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ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Evans DG, Mostaccioli S, Pang D, Fadzil O Connor M, Pittara M, Champollion N, Wolkenstein P, Thomas N, Ferner RE, Kalamarides M, Peyre M, Papi L, Legius E, Becerra JL, King A, Duff C, Stivaros S, Blanco I. Evans DG, et al. Among authors: becerra jl. Eur J Hum Genet. 2022 Jul;30(7):812-817. doi: 10.1038/s41431-022-01086-x. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361920 Free PMC article.
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
Castellanos E, Plana A, Carrato C, Carrió M, Rosas I, Amilibia E, Roca-Ribas F, Hostalot C, Castillo A, Ros A, Quer A, Becerra JL, Salvador H, Lázaro C, Blanco I, Serra E, Bielsa I; for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP. Castellanos E, et al. Among authors: becerra jl. JAMA Dermatol. 2018 Mar 1;154(3):341-346. doi: 10.1001/jamadermatol.2017.5464. JAMA Dermatol. 2018. PMID: 29322178 Free PMC article.
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP. Catasús N, et al. Among authors: becerra jl. J Med Genet. 2022 Jul;59(7):678-686. doi: 10.1136/jmedgenet-2020-107548. Epub 2021 Aug 4. J Med Genet. 2022. PMID: 34348961
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I. Garcia B, et al. Among authors: becerra jl. J Med Genet. 2022 Oct;59(10):1017-1023. doi: 10.1136/jmedgenet-2021-108301. Epub 2022 Feb 4. J Med Genet. 2022. PMID: 35121649
Correlation of blood biomarkers with early-onset seizures after an acute stroke event.
Abraira L, Giannini N, Santamarina E, Cazorla S, Bustamante A, Quintana M, Toledo M, Grau-López L, Jiménez M, Ciurans J, Becerra JL, Millán M, Cardona P, Terceño M, Zaragoza J, Cánovas D, Gasull T, Ustrell X, Rubiera M, Castellanos M, Dávalos A, Montaner J, Álvarez-Sabin J. Abraira L, et al. Among authors: becerra jl. Epilepsy Behav. 2020 Mar;104(Pt B):106549. doi: 10.1016/j.yebeh.2019.106549. Epub 2019 Oct 31. Epilepsy Behav. 2020. PMID: 31677998
Workflows and Outcomes in Patients With Suspected Large Vessel Occlusion Stroke Triaged in Urban and Nonurban Areas.
Garcia-Tornel A, Millan M, Rubiera M, Bustamante A, Requena M, Dorado L, Olivé-Gadea M, Jiménez X, Soto A, Querol M, Hernández-Pérez M, Gomis M, Cardona P, Urra X, Purroy F, Silva Y, Ustrell X, Esteve P, Salvat-Plana M, Gallofré M, Molina C, Dávalos A, Jovin T, Abilleira S, Ribo M, Pérez de la Ossa N; RACECAT Trial Investigators. Garcia-Tornel A, et al. Stroke. 2022 Dec;53(12):3728-3740. doi: 10.1161/STROKEAHA.122.040768. Epub 2022 Oct 19. Stroke. 2022. PMID: 36259411
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