Enrico Ambrosini
Parma, Italy
Last Updated: 09/26/2026
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Found 25 publications
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.
Journal: Research square
Published: July 17, 2026
Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site MAOA Variant and Case-Based Review.
Journal: International journal of molecular sciences
Published: June 05, 2026
Clinical and molecular features of PRCD-associated retinopathy.
Journal: Acta ophthalmologica
Published: May 07, 2026
Benign Neoplasms in Biallelic Nth-Like DNA Glycosylase 1-Associated Tumor Syndrome: Expanding the Clinical Phenotype.
Journal: ACG case reports journal
Published: January 20, 2026
Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.
Journal: Gene
Published: December 01, 2025
The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.
Journal: Cancers
Published: November 03, 2025
Arrhythmogenic Cardiomyopathy and Biomarkers: A Promising Perspective?
Journal: Journal of clinical medicine
Published: July 25, 2025
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Journal: Genes
Published: April 30, 2025
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Journal: International journal of molecular sciences
Published: August 20, 2024
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.
Journal: Journal of community genetics
Published: July 24, 2024
Familial DMRT1-related non-obstructive azoospermia: a case report.
Journal: Journal of assisted reproduction and genetics
Published: July 13, 2024
Last Updated: 09/26/2026