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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.
Use of lanreotide in combination with cabergoline or pegvisomant in patients with acromegaly in the clinical practice: The ACROCOMB study.
Puig-Domingo M, Soto A, Venegas E, Vilchez R, Blanco C, Cordido F, Lucas T, Marazuela M, Casany R, Cuatrecasas G, Fajardo C, Gálvez MÁ, Maraver S, Martín T, Romero E, Paja M, Picó A, Bernabeu I, Resmini E; ACROCOMB study group. Puig-Domingo M, et al. Among authors: vilchez r. Endocrinol Nutr. 2016 Oct;63(8):397-408. doi: 10.1016/j.endonu.2016.05.010. Epub 2016 Jul 20. Endocrinol Nutr. 2016. PMID: 27448708 Free article. English, Spanish.
115 results