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Page 1
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Mavillard F, Servian-Morilla E, Dofash L, Rojas-Marcos I, Folland C, Monahan G, Gutierrez-Gutierrez G, Rivas E, Hernández-Lain A, Valladares A, Cantero G, Morales JM, Laing NG, Paradas C, Ravenscroft G, Cabrera-Serrano M. Mavillard F, et al. Among authors: servian morilla e. Brain. 2023 Dec 1;146(12):5235-5248. doi: 10.1093/brain/awad256. Brain. 2023. PMID: 37503746
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Domínguez-González C, Fernández-Torrón R, Moore U, de Fuenmayor-Fernández de la Hoz CP, Vélez-Gómez B, Cabezas JA, Alonso-Pérez J, González-Mera L, Olivé M, García-García J, Moris G, León Hernández JC, Muelas N, Servian-Morilla E, Martin MA, Díaz-Manera J, Paradas C. Domínguez-González C, et al. Among authors: servian morilla e. J Neurol. 2022 Jul;269(7):3550-3562. doi: 10.1007/s00415-021-10957-0. Epub 2022 Mar 14. J Neurol. 2022. PMID: 35286480 Free PMC article.
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing N, Olivé M. González-Mera L, et al. Among authors: servian morilla e. Neuropathol Appl Neurobiol. 2021 Feb;47(2):283-296. doi: 10.1111/nan.12663. Epub 2020 Sep 28. Neuropathol Appl Neurobiol. 2021. PMID: 32896923
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C. Servián-Morilla E, et al. Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9. Acta Neuropathol Commun. 2019. PMID: 30823891 Free PMC article.
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.
Servián-Morilla E, Robles-Lanuza E, Sánchez-Hidalgo AC, Camacho-Garcia RJ, Paez-Gomez JA, Mavillard F, Saura CA, Martinez-Mir A, Scholl FG. Servián-Morilla E, et al. J Neurosci. 2018 Jan 24;38(4):901-917. doi: 10.1523/JNEUROSCI.1357-17.2017. Epub 2017 Dec 11. J Neurosci. 2018. PMID: 29229705 Free PMC article.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C. Carbonell-Corvillo P, et al. Among authors: servian morilla e. Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26. Neuromuscul Disord. 2018. PMID: 30166250 Free article.
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Mavillard F, Guerra-Castellano A, Guerrero-Gómez D, Rivas E, Cantero G, Servian-Morilla E, Folland C, Ravenscroft G, Martín MA, Miranda-Vizuete A, Cabrera-Serrano M, Diaz-Moreno I, Paradas C. Mavillard F, et al. Among authors: servian morilla e. Biochim Biophys Acta Mol Basis Dis. 2024 Oct;1870(7):167330. doi: 10.1016/j.bbadis.2024.167330. Epub 2024 Jul 1. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38960055 Free article. No abstract available.
15 results