ÁLVARO
GALLEGO MARTÍNEZ
DOCENTE INVITADO
José Antonio
López Escámez
Publikationen, an denen er mitarbeitet José Antonio López Escámez (32)
2024
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A Systematic Review on the Genetic Contribution to Tinnitus
JARO - Journal of the Association for Research in Otolaryngology, Vol. 25, Núm. 1, pp. 13-33
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An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population
Human Genetics, Vol. 143, Núm. 3, pp. 423-435
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Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease
Genes and Immunity, Vol. 25, Núm. 2, pp. 124-131
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Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease
Genes, Vol. 15, Núm. 1
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease
Cells, Vol. 12, Núm. 7
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The statistical analysis plan for the unification of treatments and interventions for tinnitus patients randomized clinical trial (UNITI-RCT)
Trials, Vol. 24, Núm. 1
2022
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A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss
European Journal of Human Genetics, Vol. 30, Núm. 11, pp. 1301-1305
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Defective α‐tectorin may involve tectorial membrane in familial Meniere disease
Clinical and Translational Medicine
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Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
npj Genomic Medicine, Vol. 7, Núm. 1
2021
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Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study
EBioMedicine, Vol. 66
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137
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Dna methylation signature in mononuclear cells and proinflammatory cytokines may define molecular subtypes in sporadic meniere disease
Biomedicines, Vol. 9, Núm. 11
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Genetic Inheritance and Its Contribution to Tinnitus
Current Topics in Behavioral Neurosciences (Springer Science and Business Media Deutschland GmbH), pp. 29-47
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Identification of Potential Meniere's Disease Targets in the Adult Stria Vascularis
Frontiers in Neurology, Vol. 12
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Towards a unification of treatments and interventions for tinnitus patients: The EU research and innovation action UNITI
Progress in Brain Research (Elsevier B.V.), pp. 441-451
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Unification of Treatments and Interventions for Tinnitus Patients (UNITI): a study protocol for a multi-center randomized clinical trial
Trials, Vol. 22, Núm. 1
2020
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Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease
Ear and Hearing, Vol. 41, Núm. 6, pp. 1598-1605
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Clinical and molecular genetics of Meniere disease
Medizinische Genetik, Vol. 32, Núm. 2, pp. 141-148
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Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere's disease
Journal of Medical Genetics, Vol. 57, Núm. 2, pp. 82-88