IRIS
GAGLIARDI, MONICA
 Distribuzione geografica
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Continente #
NA - Nord America 2.077
AS - Asia 1.421
EU - Europa 721
SA - Sud America 266
AF - Africa 22
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.511
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Nazione #
US - Stati Uniti d'America 2.012
SG - Singapore 617
IT - Italia 317
CN - Cina 314
BR - Brasile 208
VN - Vietnam 175
IN - India 121
DE - Germania 87
GB - Regno Unito 72
HK - Hong Kong 54
BD - Bangladesh 53
UA - Ucraina 46
FI - Finlandia 41
CA - Canada 36
SE - Svezia 34
NL - Olanda 32
AR - Argentina 23
FR - Francia 18
MX - Messico 17
AT - Austria 13
ID - Indonesia 11
IQ - Iraq 11
PY - Paraguay 10
RU - Federazione Russa 10
SA - Arabia Saudita 10
ZA - Sudafrica 10
EC - Ecuador 8
PL - Polonia 8
JP - Giappone 7
MY - Malesia 7
PK - Pakistan 7
TR - Turchia 7
ES - Italia 6
CO - Colombia 5
CZ - Repubblica Ceca 5
RO - Romania 5
TN - Tunisia 5
AL - Albania 4
IL - Israele 4
UY - Uruguay 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
DO - Repubblica Dominicana 3
EE - Estonia 3
GR - Grecia 3
IE - Irlanda 3
JO - Giordania 3
PE - Perù 3
PT - Portogallo 3
UZ - Uzbekistan 3
AU - Australia 2
DZ - Algeria 2
HU - Ungheria 2
IR - Iran 2
JM - Giamaica 2
LB - Libano 2
LT - Lituania 2
LU - Lussemburgo 2
MA - Marocco 2
PA - Panama 2
PS - Palestinian Territory 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AO - Angola 1
BB - Barbados 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CL - Cile 1
CY - Cipro 1
DM - Dominica 1
EG - Egitto 1
ET - Etiopia 1
HN - Honduras 1
HR - Croazia 1
KH - Cambogia 1
KZ - Kazakistan 1
LV - Lettonia 1
MD - Moldavia 1
MT - Malta 1
NI - Nicaragua 1
OM - Oman 1
PH - Filippine 1
PR - Porto Rico 1
QA - Qatar 1
TO - Tonga 1
TW - Taiwan 1
Totale 4.511
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Città #
San Jose 422
Dallas 278
Singapore 242
Ashburn 215
Santa Clara 149
Bengaluru 96
Hefei 91
Chandler 78
Ho Chi Minh City 78
Chicago 70
Beijing 57
Milan 56
Munich 54
Hong Kong 53
London 50
Lawrence 34
Princeton 34
Hanoi 30
New York 30
Turku 28
Los Angeles 25
Rome 24
Wilmington 18
Buffalo 16
Council Bluffs 14
Boardman 13
Helsinki 13
Secaucus 13
Catanzaro 12
São Paulo 12
Amsterdam 11
Des Moines 10
Naples 10
Chennai 9
Pasadena 9
San Francisco 9
The Dalles 9
Biên Hòa 8
Mexico City 8
Montreal 8
Shenzhen 8
Boston 7
Haiphong 7
Assago 6
Baghdad 6
Bari 6
Columbus 6
Guarulhos 6
Kuala Lumpur 6
New Delhi 6
Paris 6
Tokyo 6
Toronto 6
Warsaw 6
Asunción 5
Brooklyn 5
Casalnuovo Di Napoli 5
Da Nang 5
Denver 5
Guangzhou 5
Hanover 5
Jiaxing 5
Johannesburg 5
Miami 5
Montalto Uffugo 5
Orem 5
Ottawa 5
Pomigliano d'Arco 5
San Nicola Manfredi 5
Stockholm 5
Washington 5
Belo Horizonte 4
Berlin 4
Bethesda 4
Campinas 4
Cetraro 4
Charlotte 4
Elk Grove Village 4
Hải Dương 4
Messina 4
Montevideo 4
Olomouc 4
Porto Alegre 4
Santa Fe 4
São José do Rio Preto 4
Vallefiorita 4
Verona 4
Amman 3
Augusta 3
Aversa 3
Bragança Paulista 3
Brasília 3
Brescia 3
Bình Dương 3
Bắc Giang 3
City of London 3
Cosenza 3
Danvers 3
Dhaka 3
Dublin 3
Totale 2.672
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Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 104
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. 94
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant 91
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2 91
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 89
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery 84
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 84
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 84
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 83
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 73
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 67
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 65
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 64
AKT1E17K is oncogenic in mouse lung and cooperates with chemical carcinogens in inducing lung cancer 61
ANXA1 mutation analysis in Italian patients with early onset PD 61
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 61
A novel phenotype in an Italian family with a rare progranulin mutation 61
ANXA1 mutation analysis in Italian patients with early onset PD 60
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 58
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 58
PCDH19 mutations in female patients from Southern Italy. 57
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 56
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 55
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 55
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 54
Genome-wide association meta-analyses of drug-resistant epilepsy 54
Analysis of the TMEM230 gene in patients with multiple system atrophy 54
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 53
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 53
A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy 53
