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Page 1
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Zhang M, Xi Z, Zinman L, Bruni AC, Maletta RG, Curcio SA, Rainero I, Rubino E, Pinessi L, Nacmias B, Sorbi S, Galimberti D, Lang AE, Fox S, Surace EI, Ghani M, Guo J, Sato C, Moreno D, Liang Y, Keith J, Traynor BJ, St George-Hyslop P, Rogaeva E. Zhang M, et al. Among authors: surace ei. Brain. 2015 Sep;138(Pt 9):e380. doi: 10.1093/brain/awv082. Epub 2015 Mar 31. Brain. 2015. PMID: 25833818 Free PMC article. No abstract available.
Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.
Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG, Nacmias B, Sorbi S, Galimberti D, Surace EI, Zheng Y, Moreno D, Sato C, Liang Y, Zhou Y, Robertson J, Zinman L, Tartaglia MC, St George-Hyslop P, Rogaeva E. Xi Z, et al. Among authors: surace ei. Hum Mol Genet. 2014 Nov 1;23(21):5630-7. doi: 10.1093/hmg/ddu279. Epub 2014 Jun 6. Hum Mol Genet. 2014. PMID: 24908669 Free article.
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Ghani M, Lang AE, Zinman L, Nacmias B, Sorbi S, Bessi V, Tedde A, Tartaglia MC, Surace EI, Sato C, Moreno D, Xi Z, Hung R, Nalls MA, Singleton A, St George-Hyslop P, Rogaeva E. Ghani M, et al. Among authors: surace ei. Neurobiol Aging. 2015 Jan;36(1):545.e9-14. doi: 10.1016/j.neurobiolaging.2014.07.038. Epub 2014 Aug 1. Neurobiol Aging. 2015. PMID: 25174650 Free PMC article.
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E. Xi Z, et al. Among authors: surace ei. Acta Neuropathol. 2015 May;129(5):715-27. doi: 10.1007/s00401-015-1401-8. Epub 2015 Feb 26. Acta Neuropathol. 2015. PMID: 25716178 Free article.
Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina.
Itzcovich T, Xi Z, Martinetto H, Chrem-Méndez P, Russo MJ, de Ambrosi B, Uchitel OD, Nogués M, Silva E, Rojas G, Bagnatti P, Amengual A, Campos J, Rogaeva E, St George-Hyslop P, Allegri R, Sevlever G, Surace EI. Itzcovich T, et al. Among authors: surace ei. Neurobiol Aging. 2016 Apr;40:192.e13-192.e15. doi: 10.1016/j.neurobiolaging.2016.02.001. Epub 2016 Feb 6. Neurobiol Aging. 2016. PMID: 26925510
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC). Zhang M, et al. Among authors: surace ei. Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238. Brain. 2018. PMID: 30252044 Free PMC article.
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Gatto EM, Allegri RF, Da Prat G, Chrem Mendez P, Hanna DS, Dorschner MO, Surace EI, Zabetian CP, Mata IF. Gatto EM, et al. Among authors: surace ei. Neurobiol Aging. 2017 May;53:195.e11-195.e17. doi: 10.1016/j.neurobiolaging.2017.02.002. Epub 2017 Feb 10. Neurobiol Aging. 2017. PMID: 28268100 Free PMC article.
Evaluation of Cerebrospinal Fluid Neurofilament Light Chain as a Routine Biomarker in a Memory Clinic.
Niikado M, Chrem-Méndez P, Itzcovich T, Barbieri-Kennedy M, Calandri I, Martinetto H, Serra M, Calvar J, Campos J, Russo MJ, Pertierra L, Allegri R, Sevlever G, Surace EI. Niikado M, et al. Among authors: surace ei. J Gerontol A Biol Sci Med Sci. 2019 Mar 14;74(4):442-445. doi: 10.1093/gerona/gly179. J Gerontol A Biol Sci Med Sci. 2019. PMID: 30107413
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J, Aguillón D, Cochran JN, Giraldo M, Madrigal L, Killingsworth BW, Singhal R, Labib S, Alzate D, Velilla L, Moreno S, García GP, Saldarriaga A, Piedrahita F, Hincapié L, López HE, Perumal N, Morelo L, Vallejo D, Solano JM, Reiman EM, Surace EI, Itzcovich T, Allegri R, Sánchez-Valle R, Villegas-Lanau A, White CL 3rd, Matallana D, Myers RM, Browning SR, Lopera F, Kosik KS. Acosta-Uribe J, et al. Among authors: surace ei. Genome Med. 2022 Mar 8;14(1):27. doi: 10.1186/s13073-022-01035-9. Genome Med. 2022. PMID: 35260199 Free PMC article.
47 results