M, Pedrero-Tomé R, Giménez Quiles E, Albert Vicent E, Baquero-Artigao F, Rodríguez-Molino P, Del Rosal T, Noguera-Julian A, Fortuny C, Ríos-Barnés M, Saavedra-Lozano J, Dueñas E, Sánchez Mateos M, Castells Vilella L, de la Serna M, Frick MA, de Vergas J, Núñez Enamorado N, Moral-Pumarega MT, Folgueira MD, Navarro D, Blázquez-Gamero D; CYTRIC Study Group. Soriano-Ramos M, et al. J Pediatr. 2024 May 3:114084. doi: 10.1016/j.jpeds.2024.114084. Online ahead of print. J Pediatr. 2024. PMID: 38705230
Epilepsy in Duchenne and Becker muscular dystrophies.
Armijo Gómez JA, Fernandez-Garcia MA, Camacho A, Liz M, Ortez C, Lafuente-Hidalgo M, Toledo Bravo-de Laguna L, Estévez-Arias B, Carrera-García L, Expósito-Escudero J, Domínguez-Carral J, Nascimento A, Natera-de Benito D. Armijo Gómez JA, et al. Among authors: camacho a. Ann Clin Transl Neurol. 2024 May 1. doi: 10.1002/acn3.52058. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38693632 Free article.
Abatacept Pharmacokinetics and Exposure Response in Patients Hospitalized With COVID-19: A Secondary Analysis of the ACTIV-1 IM Randomized Clinical Trial.
Balevic SJ, Benjamin DK Jr, Powderly WG, Smith PB, Gonzalez D, McCarthy MW, Shaw LK, Lindsell CJ, Bozzette S, Williams D, Linas BP, Blamoun J, Javeri H, Hornik CP; ACTIV-1 IM Study Group. Balevic SJ, et al. JAMA Netw Open. 2024 Apr 1;7(4):e247615. doi: 10.1001/jamanetworkopen.2024.7615. JAMA Netw Open. 2024. PMID: 38662372 Free PMC article. Clinical Trial.
815 results