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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1979 5
1980 2
1982 1
1985 1
1986 1
1987 2
1988 1
1989 2
1990 1
1991 1
1993 3
1994 2
1995 6
1996 2
1997 5
1998 2
1999 4
2000 1
2001 2
2002 2
2003 2
2004 2
2005 2
2006 1
2007 3
2008 3
2009 4
2010 4
2011 7
2012 7
2013 3
2014 3
2015 8
2016 10
2017 8
2018 6
2019 2
2020 9
2021 6
2022 7
2023 1
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Search Results

128 results
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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: vilchez jj. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V. Frasquet M, et al. Among authors: vilchez jj. Eur J Neurol. 2021 Apr;28(4):1334-1343. doi: 10.1111/ene.14700. Epub 2021 Jan 10. Eur J Neurol. 2021. PMID: 33369814
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Kyriakides T, Angelini C, Schaefer J, Sacconi S, Siciliano G, Vilchez JJ, Hilton-Jones D; European Federation of Neurological Societies. Kyriakides T, et al. Among authors: vilchez jj. Eur J Neurol. 2010 Jun 1;17(6):767-73. doi: 10.1111/j.1468-1331.2010.03012.x. Epub 2010 Apr 5. Eur J Neurol. 2010. PMID: 20402744
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group. McDonald CM, et al. Among authors: vilchez jj. Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17. Lancet. 2017. PMID: 28728956 Clinical Trial.
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 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
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, Muelas N, Castañón MJ, Wiche G, Herrmann H, Vilchez JJ, Schröder R. Argente-Escrig H, et al. Among authors: vilchez jj. Neuropathol Appl Neurobiol. 2021 Feb;47(2):352-356. doi: 10.1111/nan.12652. Epub 2020 Aug 23. Neuropathol Appl Neurobiol. 2021. PMID: 32757300 No abstract available.
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 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.
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I; Programa 3 (Enfermedades Neuromusculares) del Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) del Instituto de Salud Carlos III. Berciano J, et al. Among authors: vilchez jj. Neurologia. 2012 Apr;27(3):169-78. doi: 10.1016/j.nrl.2011.04.015. Epub 2011 Jun 23. Neurologia. 2012. PMID: 21703725 Free article. Review. Spanish.
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.
van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Díaz-Cambronero Ó, Løkken N, Hellblom A, Hopkins PM, Rueffert H, Bastian B, Vilchez JJ, Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ. van den Bersselaar LR, et al. Among authors: vilchez jj. Eur J Neurol. 2022 Dec;29(12):3486-3507. doi: 10.1111/ene.15526. Epub 2022 Sep 14. Eur J Neurol. 2022. PMID: 35971866 Free PMC article.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: vilchez jj. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.
128 results