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

Year Number of Results
1967 1
1983 1
1986 1
1987 1
1989 1
1990 1
1994 1
1998 2
2001 1
2003 2
2005 3
2006 3
2007 4
2008 4
2009 4
2010 8
2011 8
2012 11
2013 10
2014 11
2015 6
2016 8
2017 3
2018 5
2019 7
2020 8
2021 6
2022 9
2023 3
2024 11
2025 1

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126 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 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: marti p. 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.
Hydroxychloroquine-Induced Retinal Toxicity.
Iselin KC, Marti P, Pless M. Iselin KC, et al. Among authors: marti p. Klin Monbl Augenheilkd. 2016 Apr;233(4):514-6. doi: 10.1055/s-0042-102615. Epub 2016 Apr 26. Klin Monbl Augenheilkd. 2016. PMID: 27116524 English. No abstract available.
[Submucous large-bowel lipomas].
Pastor C, Valentí V, Poveda I, Martí P, Zozaya G, Baixauli J, Hernández-Lizoáin JL. Pastor C, et al. Among authors: marti p. Rev Esp Enferm Dig. 2007 May;99(5):299-300. doi: 10.4321/s1130-01082007000500012. Rev Esp Enferm Dig. 2007. PMID: 17650942 Free article. Spanish. 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: marti p. 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.
[Music therapy].
Mercadal M, Martí P. Mercadal M, et al. Among authors: marti p. Rev Enferm. 2005 Mar;28(3):54-8. Rev Enferm. 2005. PMID: 15871344 Spanish.
Trends in use of 3D printing in vascular surgery: a survey.
Marti P, Lampus F, Benevento D, Setacci C. Marti P, et al. Int Angiol. 2019 Oct;38(5):418-424. doi: 10.23736/S0392-9590.19.04148-8. Epub 2019 Sep 20. Int Angiol. 2019. PMID: 31560185 Free article. Review.
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: marti p. 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.
126 results