Catalogo dei prodotti della ricerca

PETRUCCI, SIMONA
 Distribuzione geografica
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Continente #
NA - Nord America 1.483
EU - Europa 1.057
AS - Asia 326
AF - Africa 14
SA - Sud America 9
OC - Oceania 5
Totale 2.894
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Nazione #
US - Stati Uniti d'America 1.464
IT - Italia 644
SG - Singapore 137
SE - Svezia 134
IN - India 93
CN - Cina 70
FI - Finlandia 68
IE - Irlanda 49
DE - Germania 37
GB - Regno Unito 28
BG - Bulgaria 24
FR - Francia 15
UA - Ucraina 14
RO - Romania 12
TG - Togo 10
CA - Canada 9
BE - Belgio 8
CH - Svizzera 8
HK - Hong Kong 8
MX - Messico 8
NL - Olanda 6
TR - Turchia 6
AU - Australia 5
BR - Brasile 4
LU - Lussemburgo 4
AR - Argentina 3
IL - Israele 3
PT - Portogallo 3
ZA - Sudafrica 3
CR - Costa Rica 2
JP - Giappone 2
KZ - Kazakistan 2
AT - Austria 1
CL - Cile 1
CZ - Repubblica Ceca 1
EC - Ecuador 1
EG - Egitto 1
ID - Indonesia 1
IR - Iran 1
KR - Corea 1
PL - Polonia 1
QA - Qatar 1
TW - Taiwan 1
Totale 2.894
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Città #
Fairfield 222
Rome 138
Ashburn 126
Chandler 105
Woodbridge 97
Singapore 93
Houston 86
Seattle 80
Wilmington 79
Cambridge 62
Beijing 60
San Paolo di Civitate 50
Dublin 49
Ann Arbor 46
Princeton 45
Milan 40
Helsinki 39
Millbury 38
Lawrence 37
New York 30
San Diego 25
Sofia 24
Plano 17
Andover 16
Cagliari 16
Norwalk 16
Lappeenranta 13
Formello 10
Lomé 10
Santa Clara 10
Turin 10
Dearborn 9
Naples 9
Hong Kong 8
Padova 8
Boston 7
Bremen 7
Genoa 7
Pune 7
Boardman 6
Des Moines 6
Fremont 6
Istanbul 6
Lambeth 6
London 6
Vicopisano 6
Bari 5
Bologna 5
Brussels 5
Sydney 5
Toronto 5
Anguillara Sabazia 4
Avellino 4
Bühl 4
Catania 4
Chicago 4
Dixon 4
Kumar 4
San Mateo 4
Vicenza 4
Brugherio 3
Capaccio 3
Federal 3
Ferrara 3
Florence 3
Giugliano In Campania 3
Liverpool 3
Livorno 3
Luxembourg 3
Mexico City 3
Ottawa 3
Palermo 3
Paris 3
Phoenix 3
Pisa 3
Pittsburgh 3
Ravenna 3
Salerno 3
Santa Maria Chimalhuacan 3
Verona 3
Villmergen 3
Agropoli 2
Bergamo 2
Berlin 2
Bern 2
Boa Vista 2
Bolzano Vicentino 2
Carmignano di Brenta 2
Catanzaro 2
Cesa 2
Coimbra 2
Dallas 2
Fisciano 2
Gragnano 2
Guidonia Montecelio 2
Hemel Hempstead 2
Jacksonville 2
L'aquila 2
Lallio 2
Lod 2
Totale 1.955
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Nome #
Frequenza e spettro fenotipico del gene GBA in una ampia casistica italiana di pazienti con malattia di Parkinson 240
Frequency and clinical features of GBA mutations in Italian patients with Parkinson disease 146
BDNF and LTP-/LTD-like plasticity of the primary motor cortex in Gilles de la Tourette syndrome 117
The Contursi Family 20 years later. intrafamilial phenotypic variability of the SNCA p.A53T mutation 104
Genetic paradoxes in an italian family with PARK2 multiexon duplication 92
Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier 88
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers 84
DYT2 screening in early-onset isolated dystonia 83
Intravenous Levetiracetam as first-line treatment of status epilepticus in the elderly 77
Diffusion-weighted magnetic resonance imaging in patients with partial status epilepticus 73
Gamma-transcranial alternating current stimulation and theta-burst stimulation. inter-subject variability and the role of BDNF 69
Focal epileptic seizure induced by transient hypoglycaemia in insulin-treated diabetes. 68
Phenotypic spectrum of alpha-synuclein mutations. New insights from patients and cellular models 68
Aberrant function of the C-terminal tail of HIST1H1E Aacelerates cellular senescence and causes premature aging 68
Brain connectivity changes in autosomal recessive Parkinson disease. A model for the sporadic form 63
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs 62
CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis 57
Electrical status epilepticus "invisible" to surface EEG in late-onset Rasmussen encephalitis 55
Frequency of loss of function variants in LRRK2 in Parkinson disease 55
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways 55
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing 54
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 53
A dangerous food binge. a case report of hypokalemic periodic paralysis and review of current literature 51
Using global team science to identify genetic parkinson's disease worldwide 51
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 50
Parkinson disease genetics. A “continuum” from mendelian to multifactorial inheritance 49
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease 47
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 47
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas. insights into molecular properties of selected exostosin variants 46
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome 45
Young-onset and late-onset Parkinson's disease exhibit a different profile of fluid biomarkers and clinical features 45
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 44
Alpha-synuclein gene duplication. Marked intrafamilial variability in two novel pedigrees 44
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 42
Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies 39
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer 39
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 38
Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium 38
Genetics and Molecular Biology of Parkinson Disease 36
Genetic issues in the diagnosis of dystonias 35
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings 35
Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia 34
Whole-exome sequencing for variant discovery in blepharospasm 33
Phenotypic variability of PINK1 expression. 12 Years' clinical follow-up of two Italian families 33
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation 32
Impulsive-compulsive behaviors in parkin -associated Parkinson disease 29
Complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature? 28
Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease? 28
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease 27
Mitochondrial disfunction as a cause of ALS 23
null 19
Embracing Monogenic Parkinson's Disease. The MJFF Global Genetic PD Cohort 18
null 18
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 17
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes 17
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report 17
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 17
The role of genetic testing in suspected fulminant myocarditis: a case report 16
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors 14
Dairy Intake and Parkinson's Disease. A Mendelian Randomization Study 14
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 13
Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease. Evidence From COURAGE-PD Consortium 13
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 10
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease 9
Seminological, hormonal and ultrasonographic features of male factor infertility due to genetic causes: results from a large monocentric retrospective study 9
Prenatal CFAP53-related laterality defect: case report and review of the literature 6
Paradossi genotipo-fenotipo in una famiglia italiana con una duplicazione multiesonica del gene Parkin 1
Totale 3.147
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Categoria #
all - tutte 10.259
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 10.259
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020408 0 0 8 10 22 32 32 39 27 146 52 40
2020/2021339 32 44 26 69 25 20 4 21 35 37 18 8
2021/2022502 16 32 46 19 63 18 23 45 23 35 107 75
2022/2023684 98 123 35 49 66 78 25 57 87 23 22 21
2023/2024619 20 59 33 57 63 105 21 57 6 64 79 55
2024/2025202 54 75 73 0 0 0 0 0 0 0 0 0
Totale 3.147