IRIS
GAMBARDELLA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 5.719
AS - Asia 2.276
EU - Europa 2.060
SA - Sud America 470
AF - Africa 41
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 7
AN - Antartide 1
Totale 10.593
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Nazione #
US - Stati Uniti d'America 5.651
CN - Cina 945
SG - Singapore 741
UA - Ucraina 467
BR - Brasile 360
IT - Italia 358
RU - Federazione Russa 221
VN - Vietnam 209
SE - Svezia 204
DE - Germania 195
TR - Turchia 169
IE - Irlanda 142
GB - Regno Unito 140
FI - Finlandia 135
FR - Francia 59
IN - India 52
AR - Argentina 48
CA - Canada 46
PL - Polonia 28
HK - Hong Kong 27
EC - Ecuador 25
ID - Indonesia 25
BE - Belgio 19
JP - Giappone 18
PK - Pakistan 17
ZA - Sudafrica 17
BD - Bangladesh 16
AU - Australia 15
ES - Italia 15
KR - Corea 15
MX - Messico 13
AT - Austria 10
LT - Lituania 10
PY - Paraguay 10
CO - Colombia 9
NL - Olanda 9
MA - Marocco 8
EE - Estonia 7
EG - Egitto 7
EU - Europa 7
CL - Cile 6
IL - Israele 6
LV - Lettonia 6
MY - Malesia 5
PE - Perù 5
PT - Portogallo 5
AL - Albania 4
IQ - Iraq 4
NZ - Nuova Zelanda 4
SA - Arabia Saudita 4
DO - Repubblica Dominicana 3
GR - Grecia 3
GY - Guiana 3
HU - Ungheria 3
KE - Kenya 3
NO - Norvegia 3
PH - Filippine 3
TH - Thailandia 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
BG - Bulgaria 2
CH - Svizzera 2
CZ - Repubblica Ceca 2
KZ - Kazakistan 2
RO - Romania 2
UZ - Uzbekistan 2
VE - Venezuela 2
AM - Armenia 1
AQ - Antartide 1
AZ - Azerbaigian 1
BB - Barbados 1
BO - Bolivia 1
BY - Bielorussia 1
CG - Congo 1
DZ - Algeria 1
HN - Honduras 1
HR - Croazia 1
IM - Isola di Man 1
IS - Islanda 1
JM - Giamaica 1
JO - Giordania 1
KH - Cambogia 1
KW - Kuwait 1
LU - Lussemburgo 1
ME - Montenegro 1
MK - Macedonia 1
MT - Malta 1
NI - Nicaragua 1
OM - Oman 1
PA - Panama 1
QA - Qatar 1
SK - Slovacchia (Repubblica Slovacca) 1
SL - Sierra Leone 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TJ - Tagikistan 1
TW - Taiwan 1
UY - Uruguay 1
YE - Yemen 1
Totale 10.593
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Città #
Fairfield 928
Ashburn 644
Woodbridge 447
Jacksonville 378
Seattle 369
Cambridge 347
Wilmington 336
Houston 325
Singapore 252
Chandler 184
Dallas 163
Beijing 156
Dublin 141
New York 131
Helsinki 126
Izmir 122
Nanjing 118
Ann Arbor 114
Los Angeles 107
Boardman 102
Bremen 78
Princeton 78
Ho Chi Minh City 75
Urbino 58
Buffalo 52
Hanoi 42
Nanchang 42
London 40
San Diego 40
Shenyang 40
Moscow 36
Hebei 35
Jinan 33
São Paulo 30
Santa Clara 29
Jiaxing 28
Chicago 27
Istanbul 27
Changsha 26
Hong Kong 26
Warsaw 24
Tianjin 23
Dong Ket 22
Frankfurt am Main 20
Toronto 20
Rio de Janeiro 19
Rome 19
Brussels 18
Munich 18
Shanghai 17
Tokyo 16
Dearborn 15
Seongnam 14
Norwalk 13
Nuremberg 13
Phoenix 13
The Dalles 13
Caserta 12
Da Nang 12
Stockholm 12
Ancona 11
Chennai 11
Denver 11
Guangzhou 11
Hangzhou 11
Milan 11
Ningbo 11
Poplar 11
San Francisco 11
Curitiba 10
Johannesburg 10
Paris 10
Quito 10
Guayaquil 9
Montreal 9
Salt Lake City 9
Chengdu 8
Orem 8
Acton 7
Belo Horizonte 7
Boston 7
Brasília 7
Buenos Aires 7
Campinas 7
Düsseldorf 7
Melbourne 7
Monterotondo 7
Tallinn 7
Chelles 6
Chiswick 6
Haiphong 6
Lanzhou 6
Manchester 6
Mülheim 6
Redwood City 6
Riga 6
Romainville 6
Shenzhen 6
Southwark 6
Taizhou 6
Totale 6.989
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Nome #
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders 224
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4 205
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease 199
Using global team science to identify genetic parkinson's disease worldwide. 193
Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons 192
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era 188
Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia 181
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study 179
Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease" 178
Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease 177
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease 173
Circulating miR-127-3p as a Potential Biomarker for Differential Diagnosis in Frontotemporal Dementia 166
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity 166
Chronic pancreatitis: A case of incomplete penetrance in two carriers of CFTR and PRSS1 mutations 163
Denaturing HPLC in laboratory diagnosis of hereditary angioedema 162
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities 159
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 158
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset 157
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 156
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease 154
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B*57:01 152
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 151
A Focus on the Beneficial Effects of Alpha Synuclein and a Re-Appraisal of Synucleinopathies 151
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 150
A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report 149
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 146
Four copies of SNCA responsible of autosomal dominant Parkinson's disease in two Italian siblings 146
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings 145
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 135
Small molecule-induced epigenomic reprogramming of APL blasts leading to antiviral-like response and c-MYC downregulation 132
Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress 130
