Pascale Mazzola
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 23 publications
Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.
Journal: Ophthalmic genetics
Published: July 27, 2026
Drug targeting of the monocarboxylate transporter MCT4 is a novel treatment strategy for metastatic ccRCC.
Journal: Pharmacological research
Published: September 23, 2025
Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec.
Journal: Translational vision science & technology
Published: August 04, 2025
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.
Journal: BMC ophthalmology
Published: January 21, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Journal: American journal of human genetics
Published: September 12, 2024
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.
Journal: American journal of ophthalmology
Published: November 19, 2023
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Journal: Scientific reports
Published: September 27, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Journal: Journal of medical genetics
Published: June 20, 2023
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.
Journal: Molecular genetics & genomic medicine
Published: September 02, 2022
Hepatic Expression of the Na+-Taurocholate Cotransporting Polypeptide Is Independent from Genetic Variation.
Journal: International journal of molecular sciences
Published: June 10, 2022
Last Updated: 09/26/2026