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162 results

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Page 1
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.
Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ. Muelas N, et al. Among authors: vilchez jj. Neurology. 2010 Aug 24;75(8):732-41. doi: 10.1212/WNL.0b013e3181eee4d5. Neurology. 2010. PMID: 20733148
Peripheral nerve hyperexcitability: a clinical and immunologic study of 38 patients.
Rubio-Agusti I, Perez-Miralles F, Sevilla T, Muelas N, Chumillas MJ, Mayordomo F, Azorin I, Carmona E, Moscardo F, Palau J, Jacobson L, Vincent A, Vilchez JJ, Bataller L. Rubio-Agusti I, et al. Among authors: vilchez jj. Neurology. 2011 Jan 11;76(2):172-8. doi: 10.1212/WNL.0b013e3182061b1e. Neurology. 2011. PMID: 21220721
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C. Sivera R, et al. Among authors: vilchez jj. Neurology. 2013 Oct 29;81(18):1617-25. doi: 10.1212/WNL.0b013e3182a9f56a. Epub 2013 Sep 27. Neurology. 2013. PMID: 24078732 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, vilchez jj. Eur J Neurol. 2020 Jul;27(7):1327-1335. doi: 10.1111/ene.14173. Epub 2020 Mar 16. Eur J Neurol. 2020. PMID: 32056343
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, vilchez jj. 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.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: vilchez jj. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 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 jj. 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.
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia.
Sivera R, Martín N, Boscá I, Sevilla T, Muelas N, Azorín I, Vílchez JJ, Bolonio M, Donat E, Ribes-Koninckx C, Bataller L. Sivera R, et al. Among authors: vilchez jj. J Neurol. 2012 May;259(5):851-4. doi: 10.1007/s00415-011-6266-8. Epub 2011 Oct 8. J Neurol. 2012. PMID: 21984193
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: vilchez jj. Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23. Neuromuscul Disord. 2015. PMID: 25998610
162 results