Zobrazeno 1 - 10
of 199
pro vyhledávání: '"Jose A. Lopez‐Escamez"'
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-15 (2024)
Abstract Background DNA methylation may have a regulatory role in monogenic sensorineural hearing loss and complex, polygenic phenotypic forms of hearing loss, including age-related hearing impairment or Meniere disease. The purpose of this systemati
Externí odkaz:
https://doaj.org/article/a2e95e13bc774570be9fe9eea72e51ac
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/186a402ed8924215941f44323c254fbd
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Autor:
Alvaro Gallego-Martinez, Alba Escalera-Balsera, Natalia Trpchevska, Paula Robles-Bolivar, Pablo Roman-Naranjo, Lidia Frejo, Patricia Perez-Carpena, Jan Bulla, Silvano Gallus, Barbara Canlon, Christopher R. Cederroth, Jose A. Lopez-Escamez
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)
Abstract Tinnitus is the phantom percept of an internal non-verbal set of noises and tones. It is reported by 15% of the population and it is usually associated with hearing and/or brain disorders. The role of structural variants (SVs) in coding and
Externí odkaz:
https://doaj.org/article/5734f936892f451682d332dfb3663313
Autor:
Stefan Schoisswohl, Berthold Langguth, Martin Schecklmann, Alberto Bernal-Robledano, Benjamin Boecking, Christopher R. Cederroth, Dimitra Chalanouli, Rilana Cima, Sam Denys, Juliane Dettling-Papargyris, Alba Escalera-Balsera, Juan Manuel Espinosa-Sanchez, Alvaro Gallego-Martinez, Efi Giannopoulou, Leyre Hidalgo-Lopez, Michael Hummel, Dimitris Kikidis, Michael Koller, Jose A. Lopez-Escamez, Steven C. Marcrum, Nikolaos Markatos, Juan Martin-Lagos, Maria Martinez-Martinez, Marta Martinez-Martinez, Maria Mata Ferron, Birgit Mazurek, Nicolas Mueller-Locatelli, Patrick Neff, Kevin Oppel, Patricia Perez-Carpena, Paula Robles-Bolivar, Matthias Rose, Tabea Schiele, Axel Schiller, Jorge Simoes, Sabine Stark, Susanne Staudinger, Alexandra Stege, Nicolas Verhaert, Winfried Schlee
Publikováno v:
Trials, Vol 22, Iss 1, Pp 1-16 (2021)
Abstract Background Tinnitus represents a relatively common condition in the global population accompanied by various comorbidities and severe burden in many cases. Nevertheless, there is currently no general treatment or cure, presumable due to the
Externí odkaz:
https://doaj.org/article/bd05377a2f98464d99c1eaf891b52d42
Autor:
Pablo Roman‐Naranjo, Alberto M. Parra‐Perez, Alba Escalera‐Balsera, Andres Soto‐Varela, Alvaro Gallego‐Martinez, Ismael Aran, Nicolas Perez‐Fernandez, David Bächinger, Andreas H. Eckhard, Rocio Gonzalez‐Aguado, Lidia Frejo, Jose A. Lopez‐Escamez
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 6, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/ed8231449a64420dac355f364908ecbf
Publikováno v:
Cells, Vol 12, Iss 7, p 988 (2023)
Genetic sensorineural hearing loss and Meniere disease have been associated with rare variations in the coding and non-coding region of the human genome. Most of these variants were classified as likely pathogenic or variants of unknown significance
Externí odkaz:
https://doaj.org/article/406ab6065fa14a9bab31e553d8571217
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/793a8d43615a440785ce6faa2ba421dd
Autor:
Sana Amanat, Alvaro Gallego-Martinez, Joseph Sollini, Patricia Perez-Carpena, Juan M. Espinosa-Sanchez, Ismael Aran, Andres Soto-Varela, Angel Batuecas‐Caletrio, Barbara Canlon, Patrick May, Christopher R. Cederroth, Jose A. Lopez-Escamez
Publikováno v:
EBioMedicine, Vol 66, Iss , Pp 103309- (2021)
Background: tinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggre
Externí odkaz:
https://doaj.org/article/58690732c34248c7bc2e37b25f94be6d
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Background: Vestibular migraine (VM) is complex disorder consisting of episodes of migraine and vertigo with an estimated prevalence of 1–3%. As migraine, it is considered that VM has genetic predisposition; however, evidence to support a genetic c
Externí odkaz:
https://doaj.org/article/5fdea5680499401fb478210225bc0f0c
Autor:
Roberto Teggi, Bruno Colombo, Roberto Albera, Giacinto Asprella Libonati, Cristiano Balzanelli, Angel Batuecas Caletrio, Augusto P. Casani, Juan Manuel Espinosa-Sanchez, Paolo Gamba, Jose A. Lopez-Escamez, Sergio Lucisano, Marco Mandalà, Giampiero Neri, Daniele Nuti, Rudi Pecci, Antonio Russo, Eduardo Martin-Sanz, Ricardo Sanz, Gioacchino Tedeschi, Paola Torelli, Paolo Vannucchi, Giancarlo Comi, Mario Bussi
Publikováno v:
Frontiers in Neurology, Vol 10 (2020)
Externí odkaz:
https://doaj.org/article/1cf479e48d174e9dbc9887683619f6c4