Identification of one novel mutation in GRN gene associated with frontotemporal dementia 53
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 52
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 52
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 51
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 51
Corrigendum to “A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy” [J. Neurol. Sci. 381C (2017) 209–212] (S0022510X17337528) (10.1016/j.jns.2017.08.3260)) 48
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation. 48
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 47
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 47
Analysis of the TMEM230 gene in patients with multiple system atrophy 46
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 45
Different neuropsychological profile in patients with primary familial brain calcification 45
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 45
Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease 45
Association of Body Mass Index and Parkinson Disease 44
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 44
Effetti emoreologici di un farmaco antiipertensivo 44
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 43
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 43
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 43
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 43
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 41
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 41
Focal neuromyotonia associated with a C9ORF72 expansion mutation 41
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 41
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 41
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 40
Mutations in TMEM230 are not a common cause of Parkinson’s disease in southern Italy 40
An italian family with Fahr disease caused by SLC20A2 new mutation 40
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels 39
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy 39
Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families 39
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 39
Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification 38
Next-generation sequencing in multiple-system atrophy 38
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 37
PCDH19 mutations in female patients from southern Italy 37
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 37
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 37
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 36
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 36
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 35
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 34
Mutational analysis of COASY in an Italian patient with NBIA 34
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 33
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by Fragile X Tremor Ataxia Syndrome 33
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 31
The P.A382T TARDBP gene mutation in patients affected by Parkinson's disease from Calabria 30
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation 30
Voxel-based morphometry to detect effect of APOE on brain gray matter changes in Parkinson's Disease 29
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 29
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 29
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 29
Ceruloplasmin gene variations in patients with different neurological diseases 29
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 29
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 28
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 28
The role of common genetic variation in presumed monogenic epilepsies 28
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 27
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 27
Polygenic burden in focal and generalized epilepsies 26
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 25
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 23
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern ItalY 22
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification 22
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 21
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 21
MRI evidence of cerebellar vermian hypoplasia in a patient with cervical dystonia 20
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 20
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant 20
Totale 4.585
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Categoria #
all - tutte 36.887
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 36.887
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212 0 0 0 0 0 0 0 0 0 0 0 2
2021/2022134 4 1 2 23 11 0 2 27 37 6 19 2
2022/2023357 68 11 7 22 30 67 13 27 42 20 37 13
2023/2024305 68 42 26 27 25 68 6 3 0 1 16 23
2024/20251.030 102 45 33 63 58 130 54 59 104 27 122 233
2025/20262.708 164 265 368 392 288 102 322 99 320 199 125 64
Totale 4.612