Lopez-Escamez JA - Search Results

1

Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus.

Gallego-Martinez A, Escalera-Balsera A, Trpchevska N, Robles-Bolivar P, Roman-Naranjo P, Frejo L, Perez-Carpena P, Bulla J, Gallus S, Canlon B, Cederroth CR, Lopez-Escamez JA. Gallego-Martinez A, et al. NPJ Genom Med. 2022 Nov 30;7(1):70. doi: 10.1038/s41525-022-00341-w. NPJ Genom Med. 2022. PMID: 36450758 Free PMC article.

2

Generation of human iPSC line GRX-MCiPS4F-A2 from adult peripheral blood mononuclear cells (PBMCs) with Spanish genetic background.

Cabrera S, Ji AR, Frejo L, Ramos-Mejia V, Romero T, Real P, Lopez-Escamez JA. Cabrera S, et al. Stem Cell Res. 2015 Sep;15(2):337-40. doi: 10.1016/j.scr.2015.07.002. Epub 2015 Jul 23. Stem Cell Res. 2015. PMID: 26284980 Free article.

3

Genetics of vestibular disorders: pathophysiological insights.

Frejo L, Giegling I, Teggi R, Lopez-Escamez JA, Rujescu D. Frejo L, et al. J Neurol. 2016 Apr;263 Suppl 1:S45-53. doi: 10.1007/s00415-015-7988-9. Epub 2016 Apr 15. J Neurol. 2016. PMID: 27083884 Free PMC article. Review.

4

A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.

Martín-Sierra C, Requena T, Frejo L, Price SD, Gallego-Martinez A, Batuecas-Caletrio A, Santos-Pérez S, Soto-Varela A, Lysakowski A, Lopez-Escamez JA. Martín-Sierra C, et al. Hum Mol Genet. 2016 Aug 15;25(16):3407-3415. doi: 10.1093/hmg/ddw183. Epub 2016 Jun 21. Hum Mol Genet. 2016. PMID: 27329761 Free PMC article.

5

Genetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug Development.

Lopez-Escamez JA, Bibas T, Cima RF, Van de Heyning P, Knipper M, Mazurek B, Szczepek AJ, Cederroth CR. Lopez-Escamez JA, et al. Front Neurosci. 2016 Aug 19;10:377. doi: 10.3389/fnins.2016.00377. eCollection 2016. Front Neurosci. 2016. PMID: 27594824 Free PMC article. Review.

6

Clinical Subgroups in Bilateral Meniere Disease.

Frejo L, Soto-Varela A, Santos-Perez S, Aran I, Batuecas-Caletrio A, Perez-Guillen V, Perez-Garrigues H, Fraile J, Martin-Sanz E, Tapia MC, Trinidad G, García-Arumi AM, González-Aguado R, Espinosa-Sanchez JM, Marques P, Perez P, Benitez J, Lopez-Escamez JA. Frejo L, et al. Front Neurol. 2016 Oct 24;7:182. doi: 10.3389/fneur.2016.00182. eCollection 2016. Front Neurol. 2016. PMID: 27822199 Free PMC article.

7

Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort.

Maas IL, Brüggemann P, Requena T, Bulla J, Edvall NK, Hjelmborg JVB, Szczepek AJ, Canlon B, Mazurek B, Lopez-Escamez JA, Cederroth CR. Maas IL, et al. Genet Med. 2017 Sep;19(9):1007-1012. doi: 10.1038/gim.2017.4. Epub 2017 Mar 23. Genet Med. 2017. PMID: 28333916 Free PMC article.

8

A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.

Requena T, Gallego-Martinez A, Lopez-Escamez JA. Requena T, et al. Hum Genomics. 2017 May 22;11(1):11. doi: 10.1186/s40246-017-0107-5. Hum Genomics. 2017. PMID: 28532469 Free PMC article.

9

Genetics of Tinnitus: Time to Biobank Phantom Sounds.

Cederroth CR, Kähler AK, Sullivan PF, Lopez-Escamez JA. Cederroth CR, et al. Front Genet. 2017 Sep 4;8:110. doi: 10.3389/fgene.2017.00110. eCollection 2017. Front Genet. 2017. PMID: 28928766 Free PMC article.

10

Genetics of vestibular syndromes.

Roman-Naranjo P, Gallego-Martinez A, Lopez Escamez JA. Roman-Naranjo P, et al. Curr Opin Neurol. 2018 Feb;31(1):105-110. doi: 10.1097/WCO.0000000000000519. Curr Opin Neurol. 2018. PMID: 29095749 Review.

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