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simona.petrucci@uniroma1.it
Simona Petrucci
Ricercatore
Struttura:
DIPARTIMENTO DI MEDICINA CLINICA E MOLECOLARE
E-mail:
simona.petrucci@uniroma1.it
Pagina istituzionale corsi di laurea
Curriculum Sapienza
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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Progetti di Ricerca
NOTCH3 pathogenic variants in multiple sclerosis patients: frequency, clinical features and disease-associated cellular phenotypes
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