Simona Petrucci | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
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
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
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study	MOVEMENT DISORDERS	2022
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited	MOVEMENT DISORDERS	2022
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome	DIAGNOSTICS	2022

Progetti di Ricerca

NOTCH3 pathogenic variants in multiple sclerosis patients: frequency, clinical features and disease-associated cellular phenotypes