Claudia Strafella

Montpelier Street, 1
Rome, 00133, Italy

Last Updated: 09/26/2026

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Found 64 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

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

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

Federated Learning: Breaking Down Barriers in Global Genomic Research.

Federated Learning: Breaking Down Barriers in Global Genomic Research.

Journal: Genes

Published: December 02, 2024

Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.

Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring.

Journal: Diagnostics (Basel, Switzerland)

Published: November 27, 2024

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Journal: Genes

Published: August 01, 2024

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.

Journal: International journal of molecular sciences

Published: July 31, 2024

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Journal: Clinical epigenetics

Published: June 18, 2024

Showing 1-12 of 64

Last Updated: 09/26/2026