Maria F. Di Feo
Genoa, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants.
Journal: Seizure
Published: May 11, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy.
Journal: European journal of neurology
Published: October 18, 2025
A comprehensive framework for the interpretation of TTN missense variants.
Journal: Genome medicine
Published: July 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
Journal: European journal of neurology
Published: May 02, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 17, 2024
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 17, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Journal: Annals of clinical and translational neurology
Published: July 23, 2024
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort.
Journal: Journal of medical genetics
Published: June 28, 2024
Congenital Nasal Bones Agenesis: Report of a Rare Malformation.
Journal: Case reports in medicine
Published: April 03, 2024
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Journal: American journal of medical genetics. Part A
Published: October 16, 2023
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Journal: Journal of medical genetics
Published: October 31, 2022
Last Updated: 09/26/2026