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Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.
Vicente-Pascual M, Rossi M, Gámez J, Lladó A, Valls J, Grau-Rivera O, Ávila Polo R, Llorens F, Zerr I, Ferrer I, Nos C, Parchi P, Sánchez-Valle R, Gelpí E. Vicente-Pascual M, et al. Among authors: avila polo r. Ann Clin Transl Neurol. 2018 Sep 21;5(10):1297-1302. doi: 10.1002/acn3.632. eCollection 2018 Oct. Ann Clin Transl Neurol. 2018. PMID: 30349865 Free PMC article.
Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation.
Ramos-Campoy O, Ávila-Polo R, Grau-Rivera O, Antonell A, Clarimón J, Rojas-García R, Charif S, Santiago-Valera V, Hernandez I, Aguilar M, Almenar C, Lopez-Villegas D, Bajo L, Pastor P, Van der Zee J, Lladó A, Sanchez-Valle R, Gelpi E. Ramos-Campoy O, et al. Among authors: avila polo r. J Neuropathol Exp Neurol. 2018 Aug 1;77(8):703-709. doi: 10.1093/jnen/nly047. J Neuropathol Exp Neurol. 2018. PMID: 29889265 Free article.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M. Mavillard F, et al. Among authors: avila polo r. Ann Clin Transl Neurol. 2019 Nov;6(11):2328-2333. doi: 10.1002/acn3.50910. Epub 2019 Oct 14. Ann Clin Transl Neurol. 2019. PMID: 31612648 Free PMC article.
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.
Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB. Ávila-Polo R, et al. J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095. J Neuropathol Exp Neurol. 2018. PMID: 30365001 Free article.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Among authors: avila polo r. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: avila polo r. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
[Fibrosing colonopathy, an increasing complication of cystic fibrosis].
Gómez Morales L, García Morillo S, Herrera Justiniano JM, Avila Polo R. Gómez Morales L, et al. Among authors: avila polo r. Rev Clin Esp. 2011 Jan;211(1):63-4. doi: 10.1016/j.rce.2010.06.007. Epub 2010 Dec 30. Rev Clin Esp. 2011. PMID: 21194685 Spanish. No abstract available.