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Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Sivera R, Pelayo-Negro AL, Jericó I, Domínguez-González C, Horga A, Rodriguez De Rivera FJ, Gallardo E, Tembl JI, Bermejo-Guerrero L, Pagola Lorz MI, Azorín I, Cordoba M, Fenollar-Cortés MDM, Millet E, Vilchez JJ, Espinós C, Apellániz-Ruiz M, Sevilla T. Sivera R, et al. Among authors: azorin i. Neurology. 2024 Apr 9;102(7):e209174. doi: 10.1212/WNL.0000000000209174. Epub 2024 Mar 21. Neurology. 2024. PMID: 38513194
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Poyatos-García J, Martí P, Liquori A, Muelas N, Pitarch I, Martinez-Dolz L, Rodríguez B, Gonzalez-Quereda L, Damiá M, Aller E, Selva-Gimenez M, Vilchez R, Diaz-Manera J, Alonso-Pérez J, Barcena JE, Jauregui A, Gámez J, Aladrén JA, Fernández A, Montolio M, Azorin I, Hervas D, Casasús A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Poyatos-García J, et al. Among authors: azorin i. Ann Neurol. 2022 Nov;92(5):793-806. doi: 10.1002/ana.26461. Epub 2022 Sep 7. Ann Neurol. 2022. PMID: 35897138 Free PMC article.
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig H, Vílchez JJ, Frasquet M, Muelas N, Azorín I, Vílchez R, Millet-Sancho E, Pitarch I, Tomás-Vila M, Vázquez-Costa JF, Mas-Estellés F, Marco-Marín C, Espinós C, Serrano-Lorenzo P, Martin MA, Lupo V, Sevilla T. Argente-Escrig H, et al. Among authors: azorin i. Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12817. doi: 10.1111/nan.12817. Epub 2022 Apr 10. Neuropathol Appl Neurobiol. 2022. PMID: 35342985
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV, Tomás-Vila M, Montoya-Filardi A, Barranco-González H, Vilchez Padilla JJ, Azorín I, Smeyers Dura P, Monfort-Membrado S, Pitarch-Castellano I, Martínez-Castellano F. Marco-Hernández AV, et al. Among authors: azorin i. Clin Genet. 2022 Feb;101(2):233-241. doi: 10.1111/cge.14093. Epub 2021 Dec 5. Clin Genet. 2022. PMID: 34842280
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Muelas N, Frasquet M, Más-Estellés F, Martí P, Martínez-Vicente L, Sevilla T, Azorín I, Poyatos-García J, Argente-Escrig H, Vílchez R, Vázquez-Costa JF, Bataller L, Vilchez JJ. Muelas N, et al. Among authors: azorin i. Eur J Neurol. 2021 Apr;28(4):1356-1365. doi: 10.1111/ene.14630. Epub 2020 Dec 5. Eur J Neurol. 2021. PMID: 33151602
Influence of heart failure on nucleolar organization and protein expression in human hearts.
Roselló-Lletí E, Rivera M, Cortés R, Azorín I, Sirera R, Martínez-Dolz L, Hove L, Cinca J, Lago F, González-Juanatey JR, Salvador A, Portolés M. Roselló-Lletí E, et al. Among authors: azorin i. Biochem Biophys Res Commun. 2012 Feb 10;418(2):222-8. doi: 10.1016/j.bbrc.2011.12.151. Epub 2012 Jan 8. Biochem Biophys Res Commun. 2012. PMID: 22244875
32 results