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Page 1
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Epifani F, Pujol Serra SM, Llorens M, Balcells S, Nolasco G, Bolasell M, Aguilera-Albesa S, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R, Serrano M. Epifani F, et al. Among authors: aguilera albesa s. Sci Rep. 2023 Dec 20;13(1):22783. doi: 10.1038/s41598-023-49518-y. Sci Rep. 2023. PMID: 38129426 Free PMC article.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium. de Diego V, et al. J Inherit Metab Dis. 2017 Sep;40(5):709-713. doi: 10.1007/s10545-017-0028-4. Epub 2017 Mar 24. J Inherit Metab Dis. 2017. PMID: 28341975
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
de Diego V, Martínez-Monseny AF, Muchart J, Cuadras D, Montero R, Artuch R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A, Serrano M; Collaborators of the CDG Spanish-Consortium. de Diego V, et al. J Inherit Metab Dis. 2017 Sep;40(5):753-754. doi: 10.1007/s10545-017-0056-0. J Inherit Metab Dis. 2017. PMID: 28600669 No abstract available.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF, Bolasell M, Callejón-Póo L, Cuadras D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero R, Pérez-Cerdá C, Pérez B, Artuch R, Jaeken J, Serrano M; CDG Spanish Consortium. Martínez-Monseny AF, et al. Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22. Ann Neurol. 2019. PMID: 30873657 Clinical Trial.
Diverse faces of GNAO1: mild forms in epilepsy and autism.
Ludlam WG, Soliani L, Domínguez-Carral J, Cordelli DM, Marchiani V, Gorría-Redondo N, Aguilera-Albesa S, Martemyanov KA, Ortigoza-Escobar JD. Ludlam WG, et al. Among authors: aguilera albesa s. J Neurol. 2024 May 10. doi: 10.1007/s00415-024-12418-w. Online ahead of print. J Neurol. 2024. PMID: 38724739 No abstract available.
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.
Armangue T, Olivé-Cirera G, Martínez-Hernandez E, Sepulveda M, Ruiz-Garcia R, Muñoz-Batista M, Ariño H, González-Álvarez V, Felipe-Rucián A, Jesús Martínez-González M, Cantarín-Extremera V, Concepción Miranda-Herrero M, Monge-Galindo L, Tomás-Vila M, Miravet E, Málaga I, Arrambide G, Auger C, Tintoré M, Montalban X, Vanderver A, Graus F, Saiz A, Dalmau J; Spanish Pediatric anti-MOG Study Group. Armangue T, et al. Lancet Neurol. 2020 Mar;19(3):234-246. doi: 10.1016/S1474-4422(19)30488-0. Epub 2020 Feb 10. Lancet Neurol. 2020. PMID: 32057303
Autoimmune post-herpes simplex encephalitis of adults and teenagers.
Armangue T, Moris G, Cantarín-Extremera V, Conde CE, Rostasy K, Erro ME, Portilla-Cuenca JC, Turón-Viñas E, Málaga I, Muñoz-Cabello B, Torres-Torres C, Llufriu S, González-Gutiérrez-Solana L, González G, Casado-Naranjo I, Rosenfeld M, Graus F, Dalmau J; Spanish Prospective Multicentric Study of Autoimmunity in Herpes Simplex Encephalitis. Armangue T, et al. Neurology. 2015 Nov 17;85(20):1736-43. doi: 10.1212/WNL.0000000000002125. Epub 2015 Oct 21. Neurology. 2015. PMID: 26491084 Free PMC article.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: aguilera albesa s. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
74 results