MF
Marianna Farnè
University of Ferrara, University of Bologna
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Telemedicine and Telehealth Implementation · Metabolism and Genetic Disorders
0000-0002-3735-158X
Employment
Employment history is unavailable.
Education
-
University of Ferrara Specialization in Medical Genetics2017 - 2021
-
University of Bologna Degree in Medicine and Surgery2010 - 2016
Projects & Funding
Projects & funding information is unavailable.
Publications (16)
- Luteolin use in Integrated Stress Response: insight from a case of EIF2AK2-related dystonia Save
- Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure. Save
- DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis. Save
- Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. Save
- SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern. Save
- Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project. Save
- mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies. Save
- Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience. Save
- TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases Save
- Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype Save
- The DMD gene and therapeutic approaches to restore dystrophin Save
- Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene. Save
- Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy? Save
- Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients. Save
- Type 1 Brugada Pattern Is Associated With Echocardiography-Detected Delayed Right Ventricular Outflow Tract Contraction. Save
- A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. Save