IRIS
GAMBARDELLA, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 4.508
EU - Europa 1.487
AS - Asia 670
OC - Oceania 14
SA - Sud America 14
AF - Africa 7
Continente sconosciuto - Info sul continente non disponibili 7
Totale 6.707
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Nazione #
US - Stati Uniti d'America 4.490
UA - Ucraina 463
CN - Cina 434
IT - Italia 275
SE - Svezia 194
IE - Irlanda 141
DE - Germania 136
TR - Turchia 135
FI - Finlandia 122
GB - Regno Unito 85
FR - Francia 34
IN - India 29
VN - Vietnam 22
CA - Canada 17
BE - Belgio 15
KR - Corea 15
AU - Australia 13
PK - Pakistan 12
SG - Singapore 8
EU - Europa 7
AR - Argentina 6
ID - Indonesia 4
JP - Giappone 4
RU - Federazione Russa 4
BR - Brasile 3
CL - Cile 2
EG - Egitto 2
IL - Israele 2
NL - Olanda 2
PL - Polonia 2
RO - Romania 2
TN - Tunisia 2
AE - Emirati Arabi Uniti 1
BO - Bolivia 1
EC - Ecuador 1
EE - Estonia 1
ES - Italia 1
GR - Grecia 1
HK - Hong Kong 1
HR - Croazia 1
HU - Ungheria 1
IM - Isola di Man 1
JM - Giamaica 1
KE - Kenya 1
LT - Lituania 1
MA - Marocco 1
ME - Montenegro 1
MK - Macedonia 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PE - Perù 1
PT - Portogallo 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
SL - Sierra Leone 1
TW - Taiwan 1
Totale 6.707
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Città #
Fairfield 928
Woodbridge 447
Ashburn 423
Jacksonville 378
Seattle 368
Cambridge 347
Wilmington 334
Houston 318
Chandler 184
Dublin 140
Izmir 122
Helsinki 119
Nanjing 116
Ann Arbor 114
New York 90
Bremen 78
Princeton 78
Nanchang 42
Urbino 41
San Diego 40
Hebei 35
Shenyang 35
Beijing 29
Jinan 29
Jiaxing 28
London 26
Changsha 23
Dong Ket 22
Tianjin 22
Dearborn 15
Brussels 14
Seongnam 14
Norwalk 13
Toronto 13
Caserta 12
Rome 12
Ningbo 11
Hangzhou 9
Paris 9
Ancona 8
San Francisco 8
Acton 7
Frankfurt am Main 7
Melbourne 7
Monterotondo 7
Chelles 6
Chengdu 6
Chiswick 6
Lanzhou 6
Milan 6
Mülheim 6
Redwood City 6
Romainville 6
Southwark 6
Kilburn 5
Lahore 5
Portland 5
Taizhou 5
Amantea 4
Buenos Aires 4
Canberra 4
Istanbul 4
Prescot 4
Zhengzhou 4
Chicago 3
Cosenza 3
Guangzhou 3
Hounslow 3
New Bedfont 3
Osimo 3
Porto 3
Pune 3
Serra 3
Surabaya 3
Tappahannock 3
Teramo 3
Al Qahirah al Jadidah 2
Alghero 2
Bari 2
Borås 2
Castelplanio 2
Cerreto Guidi 2
Civitanova Marche 2
Fano 2
Gunzenhausen 2
Haikou 2
Hefei 2
Hyvinkää 2
Islington 2
Jesi 2
Kanazawa 2
Kocaeli 2
Las Vegas 2
Los Angeles 2
Macerata 2
Naples 2
Ravenna 2
Stockholm 2
Suri 2
Sydney 2
Totale 5.304
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Nome #
Methamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neurons 173
ccf-mtDNA as a Potential Link Between the Brain and Immune System in Neuro-Immunological Disorders 172
Using global team science to identify genetic parkinson's disease worldwide. 163
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 4 149
Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease 146
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease 144
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease 132
Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease" 130
Ambiguous Effects of Autophagy Activation Following Hypoperfusion/Ischemia 128
Denaturing HPLC in laboratory diagnosis of hereditary angioedema 128
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study 127
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity 123
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities 121
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy 119
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era 119
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease 117
Circulating miR-127-3p as a Potential Biomarker for Differential Diagnosis in Frontotemporal Dementia 114
Chronic pancreatitis: A case of incomplete penetrance in two carriers of CFTR and PRSS1 mutations 114
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 114
Epigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative Stress 112
Corticosterone Upregulates Gene and Protein Expression of Catecholamine Markers in Organotypic Brainstem Cultures 110
Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion 105
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings 105
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism 104
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect 102
A Focus on the Beneficial Effects of Alpha Synuclein and a Re-Appraisal of Synucleinopathies 102
A Novel ATP1A2 Gene Variant Associated With Pure Sporadic Hemiplegic Migraine Improved After Patent Foramen Ovale Closure: A Case Report 100
The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions 98
Gene expression analysis in myotonic dystrophy: Indications for a common molecular pathogenic pathway in DM1 and DM2 98
Interdependency Between Autophagy and Synaptic Vesicle Trafficking: Implications for Dopamine Release 97
mTOR-Dependent Cell Proliferation in the Brain 97
