IRIS
GAGLIARDI, MONICA
 Distribuzione geografica
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Continente #
NA - Nord America 1.969
AS - Asia 1.344
EU - Europa 666
SA - Sud America 266
AF - Africa 22
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.271
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Nazione #
US - Stati Uniti d'America 1.915
SG - Singapore 608
CN - Cina 287
IT - Italia 263
BR - Brasile 208
VN - Vietnam 175
IN - India 120
DE - Germania 87
GB - Regno Unito 72
HK - Hong Kong 52
UA - Ucraina 46
FI - Finlandia 41
SE - Svezia 34
NL - Olanda 31
CA - Canada 29
AR - Argentina 23
FR - Francia 18
BD - Bangladesh 15
MX - Messico 14
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
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
PA - Panama 1
PH - Filippine 1
PR - Porto Rico 1
QA - Qatar 1
TO - Tonga 1
TW - Taiwan 1
Totale 4.271
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Città #
San Jose 379
Dallas 278
Singapore 235
Ashburn 212
Santa Clara 143
Bengaluru 96
Hefei 91
Chandler 78
Ho Chi Minh City 78
Chicago 68
Milan 55
Munich 54
Hong Kong 51
London 50
Beijing 42
Lawrence 34
Princeton 34
Hanoi 30
Turku 28
New York 27
Los Angeles 22
Rome 19
Wilmington 18
Council Bluffs 14
Boardman 13
Buffalo 13
Helsinki 13
Secaucus 13
São Paulo 12
Amsterdam 11
Des Moines 10
Chennai 9
San Francisco 9
The Dalles 9
Biên Hòa 8
Catanzaro 8
Naples 8
Pasadena 8
Boston 7
Haiphong 7
Assago 6
Baghdad 6
Columbus 6
Guarulhos 6
Kuala Lumpur 6
Montreal 6
Paris 6
Tokyo 6
Warsaw 6
Asunción 5
Brooklyn 5
Casalnuovo Di Napoli 5
Da Nang 5
Denver 5
Guangzhou 5
Hanover 5
Jiaxing 5
Johannesburg 5
Mexico City 5
Montalto Uffugo 5
New Delhi 5
Orem 5
Ottawa 5
Pomigliano d'Arco 5
San Nicola Manfredi 5
Shenzhen 5
Stockholm 5
Washington 5
Bari 4
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
Toronto 4
Vallefiorita 4
Verona 4
Amman 3
Augusta 3
Bragança Paulista 3
Brasília 3
Brescia 3
Bình Dương 3
Bắc Giang 3
City of London 3
Danvers 3
Dhaka 3
Dublin 3
Frankfurt am Main 3
Jakarta 3
Jeddah 3
Totale 2.557
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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. 92
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2 89
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 88
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
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 81
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 81
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant 76
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 72
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery 69
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 65
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 63
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 62
ANXA1 mutation analysis in Italian patients with early onset PD 59
AKT1E17K is oncogenic in mouse lung and cooperates with chemical carcinogens in inducing lung cancer 59
A novel phenotype in an Italian family with a rare progranulin mutation 59
ANXA1 mutation analysis in Italian patients with early onset PD 58
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 57
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 56
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 54
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 54
Identification of one novel mutation in GRN gene associated with frontotemporal dementia 53
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 52
Analysis of the TMEM230 gene in patients with multiple system atrophy 52
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 51
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 51
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 51
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 50
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 50
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 50
A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy 50
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation. 48
Genome-wide association meta-analyses of drug-resistant epilepsy 46
Analysis of the TMEM230 gene in patients with multiple system atrophy 46
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)) 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
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 44
Effetti emoreologici di un farmaco antiipertensivo 44
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 43
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 43
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 42
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 41
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 41
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 41
Focal neuromyotonia associated with a C9ORF72 expansion mutation 41
Association of Body Mass Index and Parkinson Disease 40
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 40
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 40
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 40
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 40
PCDH19 mutations in female patients from Southern Italy. 39
Mutations in TMEM230 are not a common cause of Parkinson’s disease in southern Italy 39
An italian family with Fahr disease caused by SLC20A2 new mutation 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
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels 38
Next-generation sequencing in multiple-system atrophy 38
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 37
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 37
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy 37
Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification 37
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 37
PCDH19 mutations in female patients from southern Italy 36
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 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
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 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
Mutational analysis of COASY in an Italian patient with NBIA 32
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 31
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 31
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 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
The P.A382T TARDBP gene mutation 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
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 28
The role of common genetic variation in presumed monogenic epilepsies 27
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation 27
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 26
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
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 24
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 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
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 22
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 21
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 21
MRI evidence of cerebellar vermian hypoplasia in a patient with cervical dystonia 20
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 19
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 18
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population 13
Totale 4.359
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Categoria #
all - tutte 34.046
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 34.046
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20219 0 0 0 0 0 0 0 0 0 6 1 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
2025/20262.464 164 265 368 392 288 102 322 99 320 144 0 0
Totale 4.368