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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.
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: bernal s. J Neuromuscul Dis. 2023;10(4):653-665. doi: 10.3233/JND-230012. J Neuromuscul Dis. 2023. PMID: 37038823 Free PMC article.
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.
Frongia AL, Natera-de Benito D, Ortez C, Alarcón M, Borrás A, Medina J, Vigo M, Padrós N, Moya O, Armas J, Carrera-García L, Expósito-Escudero J, Cuadras D, Bernal S, Martorell L, Colomer J, Nascimento A. Frongia AL, et al. Among authors: bernal s. Neuromuscul Disord. 2019 Jul;29(7):517-524. doi: 10.1016/j.nmd.2019.04.003. Epub 2019 Apr 18. Neuromuscul Disord. 2019. PMID: 31201046
Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.
Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. Carbayo Á, et al. Among authors: bernal s. Brain. 2024 Jul 5;147(7):2357-2367. doi: 10.1093/brain/awae011. Brain. 2024. PMID: 38227807 Free PMC article.
275 results