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B*57:01 96
Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas 94
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 94
Gonadal mosaicism in hereditary angioedema 94
Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report 92
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 92
Four copies of SNCA responsible of autosomal dominant Parkinson's disease in two Italian siblings 92
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 92
Gene expression profile study in CFTR mutated bronchial cell lines 91
Gene expression profiling of fibroblasts from a human progeroid disease (Mandibuloacral dysplasia, MAD #248370) through cDNA microarrays 91
Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers 91
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis? 90
The dark side of histones: genomic organization and role of oncohistones in cancer 90
Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome 89
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset 88
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens 87
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) 80
Toward the pharmacogenomics of cystic fibrosis - an update 79
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 78
Revisiting the gamma loop in ALS 71
TREM Receptors Connecting Bowel Inflammation to Neurodegenerative Disorders 70
Quantitative Ultrastructural Morphometry and Gene Expression of mTOR-Related Mitochondriogenesis within Glioblastoma Cells 60
Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies 60
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers 59
Next Generation Sequencing and ALS: known genes, different phenotyphes 57
An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease 56
Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the art 48
Gene symbol: ED1. Disease: Ectodermal dysplasia 48
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations 48
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) 46
Gene symbol: ED1. Disease: Ectodermal dysplasia 46
Rapamycin Ameliorates Defects in Mitochondrial Fission and Mitophagy in Glioblastoma Cells 46
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 45
Methamphetamine increases Prion Protein and induces dopamine-dependent expression of protease resistant PrPsc 43
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants 43
The Etiology of Acute Recurrent Pancreatitis in Children A Challenge for Pediatricians 42
Rapamycin promotes differentiation increasing beta III-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cells 40
Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia 39
Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: Identification of 14 novel mutations in Italian patients 39
Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders 39
Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation Report on CFTR Mutations and Their Phenotypic Variability 37
Neurons other than motor neurons in motor neuron disease 36
Small molecule-induced epigenomic reprogramming of APL blasts leading to antiviral-like response and c-MYC downregulation 35
Fibroblast expression profile analysis in the human progeroid syndrome (MAD) associated to LMNA mutations 35
Variations of Inflammatory Mediators and alpha(1)-Antitrypsin Levels after Lung Volume Reduction Surgery for Emphysema 34
Hyperproliferation in Nasal Polyposis Tissues Is Not Associated with Somatic Genomic Instability 32
Identification of sixteen novel candidate genes for late onset Parkinson's disease 30
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants 28
The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis 16
A Single Nucleotide ADA Genetic Variant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment 15
Genetic regulation of IL-8 influences disease presentation of multiple sclerosis 13
Functional analysis of a conserved site mutation in the DNA end processing enzyme PNKP leading to ataxia with oculomotor apraxia type 4 in humans 8
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 8
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies 8
Interleukin 6 SNP rs1818879 Regulates Radiological and Inflammatory Activity in Multiple Sclerosis 8
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 7
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 7
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 5
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 3
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 1
Totale 6.874
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Categoria #
all - tutte 33.054
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 33.054
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019452 0 0 0 0 0 0 0 0 0 0 176 276
2019/20202.454 391 134 189 594 128 188 211 184 132 106 101 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
2023/2024329 32 24 33 54 22 125 14 12 1 12 0 0
Totale 6.874