Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

33 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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: cancho candela r. Sci Rep. 2023 Dec 20;13(1):22783. doi: 10.1038/s41598-023-49518-y. Sci Rep. 2023. PMID: 38129426 Free PMC article.
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.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Among authors: cancho candela r. Pediatr Neurol. 2024 Mar 14;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Online ahead of print. Pediatr Neurol. 2024. PMID: 38569228
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038
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: cancho candela r. 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.
The Paediatric Palliative Care Unit has been transformed into Home Care Unit during the COVID-19 pandemic. Is this transformation here to stay?: Transformación de una Unidad de Cuidados Paliativos Pediátricos en Unidad de Atencion Domiciliaria a raíz de la pandemia COVID-19. ¿Llegó para quedarse?
Del Villar Guerra P, Martínez Flórez A, Catalina Fernández C, Cancho Candela R, Centeno Malfaz F. Del Villar Guerra P, et al. Among authors: cancho candela r. An Pediatr (Engl Ed). 2022 May;96(5):449-451. doi: 10.1016/j.anpede.2021.01.011. Epub 2022 Apr 18. An Pediatr (Engl Ed). 2022. PMID: 35550789 Free PMC article. No abstract available.
Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders.
Olivé-Cirera G, Fonseca E, Cantarín-Extremera V, Vázquez-López M, Jiménez-Legido M, González-Álvarez V, Ribeiro-Constante J, Camacho-Salas A, Martí I, Cancho-Candela R, Martínez-González MJ, Saiz A, Armangué T; Spanish Study Group NeuroimmunoPed-Covid. Olivé-Cirera G, et al. Among authors: cancho candela r. Neurol Neuroimmunol Neuroinflamm. 2021 Nov 10;9(1):e1101. doi: 10.1212/NXI.0000000000001101. Print 2022 Jan. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34759018 Free PMC article.
33 results