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

Year Number of Results
2003 3
2004 2
2005 2
2006 1
2007 1
2008 3
2009 2
2011 2
2012 4
2013 2
2014 2
2015 5
2016 5
2017 3
2018 1
2019 9
2020 9
2021 9
2022 8
2023 5
2024 1

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71 results

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Page 1
Congenital myopathies.
Sewry CA, Jimenez-Mallebrera C, Muntoni F. Sewry CA, et al. Among authors: jimenez mallebrera c. Curr Opin Neurol. 2008 Oct;21(5):569-75. doi: 10.1097/WCO.0b013e32830f93c7. Curr Opin Neurol. 2008. PMID: 18769251 Review.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.
Garrido-Pérez N, Vela-Sebastián A, López-Gallardo E, Emperador S, Iglesias E, Meade P, Jiménez-Mallebrera C, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E. Garrido-Pérez N, et al. Among authors: jimenez mallebrera c. Int J Mol Sci. 2020 May 10;21(9):3374. doi: 10.3390/ijms21093374. Int J Mol Sci. 2020. PMID: 32397676 Free PMC article. Review.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C, Nascimento A, Codina A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero R, Natera-de Benito D, Ortez CI, Marquez J, Zelaya MV, Gutierrez-Mata A, Badosa C, Carrera-García L, Expósito-Escudero J, Roldán M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C, Artuch R. Jou C, et al. Among authors: jimenez mallebrera c. Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002. Int J Mol Sci. 2022. PMID: 36232299 Free PMC article.
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: jimenez mallebrera c. 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.
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
Trifunov S, Natera-de Benito D, Carrera-García L, Codina A, Expósito-Escudero J, Ortez C, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa C, Balsells S, Alcolea D, Nascimento A, Jimenez-Mallebrera C. Trifunov S, et al. Among authors: jimenez mallebrera c. J Neuromuscul Dis. 2023;10(4):653-665. doi: 10.3233/JND-230012. J Neuromuscul Dis. 2023. PMID: 37038823 Free PMC article.
71 results