Marianna Farne
Ferrara, Italy
Last Updated: 09/26/2026
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Found 14 publications
Luteolin use in Integrated Stress Response: insight from a case of EIF2AK2-related dystonia.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 27, 2025
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure.
Journal: Movement disorders clinical practice
Published: August 05, 2024
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern.
Journal: Journal of cardiovascular medicine (Hagerstown, Md.)
Published: November 09, 2023
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Journal: PloS one
Published: September 19, 2023
DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis.
Journal: Frontiers in neurology
Published: September 04, 2023
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.
Journal: Scientific reports
Published: May 04, 2023
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.
Journal: European journal of medical genetics
Published: November 11, 2022
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
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
Journal: American journal of medical genetics. Part A
Published: July 30, 2021
The DMD gene and therapeutic approaches to restore dystrophin.
Journal: Neuromuscular disorders : NMD
Published: July 30, 2021
Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene.
Journal: Journal of cardiovascular development and disease
Published: July 29, 2021
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients.
Journal: International journal of molecular sciences
Published: May 12, 2021
Last Updated: 09/26/2026