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Page 1
Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.
Dols-Icardo O, Carbayo Á, Jericó I, Blasco-Martínez O, Álvarez-Sánchez E, López Pérez MA, Bernal S, Rodríguez-Santiago B, Cusco I, Turon-Sans J, Cabezas-Torres M, Caballero-Ávila M, Vesperinas A, Llansó L, Pagola-Lorz I, Torné L, Valle-Tamayo N, Muñoz L, Rubio-Guerra S, Illán-Gala I, Cortés-Vicente E, Gelpi E, Rojas-García R. Dols-Icardo O, et al. Among authors: torne l. J Neurol Neurosurg Psychiatry. 2024 Jul 2:jnnp-2024-333834. doi: 10.1136/jnnp-2024-333834. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38960585 Free article.
Clinical features and incidence trends of amyotrophic lateral sclerosis in Navarre, Spain, 2007-2018: a population-based study.
Jericó I, Elizalde-Beiras I, Pagola I, Torné L, Galbete A, Delfrade-Osinaga J, Vicente E. Jericó I, et al. Among authors: torne l. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug;22(5-6):401-409. doi: 10.1080/21678421.2021.1891249. Epub 2021 Feb 27. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33641502
Ensuring that the NHS realises fair financial value from its data.
Fontana G, Ghafur S, Torne L, Goodman J, Darzi A. Fontana G, et al. Among authors: torne l. Lancet Digit Health. 2020 Jan;2(1):e10-e12. doi: 10.1016/S2589-7500(19)30225-0. Epub 2019 Dec 23. Lancet Digit Health. 2020. PMID: 33328033 Free article. No abstract available.
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.
Gonzalez-Quereda L, Pagola I, Fuentes Prior P, Bernal S, Rodriguez MJ, Torné L, Salgado Garrido J, Gallano P, Jericó I. Gonzalez-Quereda L, et al. Among authors: torne l. Ann Clin Transl Neurol. 2021 Jan;8(1):294-299. doi: 10.1002/acn3.51265. Epub 2020 Dec 4. Ann Clin Transl Neurol. 2021. PMID: 33275839 Free PMC article.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Among authors: torne l. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
Integrated miRNA and mRNA expression profiling identifies novel targets and pathological mechanisms in autoimmune thyroid diseases.
Martínez-Hernández R, Serrano-Somavilla A, Ramos-Leví A, Sampedro-Nuñez M, Lens-Pardo A, Muñoz De Nova JL, Triviño JC, González MU, Torné L, Casares-Arias J, Martín-Cófreces NB, Sánchez-Madrid F, Marazuela M. Martínez-Hernández R, et al. Among authors: torne l. EBioMedicine. 2019 Dec;50:329-342. doi: 10.1016/j.ebiom.2019.10.061. Epub 2019 Nov 14. EBioMedicine. 2019. PMID: 31735554 Free PMC article.
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