IRIS
GAMBARDELLA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 6.398
AS - Asia 2.681
EU - Europa 2.423
SA - Sud America 502
AF - Africa 59
OC - Oceania 20
Continente sconosciuto - Info sul continente non disponibili 7
AN - Antartide 1
Totale 12.091
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Nazione #
US - Stati Uniti d'America 6.307
CN - Cina 1.047
SG - Singapore 903
UA - Ucraina 468
IT - Italia 407
RU - Federazione Russa 404
BR - Brasile 381
VN - Vietnam 278
SE - Svezia 208
DE - Germania 206
TR - Turchia 172
GB - Regno Unito 150
FR - Francia 146
IE - Irlanda 142
FI - Finlandia 138
IN - India 63
CA - Canada 57
AR - Argentina 52
HK - Hong Kong 42
PL - Polonia 30
EC - Ecuador 26
ID - Indonesia 26
JP - Giappone 21
PK - Pakistan 21
BD - Bangladesh 20
BE - Belgio 19
ZA - Sudafrica 19
ES - Italia 18
KR - Corea 18
MX - Messico 17
AU - Australia 16
NL - Olanda 13
AT - Austria 10
LT - Lituania 10
PY - Paraguay 10
CO - Colombia 9
MA - Marocco 9
KE - Kenya 8
SA - Arabia Saudita 8
CL - Cile 7
EE - Estonia 7
EG - Egitto 7
EU - Europa 7
IL - Israele 7
LV - Lettonia 7
PH - Filippine 7
IQ - Iraq 6
TN - Tunisia 6
VE - Venezuela 6
AE - Emirati Arabi Uniti 5
DO - Repubblica Dominicana 5
MY - Malesia 5
PE - Perù 5
PT - Portogallo 5
TH - Thailandia 5
AL - Albania 4
DZ - Algeria 4
NZ - Nuova Zelanda 4
UZ - Uzbekistan 4
CH - Svizzera 3
GR - Grecia 3
GY - Guiana 3
HU - Ungheria 3
JM - Giamaica 3
NO - Norvegia 3
AM - Armenia 2
AZ - Azerbaigian 2
BG - Bulgaria 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
JO - Giordania 2
KZ - Kazakistan 2
NI - Nicaragua 2
RO - Romania 2
SI - Slovenia 2
AQ - Antartide 1
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
BW - Botswana 1
BY - Bielorussia 1
CG - Congo 1
CI - Costa d'Avorio 1
CY - Cipro 1
DK - Danimarca 1
ET - Etiopia 1
GD - Grenada 1
HN - Honduras 1
HR - Croazia 1
IM - Isola di Man 1
IR - Iran 1
IS - Islanda 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
LU - Lussemburgo 1
ME - Montenegro 1
MK - Macedonia 1
MN - Mongolia 1
MT - Malta 1
Totale 12.075
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Città #
Fairfield 928
Ashburn 725
Woodbridge 447
Jacksonville 381
Seattle 369
Singapore 350
Cambridge 347
Wilmington 336
San Jose 328
Houston 326
Chandler 184
Dallas 166
Beijing 162
Dublin 141
New York 140
Helsinki 129
Izmir 122
Los Angeles 122
Boardman 121
Nanjing 119
Ann Arbor 114
Ho Chi Minh City 94
Lauterbourg 90
Bremen 78
Princeton 78
Buffalo 59
Urbino 58
Hanoi 57
London 46
Nanchang 42
San Diego 42
Shenyang 40
Hong Kong 39
Moscow 37
Santa Clara 37
Hebei 35
Jinan 33
São Paulo 32
Chicago 31
Council Bluffs 30
Frankfurt am Main 29
Istanbul 28
Jiaxing 28
Changsha 27
Warsaw 26
Tianjin 24
The Dalles 23
Dong Ket 22
Rome 21
Denver 20
Rio de Janeiro 20
Toronto 20
Orem 19
Phoenix 19
Tokyo 19
Brussels 18
Munich 18
Rimini 18
Shanghai 18
Da Nang 16
Stockholm 16
Dearborn 15
Hangzhou 15
Chennai 14
Montreal 14
Nuremberg 14
Seongnam 14
Norwalk 13
San Francisco 13
Caserta 12
Guangzhou 12
Poplar 12
Ancona 11
Haiphong 11
Johannesburg 11
Milan 11
Ningbo 11
Quito 11
Curitiba 10
Paris 10
Salt Lake City 10
Buenos Aires 9
Chengdu 9
Guayaquil 9
Boston 8
Calcinelli 8
Acton 7
Belo Horizonte 7
Brasília 7
Campinas 7
Düsseldorf 7
Melbourne 7
Monterotondo 7
Nairobi 7
Riga 7
Tallinn 7
Amsterdam 6
Charleston 6
Chelles 6
Chiswick 6
Totale 7.845
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Nome #
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders 237
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 4 227
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease 214
Using global team science to identify genetic parkinson's disease worldwide. 206
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era 202
Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons 202
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study 196
Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia 192
Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease" 190
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease 190
Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease 186
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset 181
Circulating miR-127-3p as a Potential Biomarker for Differential Diagnosis in Frontotemporal Dementia 180
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity 176
Denaturing HPLC in laboratory diagnosis of hereditary angioedema 173
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 173
Small molecule-induced epigenomic reprogramming of APL blasts leading to antiviral-like response and c-MYC downregulation 171
Chronic pancreatitis: A case of incomplete penetrance in two carriers of CFTR and PRSS1 mutations 171
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities 167
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 166
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 164
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease 164
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 164
A Focus on the Beneficial Effects of Alpha Synuclein and a Re-Appraisal of Synucleinopathies 163
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings 161
A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report 160
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B*57:01 160
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 159
Four copies of SNCA responsible of autosomal dominant Parkinson's disease in two Italian siblings 156
Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress 155
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) 151
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers 150
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers 147
The dark side of histones: genomic organization and role of oncohistones in cancer 147
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 145
Gene expression profiling of fibroblasts from a human progeroid disease (Mandibuloacral dysplasia, MAD #248370) through cDNA microarrays 140
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures 139
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report 138
Gene expression profile study in CFTR mutated bronchial cell lines 137
Gonadal mosaicism in hereditary angioedema 135
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome 134
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease 132
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism 129
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect 128
Gene expression analysis in myotonic dystrophy: Indications for a common molecular pathogenic pathway in DM1 and DM2 128
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis? 127
mTOR-Dependent Cell Proliferation in the Brain 126
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens 126
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) 125
Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas 124
The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions 124
Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art 123
Interdependency Between Autophagy and Synaptic Vesicle Trafficking: Implications for Dopamine Release 123
Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion 123
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants 117
Next Generation Sequencing and ALS: known genes, different phenotyphes 115
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 115
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 114
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders 112
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells 105
Variations of Inflammatory Mediators and alpha(1)-Antitrypsin Levels after Lung Volume Reduction Surgery for Emphysema 104
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 102
Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity 101
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 100
Gene symbol: ED1. Disease: Ectodermal dysplasia 100
Toward the pharmacogenomics of cystic fibrosis - an update 98
Revisiting the gamma loop in ALS 97
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies 97
TREM Receptors Connecting Bowel Inflammation to Neurodegenerative Disorders 96
Gene symbol: ED1. Disease: Ectodermal dysplasia 94
The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis 93
Fibroblast expression profile analysis in the human progeroid syndrome (MAD) associated to LMNA mutations 93
Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies 91
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis 91
The Etiology of Acute Recurrent Pancreatitis in Children A Challenge for Pediatricians 89
A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment 86
Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation Report on CFTR Mutations and Their Phenotypic Variability 86
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia 85
Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: Identification of 14 novel mutations in Italian patients 85
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells 85
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 82
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants 82
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 81
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 81
Hyperproliferation in Nasal Polyposis Tissues Is Not Associated with Somatic Genomic Instability 81
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis 76
Identification of sixteen novel candidate genes for late onset Parkinson's disease 74
Methamphetamine increases Prion Protein and induces dopamine-dependent expression of protease resistant PrPsc 71
Rapamycin promotes differentiation increasing beta III-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells 69
Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans 63
Neurons other than motor neurons in motor neuron disease 63
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort 59
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 46
Isolated Generalized Chorea in a Patient with Small-Expanded Allele Spinocerebellar Ataxia 17 43
SPG7 p.A510V heterozygosity as a cause of adult-onset cerebellar ataxia without spasticity: longitudinal evidence from a sporadic case 42
An IL-5 Single-Nucleotide Polymorphism Influences Neuroinflammation and Prospective Disease Activity in Multiple Sclerosis 40
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation 38
RAB32 mutation in Parkinson's disease 28
null 14
Totale 12.291
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Categoria #
all - tutte 59.369
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 59.369
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202175 0 0 0 0 0 0 0 0 0 0 0 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
2025/20263.907 282 344 561 752 460 208 370 88 259 350 198 35
Totale 12.291