Cristina Sancricca

Rome, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Journal: Journal of neurology

Published: March 03, 2025

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.

Journal: Neurology

Published: August 05, 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

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Journal: Brain : a journal of neurology

Published: July 08, 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

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Journal: Clinical genetics

Published: October 04, 2023

Inflammatory profile in mitochondrial diseases: A cohort study.

Inflammatory profile in mitochondrial diseases: A cohort study.

Journal: European journal of neurology

Published: June 03, 2023

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Journal: Current issues in molecular biology

Published: March 02, 2023

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Journal: Journal of neurology

Published: February 16, 2023

Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.

Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: October 26, 2022

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

Journal: Orphanet journal of rare diseases

Published: September 15, 2022

Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study.

Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study.

Journal: Life (Basel, Switzerland)

Published: November 29, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026