Lopez-Escamez JA - Search Results

1

Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease.

Escalera-Balsera A, Parra-Perez AM, Gallego-Martinez A, Frejo L, Martin-Lagos J, Rivero de Jesus V, Pérez-Vázquez P, Perez-Carpena P, Lopez-Escamez JA. Escalera-Balsera A, et al. Genes (Basel). 2023 Dec 22;15(1):22. doi: 10.3390/genes15010022. Genes (Basel). 2023. PMID: 38254912 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

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.

6

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.

7

Practice Guidelines for the Diagnosis and Management of Benign Paroxysmal Positional Vertigo Otoneurology Committee of Spanish Otorhinolaryngology and Head and Neck Surgery Consensus Document.

Pérez-Vázquez P, Franco-Gutiérrez V, Soto-Varela A, Amor-Dorado JC, Martín-Sanz E, Oliva-Domínguez M, Lopez-Escamez JA. Pérez-Vázquez P, et al. Acta Otorrinolaringol Esp (Engl Ed). 2018 Nov-Dec;69(6):345-366. doi: 10.1016/j.otorri.2017.05.001. Epub 2017 Aug 19. Acta Otorrinolaringol Esp (Engl Ed). 2018. PMID: 28826856 English, Spanish.

8

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.

9

Regulation of Fn14 Receptor and NF-κB Underlies Inflammation in Meniere's Disease.

Frejo L, Requena T, Okawa S, Gallego-Martinez A, Martinez-Bueno M, Aran I, Batuecas-Caletrio A, Benitez-Rosario J, Espinosa-Sanchez JM, Fraile-Rodrigo JJ, García-Arumi AM, González-Aguado R, Marques P, Martin-Sanz E, Perez-Fernandez N, Pérez-Vázquez P, Perez-Garrigues H, Santos-Perez S, Soto-Varela A, Tapia MC, Trinidad-Ruiz G, Del Sol A, Alarcon Riquelme ME, Lopez-Escamez JA. Frejo L, et al. Front Immunol. 2017 Dec 13;8:1739. doi: 10.3389/fimmu.2017.01739. eCollection 2017. Front Immunol. 2017. PMID: 29326686 Free PMC article.

10

Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.

Ahmad H, Requena T, Frejo L, Cobo M, Gallego-Martinez A, Martin F, Lopez-Escamez JA, Bronstein AM. Ahmad H, et al. Front Genet. 2018 Mar 23;9:85. doi: 10.3389/fgene.2018.00085. eCollection 2018. Front Genet. 2018. PMID: 29628936 Free PMC article.

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