TY  - JOUR
AU  - Garcia-Delgado, Ana B.
AU  - Valdes-Sanchez, Lourdes
AU  - Morillo-Sanchez, Maria Jose
AU  - Ponte-Zuñiga, Beatriz
AU  - Diaz-Corrales, Francisco J.
AU  - de la Cerda, Berta
PY  - 2021
DO  - 10.1186/s13023-021-01843-z
UR  - http://hdl.handle.net/10668/4094
T2  - Orphanet Journal of Rare Diseases
AB  - Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gene...
LA  - en
PB  - BMC, Springer Nature
KW  - Retinal dystrophy
KW  - EYS
KW  - Ciliopathy
KW  - Animal models
KW  - Advanced therapies
KW  - Mutations
KW  - Retinal degeneration
KW  - Retinitis pigmentosa
KW  - Distrofias retinianas
KW  - Ciliopatías
KW  - Modelos animales
KW  - Mutación
KW  - Degeneración retiniana
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Ophthalmological::Electroretinography
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Eye Proteins
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration
KW  - Medical Subject Headings::Diseases::Eye Diseases::Eye Diseases, Hereditary::Retinitis Pigmentosa
KW  - Medical Subject Headings::Psychiatry and Psychology::Psychological Phenomena and Processes::Mental Processes::Cognition::Comprehension
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
KW  - Medical Subject Headings::Anatomy::Sense Organs::Eye::Retina
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Animal
TI  - Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy
TY  - review article
ER  -