Portal de investigación
New DX243-conjugated nanoparticles as a neuroprotective drug for hearing disorders.
Datos básicos
- Código:
- AC21_2/00022
- Protocolo:
- AC21_2/00022
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Dotación:
- 119.790,00 €
- Año de incio:
- 2022
- Año de finalización:
- 2025
Documentos
- No hay documentos
Participantes
Grupos
Financiadores - Promotores
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
Association between upper and lower respiratory disease among patients with primary ciliary dyskinesia: an international study.
Lam, Yin Ting; (...); Goutaki, Myrofora
Article. 10.1183/23120541.00932-2023. 2024
Association between upper and lower respiratory disease in primary ciliary dyskinesia
Lam, Yin Ting; (...); Goutaki, Myrofora
Meeting Abstract. 10.1183/13993003.congress-2023.PA2765. 2023
Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?
Blanco-Máñez R; (...); Vera-Sempere F
Article. 10.3390/diagnostics12010129. 2022
Cavernous Sinus Thrombosis Secondary to Streptococcus Constellatus Pharynges
Jaramillo-Angel, Natalia; (...); Carceller, Miguel Armengot
Article. 10.1007/s12070-024-04511-3. 2024
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J; (...); Lapunzina P
Article. 10.1111/cge.14113. 2022
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F; (...); Domínguez-González C
Article. 10.1212/NXG.0000000000200138. 2024
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas, Nuria; (...); Vilchez, Juan J
Article. 10.1007/s00415-024-12821-3. 2025
Consensus definition of sinonasal and otologic exacerbation in patients with primary ciliary dyskinesia
Goutaki, Myrofora; (...); Papon, Jean-Francois
Meeting Abstract. 10.1183/13993003.congress-2024.OA1989. 2024
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
Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.
Goutaki, Myrofora; (...); Papon, Jean-Francois
Article. 10.1001/jamaoto.2023.0841. 2023
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A; (...); Aguilera C
Article. 10.3389/fgene.2024.1352063. 2024
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
Definition of sinonasal and otological exacerbation in patients with primary ciliary dyskinesia: an expert consensus.
Goutaki, Myrofora; (...); Papon, Jean-Francois
Article. 10.1183/23120541.00218-2024. 2024
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Poyatos-Garcia, Javier; (...); Vilchez, Juan J
Article. 10.1186/s13395-024-00353-3. 2024
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
Dizziness Evaluation and Characterisation of Patients with Posterior Circulation Stroke in the Emergency De- partment; a Case Series Study
Saro-Buendia, Miguel; (...); Armengot Carceller, Miguel
Article. 10.22037/aaem.v11i1.1764. 2023
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 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
Evaluation of machine learning models for the detection of familial predisposition in Meniere's disease
Roman-Naranjo, Pablo; (...); Lopez-Escamez, Antonio
Meeting Abstract. 2024
Evolución de la incidencia de las enfermedades infecciosas del área ORL en edad pediátrica durante la pandemia COVID-19.
Torres-García L; (...); Carceller MA
Article. 10.1016/j.otorri.2022.07.005. 2023
Evolution in the incidence of infectious diseases in the pediatric ENT area during the COVID-19 pandemic.
Torres-Garcia, Lidia; (...); Carceller MA
Article. 10.1016/j.otoeng.2022.11.007. 2022
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Garcia-Bohorquez, Belen; (...); Millan, Jose M
Article. 10.1016/j.omtn.2024.102374. 2024
Fallopian Canal Meningocele Causing Cerebrospinal Fluid Rhinorrhoea
Saro-Buendia, Miguel; (...); Carceller, Miguel Armengot
Article. 10.1007/s12070-023-03963-3. 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 diagnostic of inherited retinal dystrophies through clinical exome sequencing
Barberan-Martinez, Pilar; (...); Millan, Jose M.
Meeting Abstract. 2024
Genetic Testing for Rare Diseases
Millan, Jose M., Garcia-Garcia, Gema
Article. 10.3390/diagnostics12040809. 2022
Giant Solitary Sinonasal Enchondroma: A Rare Case Report.
