Portal de investigación
IMPACT. Medicina Genómica
Datos básicos
- Protocolo:
- IMP/00009
- EUDRACT:
- NCT:
- Centro:
- Año de incio:
- 2021
- Año de finalización:
- 2023
Objetivos del proyecto
GESTIÓN EXTERNA
Documentos
- No hay documentos
Participantes
Grupos
Resultados del Ensayo Clínico
CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa
Kalatzis, Vasiliki; (...); Perron, Muriel
Meeting Abstract. 2023
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J; (...); Lapunzina P
Article. 10.1111/cge.14113. 2022
Concomitant mutations in inherited retinal dystrophies: why the reproductive and therapeutic counselling should be addressed cautiously.
Rodriguez-Munoz, Ana; (...); Millan, Jose
Article. 10.1097/IAE.0000000000003103. 2021
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.
Gomez-Escribano, Ana P.; (...); Vazquez-Manrique, Rafael P.
Article. 10.15252/embr.202255556. 2023
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Perez, Laura; (...); Tizzano, Eduardo F.
Article. 10.3390/ijms23158289. 2022
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1212/NXG.0000000000200038. 2022
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
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Munoz, Ana; (...); Garcia-Garcia, Gema
Article. 10.1038/s41598-021-03925-1. 2022
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
del Carmen Ortuno-Costela, Maria; (...); Esther Gallardo, Maria
Article. 10.3390/ijms232213964. 2022
Genetic Testing for Rare Diseases
Millan, Jose M., Garcia-Garcia, Gema
Article. 10.3390/diagnostics12040809. 2022
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
Stemerdink M; (...); Millan JM
Article. 10.1007/s00439-021-02324-w. 2021
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L; (...); Ayuso C
Article. 10.1111/aos.14795. 2021
Metformin to treat Huntington disease: a pleiotropic drug against a multi-system disorder.
Trujillo-Del Río C; (...); Vázquez-Manrique RP
Article. 10.1016/j.mad.2022.111670. 2022
miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks
Raga-Cervera, J; (...); Zanon-Moreno, V
Article. 10.3390/jcm10112227. 2021
MODELING OF IDH2 GENE MUTATIONS IN THE CAENORHABDITIS ELEGANS ORGANISM. DEVELOPMENT OF A NEW STUDY MODEL
Gonzalez-Romero, E.; (...); Cervera-Zamora, J.
Meeting Abstract. 2021
NUTRARET: Effect of 2-Year Nutraceutical Supplementation on Redox Status and Visual Function of Patients With Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Trial
Olivares-Gonzalez, Lorena; (...); Rodrigo, Regina
Article. 10.3389/fnut.2022.847910. 2022
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Bea-Mascato B; (...); Valverde D
Article. 10.3390/genes12020282. 2021
Redox Status in Retinitis Pigmentosa.
Olivares-González L; (...); Rodrigo R
Article. 10.1007/978-3-031-27681-1_65. 2023
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Baviera-Munoz, Raquel; (...); Bataller, Luis
Article. 10.1002/mdc3.13740. 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet, Beatrice; (...); Kalatzis, Vasiliki
Article. 10.1172/jci.insight.169426. 2023
Updating the Genetic Landscape of Inherited Retinal Dystrophies
Bohorquez, Belen Garcia; (...); Millán JM
Article. 10.3389/fcell.2021.645600. 2021
Usher Syndrome: Genetics of a Human Ciliopathy
Fuster-García C; (...); García-García G
Review. 10.3390/ijms22136723. 2021