Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Elena, Aller"'
Autor:
Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102374- (2024)
Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) t
Externí odkaz:
https://doaj.org/article/a17a668f163e49dea766892e88041dc8
Autor:
Daniel Borrego-Hernández, Juan Francisco Vázquez-Costa, Raúl Domínguez-Rubio, Laura Expósito-Blázquez, Elena Aller, Ariadna Padró-Miquel, Pilar García-Casanova, María J. Colomina, Cristina Martín-Arriscado, Rosario Osta, Pilar Cordero-Vázquez, Jesús Esteban-Pérez, Mónica Povedano-Panadés, Alberto García-Redondo
Publikováno v:
Biomedicines, Vol 12, Iss 2, p 356 (2024)
Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS, but little is known about their role in FTD risk. Moreover, their contribution to the risk and phenotype of patients might vary in populations with different ge
Externí odkaz:
https://doaj.org/article/6e52c9e0d7754724821309829d1f7d65
Autor:
Ana Rodriguez-Muñoz, Alessandro Liquori, Belén García-Bohorquez, Teresa Jaijo, Elena Aller, José M. Millán, Gema García-García
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Inherited retinal dystrophies are a group of disorders characterized by the progressive degeneration of photoreceptors leading to loss of the visual function and eventually to legal blindness. Although next generation sequencing (NGS) has re
Externí odkaz:
https://doaj.org/article/013ec3b6a26547d8b1bd848274d6933b
Autor:
Belén García Bohórquez, Elena Aller, Ana Rodríguez Muñoz, Teresa Jaijo, Gema García García, José M. Millán
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosi
Externí odkaz:
https://doaj.org/article/37aaab902e9d4f8ea36f8e06bd957726
Autor:
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D. Sequedo, Carmen Ayuso, Rafael P. Vázquez-Manrique, José M. Millán, Elena Aller
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 8, Iss , Pp 529-541 (2017)
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recur
Externí odkaz:
https://doaj.org/article/f43fca243fef4f4a9973a953b7c526c3
Autor:
Elayne E. Santana, Carla Fuster-García, Elena Aller, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, José M. Millán, Araceli Lantigua
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
BackgroundUsher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in E
Externí odkaz:
https://doaj.org/article/b50ca84a61264bb4bcb1a22564902727
Autor:
Raquel Baviera‐Muñoz, Lidón Carretero‐Vilarroig, Nuria Muelas, Rafael Sivera, Pablo Sopena‐Novales, Begoña Martínez‐Sanchis, Isabel Sastre‐Bataller, Marina Campins‐Romeu, Irene Martínez‐Torres, Jose Manuel García‐Verdugo, Jose M. Millán, Teresa Jaijo, Elena Aller, Luis Bataller
Publikováno v:
Movement Disorders Clinical Practice.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee635d34fab223c4550402872256d3ca
https://doi.org/10.1002/mdc3.13740
https://doi.org/10.1002/mdc3.13740
Autor:
Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0207296 (2018)
Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most freque
Externí odkaz:
https://doaj.org/article/4521699476574d809db35ed2954977bd
Autor:
Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso
Publikováno v:
PLoS ONE, Vol 13, Iss 6, p e0199048 (2018)
INTRODUCTION:Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). One of the most frequent variants identified in this gene and among these patients is the p.(Cys759Phe) change.
Externí odkaz:
https://doaj.org/article/a9a6c6670c604daeaafc89447b5fa6dc
Autor:
Laura, Blasco-Pérez, Mar, Costa-Roger, Jordi, Leno-Colorado, Sara, Bernal, Laura, Alias, Marta, Codina-Solà, Desirée, Martínez-Cruz, Claudia, Castiglioni, Enrico, Bertini, Lorena, Travaglini, José M, Millán, Elena, Aller, Javier, Sotoca, Raúl, Juntas, Christina Engel, Hoei-Hansen, Antonio, Moreno-Escribano, Encarna, Guillén-Navarro, Laura, Costa-Comellas, Francina, Munell, Susana, Boronat, Ricardo, Rojas-García, Mónica, Povedano, Ivon, Cuscó, Eduardo F, Tizzano
Publikováno v:
International journal of molecular sciences. 23(15)
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d381ab938f0fd2ef1659addc414b7aa6
https://pubmed.ncbi.nlm.nih.gov/35955418
https://pubmed.ncbi.nlm.nih.gov/35955418