Almanzo S; (...); Armengot Carceller M
Article. 10.1007/s12070-024-04620-z. 2024
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Borrego-Hernandez, Daniel; (...); Garcia-Redondo, Alberto
Article. 10.3390/biomedicines12020356. 2024
Labyrinthine Bifurcation of the Facial Nerve
Saro-Buendia, Miguel; (...); Carceller, Miguel Armengot
Article. 10.1007/s12070-023-03977-x. 2023
Lack of Correlation of Sinonasal and Otologic Reported Symptoms With Objective Measurements Among Patients With Primary Ciliary Dyskinesia: An International Study.
Lam YT; (...); Goutaki M
Article. 10.21053/ceo.2023.01130. 2023
Langerhans cell histiocytosis of the head and neck in the pediatric population in a tertiary center: Clinical presentation, classification and treatment.
García Díaz MP; (...); Carceller, Miguel Armengot
Article. 10.1016/j.ijporl.2022.111073. 2022
Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans
Tortajada-Perez, Julia; (...); Vazquez-Manrique, Rafael Pascual
Review. 10.3390/antiox14010078. 2025
Long-read sequencing for improving the characterization of rare inherited eye diseases
Rodilla, Cristina; (...); Ayuso, Carmen
Meeting Abstract. 2024
Management of iodine contrast induced salivary gland swelling (sialadenitis): experiences from an observational study.
Saro-Buendía M; (...); Armengot Carceller M
Article. 10.1080/00016489.2022.2162121. 2023
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
Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis.
Garcia-Llorens, Guillem; (...); Bort, Roque
Article. 10.3390/jpm12071111. 2022
Molecular and Clinical Predictors of Quality of Life in Chronic Rhinosinusitis with Nasal Polyps.
Brunet, Aina; (...); Armengot, Miguel
Article. 10.3390/jcm12041391. 2023
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
Odontogenic maxillary sinusitis and fungus ball development secondary to a dental root retained for more than 25 years. A case report.
Borrás-Ferreres J, Armengot-Carceller M, Gay-Escoda C
Case Reports. 10.4317/jced.59663. 2022
Otologic features in patients with Primary Ciliary Dyskinesia - an EPIC-PCD study
Goutaki, M.; (...); Papon, J-F
Meeting Abstract. 10.1055/s-0042-1754486. 2022
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Berzal-Serrano, Alba; (...); Millan, Jose M
Article. 10.3390/ijns11010007. 2025
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
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
Posterior Lingual Abscess; Report of Two Cases.
Saro-Buendia, Miguel; (...); Armengot Carceller, Miguel
Case Reports. 10.22037/aaem.v11i1.1860. 2023
Redox Imbalance in Nasal Epithelial Cells of Primary Ciliary Dyskinesia Patients.
Reula, Ana; (...); Dasi, Francisco
Article. 10.3390/antiox13020190. 2024
Redox Status in Retinitis Pigmentosa.
Olivares-González L; (...); Rodrigo R
Article. 10.1007/978-3-031-27681-1_65. 2023
Severe Hypoplasia of Paranasal Sinuses and Turbinates.
Saro-Buendia, Miguel, Gomez-Gomez, Maria Jose, Armengot-Carceller, Miguel
Article. 10.1001/jamaoto.2024.0674. 2024
Shift in the profile and prognostic implications in invasive fungal rhinosinusitis: experience of 10 years in a tertiary center
Mellidez-Acosta, Raul; (...); Garcia-Pinero, Alfonso
Article. 10.1186/s43163-024-00750-x. 2025
Sinonasal disease among patients with primary ciliary dyskinesia: an international study.
Lam YT; (...); Goutaki M
Article. 10.1183/23120541.00701-2022. 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
Stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI syndrome).
Saro-Buendia, M; (...); Armengot-Carceller, M
Article. 10.1016/j.anorl.2024.11.008. 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
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.
Raidt, Johanna; (...); Nielsen, Kim G.
Article. 10.1183/23120541.00139-2022. 2022
Uniparental Disomy of chromosome 16 as a cause of Primary Ciliary Dyskinesia
Carretero-Vilarroig, Lidon; (...); Jaijo, Teresa
Meeting Abstract. 2024
When the Nose Meets the Lab: Histopathological Analysis in Chronic Rhinosinusitis with Nasal Polyps for Routine Clinical Practice.
Alobid, Isam; (...); Mullol, Joaquim
Article. 10.1007/s11882-024-01180-8. 2024