Catalogo dei prodotti della ricerca

PETRUCCI, SIMONA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.568
EU - Europa 1.180
AS - Asia 439
SA - Sud America 24
AF - Africa 15
OC - Oceania 5
Totale 3.231
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.546
IT - Italia 721
SG - Singapore 199
SE - Svezia 134
IN - India 93
CN - Cina 79
FI - Finlandia 77
IE - Irlanda 54
DE - Germania 44
ID - Indonesia 41
GB - Regno Unito 33
BG - Bulgaria 25
BR - Brasile 19
FR - Francia 15
NL - Olanda 14
UA - Ucraina 14
RO - Romania 12
CH - Svizzera 11
CA - Canada 10
MX - Messico 10
TG - Togo 10
BE - Belgio 9
HK - Hong Kong 8
TR - Turchia 6
AU - Australia 5
LU - Lussemburgo 4
ZA - Sudafrica 4
AR - Argentina 3
IL - Israele 3
PT - Portogallo 3
CR - Costa Rica 2
ES - Italia 2
GR - Grecia 2
JP - Giappone 2
KZ - Kazakistan 2
AT - Austria 1
BD - Bangladesh 1
CL - Cile 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
IQ - Iraq 1
IR - Iran 1
KR - Corea 1
LT - Lituania 1
PL - Polonia 1
QA - Qatar 1
RU - Federazione Russa 1
TW - Taiwan 1
Totale 3.231
Salva come PNG Salva come JPEG
Città #
Fairfield 222
Rome 154
Singapore 144
Ashburn 130
Chandler 105
Woodbridge 97
Houston 86
Seattle 80
Wilmington 79
Santa Clara 70
Cambridge 64
Beijing 60
Dublin 54
San Paolo di Civitate 50
Milan 49
Helsinki 47
Ann Arbor 46
Princeton 45
Jakarta 40
Millbury 38
Lawrence 37
New York 30
San Diego 25
Sofia 24
Cagliari 19
Plano 17
Andover 16
Norwalk 16
Boardman 14
Lappeenranta 14
Genoa 11
Padova 11
Turin 11
Formello 10
Lomé 10
Boston 9
Dearborn 9
Naples 9
Hong Kong 8
Bremen 7
Pune 7
Bologna 6
Brussels 6
Des Moines 6
Falkenstein 6
Fremont 6
Istanbul 6
Lambeth 6
London 6
Toronto 6
Vicopisano 6
Bari 5
Sydney 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
Los Angeles 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
Southwark 3
Terralba 3
Verona 3
Villmergen 3
Zurich 3
Agropoli 2
Athens 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
Totale 2.181
Salva come PNG Salva come JPEG
Nome #
Frequenza e spettro fenotipico del gene GBA in una ampia casistica italiana di pazienti con malattia di Parkinson 266
Frequency and clinical features of GBA mutations in Italian patients with Parkinson disease 151
The Contursi Family 20 years later. intrafamilial phenotypic variability of the SNCA p.A53T mutation 139
BDNF and LTP-/LTD-like plasticity of the primary motor cortex in Gilles de la Tourette syndrome 122
Genetic paradoxes in an italian family with PARK2 multiexon duplication 95
Progressive Supranuclear Palsy-Like Phenotype in a GBA E326K Mutation Carrier 93
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs 93
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers 92
DYT2 screening in early-onset isolated dystonia 85
Intravenous Levetiracetam as first-line treatment of status epilepticus in the elderly 77
Diffusion-weighted magnetic resonance imaging in patients with partial status epilepticus 76
Aberrant function of the C-terminal tail of HIST1H1E Aacelerates cellular senescence and causes premature aging 73
Gamma-transcranial alternating current stimulation and theta-burst stimulation. inter-subject variability and the role of BDNF 73
Focal epileptic seizure induced by transient hypoglycaemia in insulin-treated diabetes. 71
CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis 69
Phenotypic spectrum of alpha-synuclein mutations. New insights from patients and cellular models 69
Brain connectivity changes in autosomal recessive Parkinson disease. A model for the sporadic form 65
A dangerous food binge. a case report of hypokalemic periodic paralysis and review of current literature 62
Frequency of loss of function variants in LRRK2 in Parkinson disease 59
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways 59
Electrical status epilepticus "invisible" to surface EEG in late-onset Rasmussen encephalitis 57
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 56
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing 56
Using global team science to identify genetic parkinson's disease worldwide 55
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism 55
Parkinson disease genetics. A “continuum” from mendelian to multifactorial inheritance 55
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome 51
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 50
Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease 49
Young-onset and late-onset Parkinson's disease exhibit a different profile of fluid biomarkers and clinical features 49
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 48
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas. insights into molecular properties of selected exostosin variants 47
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 47
Alpha-synuclein gene duplication. Marked intrafamilial variability in two novel pedigrees 44
Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium 43
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer 43
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings 41
Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies 40
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 38
Genetic issues in the diagnosis of dystonias 36
Genetics and Molecular Biology of Parkinson Disease 36
Complete pseudo-anodontia in an adult woman with pseudo-hypoparathyroidism type 1a: a new additional nonclassical feature? 35
Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia 35
Long QTc in hypertrophic cardiomyopathy. A consequence of structural myocardial damage or a distinct genetic disease? 34
Whole-exome sequencing for variant discovery in blepharospasm 34
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 30
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease 28
Mitochondrial disfunction as a cause of ALS 24
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 23
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 22
Embracing Monogenic Parkinson's Disease. The MJFF Global Genetic PD Cohort 22
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report 22
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility 21
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors 20
The role of genetic testing in suspected fulminant myocarditis: a case report 20
Seminological, hormonal and ultrasonographic features of male factor infertility due to genetic causes: results from a large monocentric retrospective study 19
null 19
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes 18
null 18
Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease. Evidence From COURAGE-PD Consortium 18
Dairy Intake and Parkinson's Disease. A Mendelian Randomization Study 17
Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease 15
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 13
Prenatal CFAP53-related laterality defect: case report and review of the literature 11
Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review 11
Re-analysis of next-generation sequencing data in patients with hypertrophic cardiomyopathy: contribution of spliceogenic MYBPC3 variants in an italian cohort 9
Paradossi genotipo-fenotipo in una famiglia italiana con una duplicazione multiesonica del gene Parkin 2
Totale 3.490
Salva come PNG Salva come JPEG
Categoria #
all - tutte 12.182
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 12.182
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020368 0 0 0 0 0 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
2024/2025545 54 75 88 112 123 93 0 0 0 0 0 0
Totale 3.490