IRIS
GAMBARDELLA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 4.741
EU - Europa 1.634
AS - Asia 1.004
OC - Oceania 16
SA - Sud America 15
AF - Africa 9
Continente sconosciuto - Info sul continente non disponibili 7
Totale 7.426
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Nazione #
US - Stati Uniti d'America 4.716
CN - Cina 573
UA - Ucraina 463
IT - Italia 304
SE - Svezia 194
TR - Turchia 165
SG - Singapore 164
DE - Germania 146
IE - Irlanda 141
FI - Finlandia 127
GB - Regno Unito 89
RU - Federazione Russa 82
FR - Francia 36
IN - India 29
CA - Canada 24
VN - Vietnam 23
BE - Belgio 17
KR - Corea 15
AU - Australia 14
PK - Pakistan 12
EU - Europa 7
AR - Argentina 6
ID - Indonesia 4
JP - Giappone 4
LT - Lituania 4
PT - Portogallo 4
BR - Brasile 3
CL - Cile 3
EG - Egitto 3
HU - Ungheria 3
LV - Lettonia 3
SA - Arabia Saudita 3
EE - Estonia 2
GR - Grecia 2
IL - Israele 2
MA - Marocco 2
MY - Malesia 2
NL - Olanda 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
PL - Polonia 2
RO - Romania 2
TH - Thailandia 2
TN - Tunisia 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AZ - Azerbaigian 1
BO - Bolivia 1
CH - Svizzera 1
EC - Ecuador 1
ES - Italia 1
HK - Hong Kong 1
HR - Croazia 1
IM - Isola di Man 1
JM - Giamaica 1
KE - Kenya 1
LU - Lussemburgo 1
ME - Montenegro 1
MK - Macedonia 1
OM - Oman 1
PE - Perù 1
SK - Slovacchia (Repubblica Slovacca) 1
SL - Sierra Leone 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 7.426
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Città #
Fairfield 928
Woodbridge 447
Ashburn 425
Jacksonville 378
Seattle 368
Cambridge 347
Wilmington 334
Houston 318
Chandler 184
Singapore 141
Dublin 140
Helsinki 122
Izmir 122
Nanjing 117
Ann Arbor 114
Boardman 102
New York 92
Bremen 78
Princeton 78
Urbino 43
Nanchang 42
San Diego 40
Shenyang 39
Beijing 36
Hebei 35
Jinan 31
Jiaxing 28
Istanbul 27
London 27
Changsha 23
Santa Clara 23
Tianjin 23
Dong Ket 22
Toronto 18
Brussels 16
Dearborn 15
Rome 15
Seongnam 14
Norwalk 13
Caserta 12
Moscow 12
Shanghai 12
Ancona 11
Ningbo 11
Hangzhou 9
Los Angeles 9
Paris 9
Chengdu 8
Frankfurt am Main 8
Milan 8
San Francisco 8
Acton 7
Guangzhou 7
Melbourne 7
Monterotondo 7
Munich 7
Chelles 6
Chiswick 6
Lanzhou 6
Mülheim 6
Redwood City 6
Romainville 6
Shenzhen 6
Southwark 6
Kilburn 5
Lahore 5
Portland 5
Taizhou 5
Amantea 4
Buenos Aires 4
Canberra 4
Civitanova Marche 4
Macerata 4
Prescot 4
Sant'Elpidio a Mare 4
Zhengzhou 4
Chicago 3
Cosenza 3
Hounslow 3
New Bedfont 3
Osimo 3
Porto 3
Pune 3
Ravenna 3
Riga 3
Riyadh 3
Serra 3
Surabaya 3
Tappahannock 3
Teramo 3
Washington 3
Al Qahirah al Jadidah 2
Alghero 2
Athens 2
Bari 2
Borås 2
Castelplanio 2
Cerreto Guidi 2
Fano 2
Gunzenhausen 2
Totale 5.680
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Nome #
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders 183
Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons 178
Using global team science to identify genetic parkinson's disease worldwide. 168
Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease 159
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 4 159
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease 156
Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia 140
Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease" 137
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease 136
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study 135
Denaturing HPLC in laboratory diagnosis of hereditary angioedema 132
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity 127
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease 127
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities 126
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era 125
Circulating miR-127-3p as a Potential Biomarker for Differential Diagnosis in Frontotemporal Dementia 123
Chronic pancreatitis: A case of incomplete penetrance in two carriers of CFTR and PRSS1 mutations 123
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 122
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 121
Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress 119
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures 114
A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report 112
A Focus on the Beneficial Effects of Alpha Synuclein and a Re-Appraisal of Synucleinopathies 112
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings 110
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism 109
Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion 107
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B*57:01 106
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 105
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect 105
Gene expression analysis in myotonic dystrophy: Indications for a common molecular pathogenic pathway in DM1 and DM2 105
