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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS. Medico Salsench E, et al. Among authors: vargas m. Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297. Brain. 2021. PMID: 34373908 Free PMC article. No abstract available.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: vargas m. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: vargas m. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free PMC article. Review.
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Benavides N, Spessott WA, Sanmillan ML, Vargas M, Livingston MS, Erickson N, Pozos TC, McCormick ME, Scharrig E, Messinger YH, Giraudo CG. Benavides N, et al. Among authors: vargas m. Front Immunol. 2020 Oct 8;11:545414. doi: 10.3389/fimmu.2020.545414. eCollection 2020. Front Immunol. 2020. PMID: 33162974 Free PMC article.
Heat stable and intrinsically sterile liquid protein formulations.
Lawanprasert A, Singh H, Pimcharoen S, Vargas MG, Dewan A, Kirimanjeswara GS, Medina SH. Lawanprasert A, et al. Among authors: vargas mg. Nat Commun. 2024 Dec 30;15(1):10897. doi: 10.1038/s41467-024-55304-9. Nat Commun. 2024. PMID: 39738105 Free PMC article.
Associations of intraoperative end-tidal CO2 levels with postoperative outcome-secondary analysis of a worldwide observational study.
Nasa P, van Meenen DMP, Paulus F, de Abreu MG, Bossers SM, Schober P, Schultz MJ, Neto AS, Hemmes SNT; LAS VEGAS-investigators; PROVE Network; ESAIC CTN; LAS VEGAS collaborators. Nasa P, et al. J Clin Anesth. 2024 Dec 19;101:111728. doi: 10.1016/j.jclinane.2024.111728. Online ahead of print. J Clin Anesth. 2024. PMID: 39705739 Free article.
Assessment of the available evidence for the use of 7-Tesla (T) magnetic resonance imaging (MRI) in neurological and musculoskeletal disorders, with comparison to 3-T and 1.5-T MRI: A systematic scoping review.
Radojewski P, Piredda GF, Bonanno G, Lövblad KO, Vargas MI, Sutter R, Nanz D, Karrer T, Salanti G, Wiest R. Radojewski P, et al. Among authors: vargas mi. Eur J Neurol. 2025 Jan;32(1):e16557. doi: 10.1111/ene.16557. Eur J Neurol. 2025. PMID: 39676509 Free PMC article.
A polygeneric immunogen composed of 22 venoms from sub-Saharan African snakes to expand the neutralization scope of the EchiTAb-plus-ICP antivenom.
Sánchez A, Durán G, Cerdas M, Gutiérrez J, Segura Á, Herrera M, Vargas M, Sánchez A, Sánchez P, Solano G, Villalta M, Moscoso E, Umaña D, Arguedas M, Gómez A, Gutiérrez JM, León G. Sánchez A, et al. Among authors: vargas m. Toxicon X. 2024 Nov 16;24:100213. doi: 10.1016/j.toxcx.2024.100213. eCollection 2024 Dec. Toxicon X. 2024. PMID: 39640251 Free PMC article.
1,983 results