Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Alba Escalera-Balsera"'
Autor:
Jorge Piano Simoes, Stefan Schoisswohl, Winfried Schlee, Laura Basso, Alberto Bernal-Robledano, Benjamin Boecking, Rilana Cima, Sam Denys, Milena Engelke, Alba Escalera-Balsera, Alvaro Gallego-Martinez, Silvano Gallus, Dimitris Kikidis, Jose A. López-Escámez, Steven C. Marcrum, Nikolaos Markatos, Juan Martin-Lagos, Marta Martinez-Martinez, Birgit Mazurek, Evgenia Vassou, Carlotta Micaela Jarach, Nicolas Mueller-Locatelli, Patrick Neff, Uli Niemann, Hafez Kader Omar, Clara Puga, Miro Schleicher, Vishnu Unnikrishnan, Patricia Perez-Carpena, Rüdiger Pryss, Paula Robles-Bolivar, Matthias Rose, Martin Schecklmann, Tabea Schiele, Johannes Schobel, Myra Spiliopoulou, Sabine Stark, Carsten Vogel, Nina Wunder, Zoi Zachou, Berthold Langguth
Publikováno v:
Trials, Vol 24, Iss 1, Pp 1-13 (2023)
Abstract Background Tinnitus is a leading cause of disease burden globally. Several therapeutic strategies are recommended in guidelines for the reduction of tinnitus distress; however, little is known about the potentially increased effectiveness of
Externí odkaz:
https://doaj.org/article/4c37d8da6c694196b01b2c986bd96268
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
Autor:
Paula Robles-Bolivar, David Bächinger, Alberto M. Parra-Perez, Pablo Román-Naranjo, Alba Escalera-Balsera, Alvaro Gallego-Martinez, Andreas H. Eckhard, Jose A. Lopez-Escamez
Publikováno v:
European Journal of Human Genetics. 30:1301-1305
Low-frequency sensorineural hearing loss (SNHL) is a rare hearing impairment affecting frequencies below 1000 Hz, previously associated with DIAPH1, WSF1, MYO7A, TNC, SLC26A4 or CCDC50 genes. By exome sequencing, we report a novel nonsense variant in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2272b9098dcb2982b727a921d073c2da
https://doi.org/10.1038/s41431-022-01184-w
https://doi.org/10.1038/s41431-022-01184-w
Autor:
Marisa Flook, Alba Escalera-Balsera, Alvaro Gallego-Martinez, Juan Manuel Espinosa-Sanchez, Ismael Aran, Andres Soto-Varela, Jose Antonio Lopez-Escamez
Publikováno v:
Biomedicines, Vol 9, Iss 11, p 1530 (2021)
Meniere Disease (MD) is a multifactorial disorder of the inner ear characterized by vertigo attacks associated with sensorineural hearing loss and tinnitus with a significant heritability. Although MD has been associated with several genes, no epigen
Externí odkaz:
https://doaj.org/article/777206b1fe334c8e8ef0e718c699ba9f
Autor:
Jorge Simoes, Stefan Schoisswohl, Winfried Schlee, Laura Basso, Alberto Bernal-Robledano, Benjamin Boecking, Rilana Cima, Sam Denys, Milena Engelke, Alba Escalera-Balsera, Alvaro Gallego-Martinez, Silvano Gallus, Dimitris Kikidis, Jose Antonio López Escámez, Steven C. Marcrum, Nikolaos Markatos, Juan Martin-Lagos, Marta Martinez-Martinez, Birgit Mazurek, Evgenia Vassou, Carlotta Micaela Jarach, Nicolas Mueller-Locatelli, Patrick Neff, Uli Niemann, Hafez Kader Omar, Clara Puga, Miro Schleicher, Vishnu Unnikrishnan, Patricia Perez-Carpena, Rüdiger Pryss, Paula Robles-Bolivar, Matthias Rose, Martin Schecklmann, Tabea Schiele, Johannes Schobel, Myra Spiliopoulou, Sabine Stark, Carsten Vogel, Nina Wunder, Zoi Zachou, Berthold Langguth
Background Tinnitus is a leading cause of disease burden globally. Several therapeutic strategies are recommended in guidelines for the reduction of tinnitus distress; however, little is known about the potential increased effectiveness of a combinat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f912730bcaf71c1e4b07cf34e4d4c885
https://doi.org/10.21203/rs.3.rs-2123725/v1
https://doi.org/10.21203/rs.3.rs-2123725/v1
Autor:
Clara Puga, Uli Niemann, Alba Escalera-Balsera, Laura Basso, Jorge Simoes, Jose Antonio Antonio Lopez Escamez, Winfried Schlee, Berthold Langguth, Birgit Mazurek, Myra Spiliopoulou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3e2599b390582b257b782debb50faee
https://doi.org/10.2139/ssrn.4345454
https://doi.org/10.2139/ssrn.4345454
Autor:
Marisa Flook, Alba Escalera-Balsera, Paulina Rybakowska, Lidia Frejo, Angel Batuecas-Caletrio, Juan Carlos Amor-Dorado, Andres Soto-Varela, Marta Alarcón-Riquelme, Jose Antonio Lopez-Escamez
Background Meniere Disease (MD) is an inner ear syndrome, characterized by sensorineural hearing loss associated with episodes of vertigo, tinnitus, and aural fullness. The pathological mechanism leading to sporadic MD is still poorly understood, how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9bbb04d1802cdda3ef55fbde10b92358
https://doi.org/10.21203/rs.3.rs-2210600/v1
https://doi.org/10.21203/rs.3.rs-2210600/v1
Autor:
Pablo Román-Naranjo, Alberto M. Parra-Perez, Alba Escalera-Balsera, Andrés Soto-Varela, Alvaro Gallego-Martinez, Ismael Aran, Nicolas Perez-Fernandez, David Bächinger, Andreas H. Eckhard, Rocio Gonzalez-Aguado, Lidia Frejo, Jose A. Lopez-Escamez
BackgroundMeniere’s disease (MD) is an inner ear disease defined by episodes of vertigo associated with sensorineural hearing loss initially affecting low- to medium frequencies, tinnitus, and aural fullness. Familial aggregation has been reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23c4e8a83f19cb814d9390a56ddf1345
https://doi.org/10.1101/2022.02.18.22270926
https://doi.org/10.1101/2022.02.18.22270926