Surace E - Search Results

1

Longitudinal clinical, cognitive and biomarker profiles in dominantly inherited versus sporadic early-onset Alzheimer's disease.

Llibre-Guerra JJ, Iaccarino L, Coble D, Edwards L, Li Y, McDade E, Strom A, Gordon B, Mundada N, Schindler SE, Tsoy E, Ma Y, Lu R, Fagan AM, Benzinger TLS, Soleimani-Meigooni D, Aschenbrenner AJ, Miller Z, Wang G, Kramer JH, Hassenstab J, Rosen HJ, Morris JC, Miller BL, Xiong C, Perrin RJ, Allegri R, Chrem P, Surace E, Berman SB, Chhatwal J, Masters CL, Farlow MR, Jucker M, Levin J, Fox NC, Day G, Gorno-Tempini ML, Boxer AL, La Joie R, Rabinovici GD, Bateman R. Llibre-Guerra JJ, et al. Among authors: surace e. Brain Commun. 2023 Oct 18;5(6):fcad280. doi: 10.1093/braincomms/fcad280. eCollection 2023. Brain Commun. 2023. PMID: 37942088 Free PMC article.

2

Detection of germline mutations in argentine retinoblastoma patients: low and full penetrance retinoblastoma caused by the same germline truncating mutation.

Dalamón V, Surace E, Giliberto F, Ferreiro V, Fernandez C, Szijan I. Dalamón V, et al. Among authors: surace e. J Biochem Mol Biol. 2004 Mar 31;37(2):246-53. doi: 10.5483/bmbrep.2004.37.2.246. J Biochem Mol Biol. 2004. PMID: 15469703

3

Direct deletion analysis in two Duchenne muscular dystrophy symptomatic females using polymorphic dinucleotide (CA)n loci within the dystrophin gene.

Giliberto F, Ferreiro V, Dalamón V, Surace E, Cotignola J, Esperante S, Borelina D, Baranzini S, Szijan I. Giliberto F, et al. Among authors: surace e. J Biochem Mol Biol. 2003 Mar 31;36(2):179-84. doi: 10.5483/bmbrep.2003.36.2.179. J Biochem Mol Biol. 2003. PMID: 12689516

4

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

Szijan I, Rochefort D, Bruder C, Surace E, Machiavelli G, Dalamon V, Cotignola J, Ferreiro V, Campero A, Basso A, Dumanski JP, Rouleau GA. Szijan I, et al. Among authors: surace e. Neuromolecular Med. 2003;3(1):41-52. doi: 10.1385/NMM:3:1:41. Neuromolecular Med. 2003. PMID: 12665675

5

Detection of mutations in argentine retinoblastoma patients by segregation of polymorphisms, exon analysis and cytogenetic test.

Dalamon V, Surace E, Borelina D, Ziembar M, Esperante S, Francipane L, Davila M, Parma D, Szijan I. Dalamon V, et al. Among authors: surace e. Ophthalmic Res. 2001 Nov-Dec;33(6):336-9. doi: 10.1159/000055690. Ophthalmic Res. 2001. PMID: 11721186

6

Detergent resistant membrane-associated IDE in brain tissue and cultured cells: Relevance to Abeta and insulin degradation.

Bulloj A, Leal MC, Surace EI, Zhang X, Xu H, Ledesma MD, Castaño EM, Morelli L. Bulloj A, et al. Mol Neurodegener. 2008 Dec 31;3:22. doi: 10.1186/1750-1326-3-22. Mol Neurodegener. 2008. PMID: 19117523 Free PMC article.

7

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.

8

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.

9

Serine 518 phosphorylation modulates merlin intramolecular association and binding to critical effectors important for NF2 growth suppression.

Rong R, Surace EI, Haipek CA, Gutmann DH, Ye K. Rong R, et al. Oncogene. 2004 Nov 4;23(52):8447-54. doi: 10.1038/sj.onc.1207794. Oncogene. 2004. PMID: 15378014

10

Perry disease in an Argentine family due to the DCTN1 p.G67D variant.

Silva E, Itzcovich T, Niikado M, Caride A, Fernández E, Vázquez JC, Romorini L, Marazita M, Sevlever G, Martinetto H, Surace EI. Silva E, et al. Among authors: surace ei. Parkinsonism Relat Disord. 2022 Apr;97:63-64. doi: 10.1016/j.parkreldis.2022.03.009. Epub 2022 Mar 21. Parkinsonism Relat Disord. 2022. PMID: 35325666 No abstract available.

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