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report 129
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) 129
Gene expression profiling of fibroblasts from a human progeroid disease (Mandibuloacral dysplasia, MAD #248370) through cDNA microarrays 129
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome 129
The dark side of histones: genomic organization and role of oncohistones in cancer 129
Gonadal mosaicism in hereditary angioedema 129
Gene expression profile study in CFTR mutated bronchial cell lines 128
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers 128
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures 127
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism 123
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers 122
Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion 119
Gene expression analysis in myotonic dystrophy: Indications for a common molecular pathogenic pathway in DM1 and DM2 119
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease 119
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect 118
The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions 118
Interdependency Between Autophagy and Synaptic Vesicle Trafficking: Implications for Dopamine Release 116
mTOR-Dependent Cell Proliferation in the Brain 115
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis? 112
Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas 110
Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art 109
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens 108
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) 107
Next Generation Sequencing and ALS: known genes, different phenotyphes 106
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 98
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 98
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders 95
Toward the pharmacogenomics of cystic fibrosis - an update 92
Revisiting the gamma loop in ALS 90
Gene symbol: ED1. Disease: Ectodermal dysplasia 89
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants 87
Variations of Inflammatory Mediators and alpha(1)-Antitrypsin Levels after Lung Volume Reduction Surgery for Emphysema 86
TREM Receptors Connecting Bowel Inflammation to Neurodegenerative Disorders 86
Fibroblast expression profile analysis in the human progeroid syndrome (MAD) associated to LMNA mutations 85
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells 85
Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies 84
Gene symbol: ED1. Disease: Ectodermal dysplasia 83
The Etiology of Acute Recurrent Pancreatitis in Children A Challenge for Pediatricians 81
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells 78
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia 75
Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation Report on CFTR Mutations and Their Phenotypic Variability 75
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations 74
Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: Identification of 14 novel mutations in Italian patients 74
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies 74
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 73
Hyperproliferation in Nasal Polyposis Tissues Is Not Associated with Somatic Genomic Instability 73
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants 73
The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis 71
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis 69
Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity 67
A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment 67
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 67
Methamphetamine increases Prion Protein and induces dopamine-dependent expression of protease resistant PrPsc 64
Identification of sixteen novel candidate genes for late onset Parkinson's disease 61
Neurons other than motor neurons in motor neuron disease 56
Rapamycin promotes differentiation increasing beta III-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells 55
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 52
Modeling native and seeded Synuclein aggregation and related cellular dysfunctions in dopaminergic neurons derived by a new set of isogenic iPSC lines with SNCA multiplications 52
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis 49
Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans 48
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 22
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort 21
Isolated Generalized Chorea in a Patient with Small-Expanded Allele Spinocerebellar Ataxia 17 19
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SPG7 p.A510V heterozygosity as a cause of adult-onset cerebellar ataxia without spasticity: longitudinal evidence from a sporadic case 12
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation 9
An IL-5 Single-Nucleotide Polymorphism Influences Neuroinflammation and Prospective Disease Activity in Multiple Sclerosis 8
RAB32 mutation in Parkinson's disease 7
Totale 10.793
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Categoria #
all - tutte 54.406
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 54.406
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021876 0 0 0 0 0 153 133 81 156 136 142 75
2021/2022752 78 72 51 76 10 27 36 84 49 41 30 198
2022/20231.063 160 23 30 62 116 198 13 71 208 63 80 39
2023/2024364 32 24 33 54 22 125 14 12 1 12 4 31
2024/20251.475 59 63 277 67 101 117 166 44 227 160 136 58
2025/20262.409 282 344 561 752 460 10 0 0 0 0 0 0
Totale 10.793