IRIS
GAGLIARDI, MONICA
 Distribuzione geografica
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Continente #
NA - Nord America 2.768
AS - Asia 1.492
EU - Europa 884
SA - Sud America 270
Continente sconosciuto - Info sul continente non disponibili 113
AF - Africa 37
OC - Oceania 3
Totale 5.567
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Nazione #
US - Stati Uniti d'America 2.609
SG - Singapore 626
IT - Italia 416
CN - Cina 331
BR - Brasile 210
VN - Vietnam 175
IN - India 121
DE - Germania 89
GB - Regno Unito 80
CA - Canada 70
HK - Hong Kong 62
BD - Bangladesh 55
UA - Ucraina 50
RU - Federazione Russa 45
FI - Finlandia 41
NL - Olanda 36
IL - Israele 35
SE - Svezia 34
AR - Argentina 23
FR - Francia 22
MX - Messico 17
HN - Honduras 15
AT - Austria 13
SC - Seychelles 13
ID - Indonesia 12
IQ - Iraq 11
ZA - Sudafrica 11
PY - Paraguay 10
SA - Arabia Saudita 10
ES - Italia 9
GT - Guatemala 9
JP - Giappone 9
PL - Polonia 9
SV - El Salvador 9
EC - Ecuador 8
CR - Costa Rica 7
MY - Malesia 7
PK - Pakistan 7
TR - Turchia 7
NI - Nicaragua 6
RO - Romania 6
TT - Trinidad e Tobago 6
CO - Colombia 5
CZ - Repubblica Ceca 5
JM - Giamaica 5
TN - Tunisia 5
AL - Albania 4
CW - ???statistics.table.value.countryCode.CW??? 4
PR - Porto Rico 4
UY - Uruguay 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
DO - Repubblica Dominicana 3
EE - Estonia 3
GP - Guadalupe 3
GR - Grecia 3
IE - Irlanda 3
JO - Giordania 3
LT - Lituania 3
PE - Perù 3
PT - Portogallo 3
UZ - Uzbekistan 3
AU - Australia 2
CL - Cile 2
DZ - Algeria 2
HU - Ungheria 2
IR - Iran 2
LB - Libano 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
BE - Belgio 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
BY - Bielorussia 1
CY - Cipro 1
DM - Dominica 1
EG - Egitto 1
ET - Etiopia 1
HR - Croazia 1
KH - Cambogia 1
KR - Corea 1
KZ - Kazakistan 1
LV - Lettonia 1
MD - Moldavia 1
MT - Malta 1
NG - Nigeria 1
OM - Oman 1
PH - Filippine 1
QA - Qatar 1
TO - Tonga 1
TW - Taiwan 1
Totale 5.459
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Città #
San Jose 496
Dallas 283
Ashburn 260
Singapore 248
Santa Clara 174
Council Bluffs 119
Bengaluru 96
Hefei 91
Chandler 78
Ho Chi Minh City 78
Chicago 77
Beijing 66
Milan 64
Hong Kong 58
Munich 54
London 50
Phoenix 43
New York 37
Princeton 37
Lawrence 34
Rome 34
Los Angeles 32
Hanoi 30
Turku 28
Wilmington 20
Buffalo 19
Montreal 17
Catanzaro 16
Naples 16
São Paulo 14
Amsterdam 13
Boardman 13
Helsinki 13
Secaucus 13
Des Moines 10
Boston 9
Chennai 9
Pasadena 9
San Francisco 9
The Dalles 9
Toronto 9
Biên Hòa 8
Columbus 8
Guatemala City 8
Mexico City 8
Ottawa 8
San Salvador 8
Shenzhen 8
Tokyo 8
Bari 7
Brooklyn 7
Haiphong 7
Miami 7
Assago 6
Baghdad 6
Denver 6
Guarulhos 6
Kuala Lumpur 6
Managua 6
New Delhi 6
Palermo 6
Paris 6
San Pedro Sula 6
Warsaw 6
Asunción 5
Atlanta 5
Casalnuovo Di Napoli 5
Charlotte 5
Da Nang 5
Guangzhou 5
Hanover 5
Houston 5
Jiaxing 5
Johannesburg 5
Montalto Uffugo 5
Orem 5
Pomigliano d'Arco 5
San Nicola Manfredi 5
Seattle 5
Stockholm 5
Tegucigalpa 5
Washington 5
Aversa 4
Belo Horizonte 4
Berlin 4
Bethesda 4
Brescia 4
Campinas 4
Cetraro 4
Elk Grove Village 4
Florence 4
Hải Dương 4
Jakarta 4
Messina 4
Montevideo 4
Newark 4
Olomouc 4
Porto Alegre 4
San José 4
Santa Fe 4
Totale 3.105
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Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 116
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant 108
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. 104
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery 98
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2 97
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 97
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 94
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 93
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)) 88
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 86
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 79
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 79
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 79
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 75
AKT1E17K is oncogenic in mouse lung and cooperates with chemical carcinogens in inducing lung cancer 74
A novel phenotype in an Italian family with a rare progranulin mutation 72
ANXA1 mutation analysis in Italian patients with early onset PD 71
Different neuropsychological profile in patients with primary familial brain calcification 71
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 70
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 69
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 68
ANXA1 mutation analysis in Italian patients with early onset PD 67
PCDH19 mutations in female patients from Southern Italy. 67
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 65
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 64
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 64
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 63
Genome-wide association meta-analyses of drug-resistant epilepsy 63
Analysis of the TMEM230 gene in patients with multiple system atrophy 63
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 63
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 62
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 61
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 60
A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy 59
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 58
Identification of one novel mutation in GRN gene associated with frontotemporal dementia 57
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 57
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)) 56
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 56
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 56
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 54
Effetti emoreologici di un farmaco antiipertensivo 53
Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease 53
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation. 52
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 51
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant 51
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 51
Association of Body Mass Index and Parkinson Disease 50
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 50
Analysis of the TMEM230 gene in patients with multiple system atrophy 50
PCDH19 mutations in female patients from southern Italy 49
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 49
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 49
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 47
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 47
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 47
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 47
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 46
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 46
Mutations in TMEM230 are not a common cause of Parkinson’s disease in southern Italy 46
An italian family with Fahr disease caused by SLC20A2 new mutation 46
Focal neuromyotonia associated with a C9ORF72 expansion mutation 46
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 45
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy 45
Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification 45
Next-generation sequencing in multiple-system atrophy 45
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 45
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels 44
Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families 44
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 44
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 43
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 43
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 41
Mutational analysis of COASY in an Italian patient with NBIA 41
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 41
The role of common genetic variation in presumed monogenic epilepsies 41
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 41
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by Fragile X Tremor Ataxia Syndrome 39
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 38
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 37
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 37
The P.A382T TARDBP gene mutation in patients affected by Parkinson's disease from Calabria 37
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation 37
Voxel-based morphometry to detect effect of APOE on brain gray matter changes in Parkinson's Disease 36
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 35
Ceruloplasmin gene variations in patients with different neurological diseases 35
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 34
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 34
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 33
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 33
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 33
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 33
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 32
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 31
Polygenic burden in focal and generalized epilepsies 31
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification 31
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 29
MRI evidence of cerebellar vermian hypoplasia in a patient with cervical dystonia 27
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern ItalY 26
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 25
Totale 5.440
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Categoria #
all - tutte 43.176
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 43.176
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022104 0 0 0 0 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
2025/20262.713 164 265 368 392 288 102 322 99 320 199 125 69
2026/2027950 31 178 292 291 158 0 0 0 0 0 0 0
Totale 5.567