Lopez-Escamez JA - Search Results

1

Genetic Inheritance and Its Contribution to Tinnitus.

Amanat S, Gallego-Martinez A, Lopez-Escamez JA. Amanat S, et al. Curr Top Behav Neurosci. 2021;51:29-47. doi: 10.1007/7854_2020_155. Curr Top Behav Neurosci. 2021. PMID: 32705497 Review.

2

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.

3

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.

4

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.

5

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.

6

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.

7

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.

8

Bioinformatic Integration of Molecular Networks and Major Pathways Involved in Mice Cochlear and Vestibular Supporting Cells.

Requena T, Gallego-Martinez A, Lopez-Escamez JA. Requena T, et al. Front Mol Neurosci. 2018 Apr 5;11:108. doi: 10.3389/fnmol.2018.00108. eCollection 2018. Front Mol Neurosci. 2018. PMID: 29674954 Free PMC article.

9

Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research.

Szczepek AJ, Frejo L, Vona B, Trpchevska N, Cederroth CR, Caria H, Lopez-Escamez JA. Szczepek AJ, et al. Ear Hear. 2019 Mar/Apr;40(2):219-226. doi: 10.1097/AUD.0000000000000614. Ear Hear. 2019. PMID: 29889665 Free PMC article.

10

Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease.

Gallego-Martinez A, Requena T, Roman-Naranjo P, Lopez-Escamez JA. Gallego-Martinez A, et al. Front Genet. 2019 Feb 15;10:76. doi: 10.3389/fgene.2019.00076. eCollection 2019. Front Genet. 2019. PMID: 30828346 Free PMC article.

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