Fernando Larcher
机构:Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Unidades Centrales Científico-Técnicas, Hospital Universitario Fundación Jiménez Díaz, Instituto de Investigación de Enfermedades Raras, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Universidad Carlos III de Madrid, Universidad Autónoma de Madrid · ORCID:0000-0002-6771-3561
发表论文 188 篇 · 总被引 6170 次 · h-index 46
代表论文
- Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa (2022 · Molecular Therapy · 被引 23)
- Mechanistic interrogation of mutation-independent disease modulators of RDEB identifies the small leucine-rich proteoglycan PRELP as a TGF-β antagonist and inhibitor of fibrosis (2022 · Matrix Biology · 被引 22)
- Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa by in vivo CRISPR-Cas9 delivery using adenoviral vectors (2022 · Molecular Therapy — Methods & Clinical Development · 被引 21)
- Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants (2022 · JAMA Dermatology · 被引 17)
- FPR2 DNA Aptamers for Targeted Therapy of Wound Repair (2022 · Journal of Investigative Dermatology · 被引 11)
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa (2021 · Journal of Investigative Dermatology · 被引 7)