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A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A, Iruzubieta P, Kapetanovic S, Hernández-Laín A, Jericó I, Fernández-Torrón R, Maneiro M, Marco-Moreno P, Zelaya-Huerta MV, Rodríguez-Santiago B, Calafell F, Töpf A, Straub V, Vallejo-Illarramendi A, López de Munain A, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. Among authors: maneiro m. Eur J Neurol. 2025 Jan;32(1):e16471. doi: 10.1111/ene.16471. Eur J Neurol. 2025. PMID: 39742415 Free PMC article.
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
Fernández-Eulate G, Fernández-Torrón R, Guisasola A, Gaspar MTI, Diaz-Manera J, Maneiro M, Zulaica M, Olasagasti V, Formica AF, Espinal JB, Ruiz M, Schlüter A, Pujol A, Poza JJ, López de Munain A. Fernández-Eulate G, et al. Among authors: maneiro m. Eur J Neurol. 2020 Aug;27(8):1364-1373. doi: 10.1111/ene.14272. Epub 2020 May 24. Eur J Neurol. 2020. PMID: 32320108
Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.
Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell L, Otaegui D, Matheu A, López de Munain A. Fernández-Torrón R, et al. Among authors: maneiro m. Neurology. 2016 Sep 20;87(12):1250-7. doi: 10.1212/WNL.0000000000003124. Epub 2016 Aug 24. Neurology. 2016. PMID: 27558368
Hypoxic ischaemic encephalopathy: lesions on magnetic resonance.
de la Riva P, Maneiro M, Martí-Massó JF, López de Munain A. de la Riva P, et al. Among authors: maneiro m. Neurologia. 2011 Jul-Aug;26(6):371-2. doi: 10.1016/j.nrl.2010.12.005. Epub 2011 Feb 22. Neurologia. 2011. PMID: 21345537 Free article. English, Spanish. No abstract available.
62 results