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 104
The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions 103
Interdependency Between Autophagy and Synaptic Vesicle Trafficking: Implications for Dopamine Release 103
mTOR-Dependent Cell Proliferation in the Brain 101
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers 101
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset 101
Gonadal mosaicism in hereditary angioedema 100
Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas 99
Four copies of SNCA responsible of autosomal dominant Parkinson's disease in two Italian siblings 99
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis? 97
The dark side of histones: genomic organization and role of oncohistones in cancer 97
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 96
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens 95
Gene expression profile study in CFTR mutated bronchial cell lines 95
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report 94
Gene expression profiling of fibroblasts from a human progeroid disease (Mandibuloacral dysplasia, MAD #248370) through cDNA microarrays 94
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 93
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome 93
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) 89
Toward the pharmacogenomics of cystic fibrosis - an update 82
Revisiting the gamma loop in ALS 76
TREM Receptors Connecting Bowel Inflammation to Neurodegenerative Disorders 73
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers 73
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease 71
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells 68
Next Generation Sequencing and ALS: known genes, different phenotyphes 67
Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies 67
Small molecule-induced epigenomic reprogramming of APL blasts leading to antiviral-like response and c-MYC downregulation 62
Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art 58
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) 56
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 56
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells 55
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 54
Gene symbol: ED1. Disease: Ectodermal dysplasia 53
Gene symbol: ED1. Disease: Ectodermal dysplasia 50
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders 50
Methamphetamine increases Prion Protein and induces dopamine-dependent expression of protease resistant PrPsc 49
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants 49
The Etiology of Acute Recurrent Pancreatitis in Children A Challenge for Pediatricians 45
Rapamycin promotes differentiation increasing beta III-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells 44
Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: Identification of 14 novel mutations in Italian patients 43
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia 42
Neurons other than motor neurons in motor neuron disease 41
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants 41
Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation Report on CFTR Mutations and Their Phenotypic Variability 40
Fibroblast expression profile analysis in the human progeroid syndrome (MAD) associated to LMNA mutations 39
Variations of Inflammatory Mediators and alpha(1)-Antitrypsin Levels after Lung Volume Reduction Surgery for Emphysema 38
Identification of sixteen novel candidate genes for late onset Parkinson's disease 37
Hyperproliferation in Nasal Polyposis Tissues Is Not Associated with Somatic Genomic Instability 36
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis 28
The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis 26
A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment 23
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies 22
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 18
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 18
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 18
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis 18
Interaction between miR-142-3p and BDNF Val/Met Polymorphism Regulates Multiple Sclerosis Severity 15
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 15
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 15
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 14
Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans 14
Totale 7.594
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Categoria #
all - tutte 42.350
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 42.350
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020830 0 0 0 0 0 0 211 184 132 106 101 96
2020/20211.576 61 160 248 126 105 153 133 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
2024/2025685 59 63 277 67 101 117 1 0 0 0 0 0
Totale 7.594