Portal de investigación
Corrección de variantes causantes de enfermedad de Stargardt mediante editores de base de RNA en linfoblastos de pacientes.
Datos básicos
- Protocolo:
- 2023_810_1_ONCE_ANA_PILAR_ESCRIBANO
- EUDRACT:
- NCT:
- Centro:
- IIS LA FE
- Año de incio:
- 2023
- Año de finalización:
- 2024
Documentos
- No hay documentos
Participantes
Grupos
Financiadores - Promotores
Resultados del Ensayo Clínico
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F; (...); Domínguez-González C
Article. 10.1212/NXG.0000000000200138. 2024
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A; (...); Aguilera C
Article. 10.3389/fgene.2024.1352063. 2024
Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?
Perkins, Brian D.; (...); Millan, Jose M.
Editorial Material. 10.3389/fcell.2023.1301279. 2023
Evaluation of machine learning models for the detection of familial predisposition in Meniere's disease
Roman-Naranjo, Pablo; (...); Lopez-Escamez, Antonio
Meeting Abstract. 2024
Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing
Barberan-Martinez, Pilar; (...); Millan, Jose M.
Meeting Abstract. 2024
Long-read sequencing for improving the characterization of rare inherited eye diseases
Rodilla, Cristina; (...); Ayuso, Carmen
Meeting Abstract. 2024
Pilot study for the implementation of newborn screening for spinal muscular atrophy in Valencia
Berzal-Serrano, Alba; (...); Millan, Jose M.
Meeting Abstract. 10.2174/1871530323666230914122955. 2024
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1002/mds.29910. 2024
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet, Beatrice; (...); Kalatzis, Vasiliki
Article. 10.1172/jci.insight.169426. 2023
Uniparental Disomy of chromosome 16 as a cause of Primary Ciliary Dyskinesia
Carretero-Vilarroig, Lidon; (...); Jaijo, Teresa
Meeting Abstract. 2024