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Page 1
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: vilchez r. 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.
Clinical spectrum of BICD2 mutations.
Frasquet M, Camacho A, Vílchez R, Argente-Escrig H, Millet E, Vázquez-Costa JF, Silla R, Sánchez-Monteagudo A, Vílchez JJ, Espinós C, Lupo V, Sevilla T. Frasquet M, et al. Among authors: vilchez r. Eur J Neurol. 2020 Jul;27(7):1327-1335. doi: 10.1111/ene.14173. Epub 2020 Mar 16. Eur J Neurol. 2020. PMID: 32056343
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: vilchez r. Eur J Neurol. 2021 Apr;28(4):1356-1365. doi: 10.1111/ene.14630. Epub 2020 Dec 5. Eur J Neurol. 2021. PMID: 33151602
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: vilchez r. Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12817. doi: 10.1111/nan.12817. Epub 2022 Apr 10. Neuropathol Appl Neurobiol. 2022. PMID: 35342985
Alterations in Mitochondrial Oxidative Phosphorylation System: Relationship of Complex V and Cardiac Dysfunction in Human Heart Failure.
Giménez-Escamilla I, Benedicto C, Pérez-Carrillo L, Delgado-Arija M, González-Torrent I, Vilchez R, Martínez-Dolz L, Portolés M, Tarazón E, Roselló-Lletí E. Giménez-Escamilla I, et al. Among authors: vilchez r. Antioxidants (Basel). 2024 Feb 26;13(3):285. doi: 10.3390/antiox13030285. Antioxidants (Basel). 2024. PMID: 38539818 Free PMC article.
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J, Navarrete I, Azorín I, Martí P, Vílchez R, Muelas N, Cabello-Murgui J, Millet E, Vázquez-Costa JF, Vílchez JJ, Sevilla T, Sivera R. Jiménez-Jiménez J, et al. Among authors: vilchez r. Eur J Neurol. 2024 Oct;31(10):e16416. doi: 10.1111/ene.16416. Epub 2024 Jul 25. Eur J Neurol. 2024. PMID: 39051710 Free PMC article.
117 results