Emiliano Giardina

Ardeatina Street, 306
Rome, 00142, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 159 publications

Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.

Expanding the Clinical and Mutational Spectrum of FBXO7-Related Parkinsonism: A Novel Italian Family and Comprehensive Literature Review.

Journal: Genes

Published: May 27, 2026

Long-read sequencing and the evolving landscape of facioscapulohumeral muscular dystrophy diagnosis.

Long-read sequencing and the evolving landscape of facioscapulohumeral muscular dystrophy diagnosis.

Journal: Brain : a journal of neurology

Published: March 26, 2026

Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework.

Bridging past and future: the evolution of genetic diagnosis in FSHD and the role of emerging technologies in a globalized framework.

Journal: Neuromuscular disorders : NMD

Published: February 06, 2026

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.

Journal: Cell death & disease

Published: September 30, 2025

Patients and donors trust in data authorization for AI-based medical research.

Patients and donors trust in data authorization for AI-based medical research.

Journal: Scientific reports

Published: September 30, 2025

Pharmacogenetics or predictive genetics? APOE testing blurs the lines.

Pharmacogenetics or predictive genetics? APOE testing blurs the lines.

Journal: Frontiers in pharmacology

Published: May 12, 2025

BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant.

BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant.

Journal: Cancers

Published: May 12, 2025

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants.

Journal: Biomedicines

Published: April 28, 2025

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

New variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.

Journal: Journal of medical genetics

Published: March 25, 2025

A variant of the autophagic receptor NDP52 counteracts phospho-TAU accumulation and emerges as a protective factor for Alzheimer's disease.

A variant of the autophagic receptor NDP52 counteracts phospho-TAU accumulation and emerges as a protective factor for Alzheimer's disease.

Journal: Cell death & disease

Published: December 31, 2024

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.

Journal: Clinical genetics

Published: December 18, 2024

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Journal: Genes

Published: December 03, 2024

Showing 1-12 of 159

Last Updated: 09/26/2026