Simona Petrucci

Pubblicazioni

Titolo Pubblicato in Anno
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
CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis ARCHIVES OF CLINICAL AND MEDICAL CASE REPORTS 2022
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature? DIAGNOSTICS 2022
Diagnostic and therapeutic recommendations in adult dystonia: a joint document by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum Toxin NEUROLOGICAL SCIENCES 2022
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report MOLECULAR GENETICS AND METABOLISM REPORTS 2021
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings FRONTIERS IN NEUROLOGY 2021
Young-onset and late-onset Parkinson's disease exhibit a different profile of fluid biomarkers and clinical features NEUROBIOLOGY OF AGING 2020
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing JOURNAL OF CLINICAL MEDICINE 2020
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort MOVEMENT DISORDERS 2020
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers JOURNAL OF CLINICAL MEDICINE 2020
Gamma-transcranial alternating current stimulation and theta-burst stimulation. inter-subject variability and the role of BDNF CLINICAL NEUROPHYSIOLOGY 2020
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism BRAIN 2020
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort MOVEMENT DISORDERS 2020
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas. insights into molecular properties of selected exostosin variants HUMAN MOLECULAR GENETICS 2019
Aberrant function of the C-terminal tail of HIST1H1E Aacelerates cellular senescence and causes premature aging AMERICAN JOURNAL OF HUMAN GENETICS 2019
Using global team science to identify genetic parkinson's disease worldwide ANNALS OF NEUROLOGY 2019
Frequency of loss of function variants in LRRK2 in Parkinson disease JAMA NEUROLOGY 2018
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation JOURNAL OF THE NEUROLOGICAL SCIENCES 2018
Whole-exome sequencing for variant discovery in blepharospasm MOLECULAR GENETICS & GENOMIC MEDICINE 2018

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