| Titolo |
Pubblicato in |
Anno |
| Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy |
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY |
2025 |
| Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease |
FRONTIERS IN NEUROLOGY |
2024 |
| Seminological, hormonal and ultrasonographic features of male factor infertility due to genetic causes: results from a large monocentric retrospective study |
JOURNAL OF CLINICAL MEDICINE |
2024 |
| Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort |
ANNALS OF LABORATORY MEDICINE |
2024 |
| Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review |
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
2024 |
| Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort |
MOVEMENT DISORDERS |
2023 |
| Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers |
MOVEMENT DISORDERS |
2023 |
| A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy |
CURRENT ISSUES IN MOLECULAR BIOLOGY |
2023 |
| Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease? |
FRONTIERS IN CARDIOVASCULAR MEDICINE |
2023 |
| Prenatal CFAP53-related laterality defect: case report and review of the literature |
THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE |
2023 |
| The role of genetic testing in suspected fulminant myocarditis: A case report |
MOLECULAR GENETICS AND METABOLISM REPORTS |
2023 |
| European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes |
JOURNAL OF NEUROENDOCRINOLOGY |
2023 |
| Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility |
BIOMEDICINES |
2023 |
| Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors |
GENES |
2023 |
| Prenatal CFAP53-related laterality defect: case report and review of the literature |
THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE |
2023 |
| Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer |
DIAGNOSTICS |
2022 |
| Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease |
JOURNAL OF PARKINSON'S DISEASE |
2022 |
| Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium |
NEUROLOGY |
2022 |
| From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways |
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH |
2022 |
| A dangerous food binge. a case report of hypokalemic periodic paralysis and review of current literature |
THE ITALIAN JOURNAL OF PEDIATRICS |
2022 |
