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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.
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.
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