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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2012 1
2013 2
2014 1
2016 1
2017 2
2018 5
2019 4
2020 2
2021 6
2022 2
2023 3
2024 1

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28 results

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Page 1
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.
COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society. Natera-de Benito D, et al. Among authors: cancho candela r. J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2. J Neurol. 2021. PMID: 33387010 Free PMC article.
[Severe diseases with prenatal diagnosis].
Samaniego Fernández CM, Cancho Candela R, Centeno Malfaz F. Samaniego Fernández CM, et al. Among authors: cancho candela r. Cuad Bioet. 2012 Jan-Apr;23(77):195-214. Cuad Bioet. 2012. PMID: 22548667 Free article. Review. Spanish.
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.
[Para-infectious seizures: A retrospective multicentre study].
Conejo Moreno D, Rodríguez Fernández C, Ruíz Ayúcar de la Vega I, Ortiz Madinaveitia S, Hedrera Fernández A, Maldonado Ruiz E, Hernández Fabian A, Hortigüela Saeta MM, Cancho Candela R. Conejo Moreno D, et al. Among authors: cancho candela r. An Pediatr (Barc). 2016 Dec;85(6):300-304. doi: 10.1016/j.anpedi.2016.01.023. Epub 2016 Mar 7. An Pediatr (Barc). 2016. PMID: 26965991 Free article. Spanish.
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.
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
28 results