IRIS
GAGLIARDI, MONICA
 Distribuzione geografica
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Continente #
NA - Nord America 1.103
AS - Asia 574
EU - Europa 518
SA - Sud America 67
AF - Africa 5
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.270
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Nazione #
US - Stati Uniti d'America 1.073
SG - Singapore 344
IT - Italia 212
CN - Cina 143
DE - Germania 76
GB - Regno Unito 62
BR - Brasile 61
UA - Ucraina 43
SE - Svezia 33
FI - Finlandia 31
HK - Hong Kong 28
CA - Canada 22
NL - Olanda 22
IN - India 12
FR - Francia 10
VN - Vietnam 7
BD - Bangladesh 6
AT - Austria 5
CZ - Repubblica Ceca 5
MX - Messico 5
MY - Malesia 5
PL - Polonia 5
TR - Turchia 5
IQ - Iraq 4
JP - Giappone 4
RO - Romania 4
ZA - Sudafrica 4
EE - Estonia 3
ES - Italia 3
IL - Israele 3
AE - Emirati Arabi Uniti 2
EC - Ecuador 2
ID - Indonesia 2
IR - Iran 2
LU - Lussemburgo 2
PK - Pakistan 2
SA - Arabia Saudita 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AR - Argentina 1
AU - Australia 1
BB - Barbados 1
CO - Colombia 1
DM - Dominica 1
JM - Giamaica 1
JO - Giordania 1
PT - Portogallo 1
TN - Tunisia 1
TO - Tonga 1
TW - Taiwan 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 2.270
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Città #
Singapore 208
Santa Clara 136
Hefei 91
Dallas 83
Chandler 78
Ashburn 62
Chicago 61
Munich 54
London 48
Milan 48
Lawrence 34
Princeton 34
Hong Kong 28
Turku 25
New York 23
Wilmington 18
Rome 16
Los Angeles 14
Boardman 13
Secaucus 13
Buffalo 11
Des Moines 10
The Dalles 9
Catanzaro 8
Naples 8
Pasadena 8
San Francisco 8
Boston 7
Assago 6
Columbus 6
Helsinki 6
São Paulo 6
Amsterdam 5
Brooklyn 5
Casalnuovo Di Napoli 5
Hanover 5
Jiaxing 5
Ottawa 5
Paris 5
San Nicola Manfredi 5
Shenzhen 5
Washington 5
Berlin 4
Bethesda 4
Cetraro 4
Charlotte 4
Denver 4
Elk Grove Village 4
Guangzhou 4
Ho Chi Minh City 4
Kuala Lumpur 4
Montreal 4
Olomouc 4
Stockholm 4
Vallefiorita 4
Verona 4
Warsaw 4
Augusta 3
Brescia 3
Chennai 3
Danvers 3
Guarulhos 3
Johannesburg 3
Locri 3
Mexico City 3
Miami 3
Osio Sotto 3
Pisa 3
Providence 3
Redmond 3
Rimini 3
Timisoara 3
Tokyo 3
Toronto 3
Volla 3
Aversa 2
Beijing 2
Belo Horizonte 2
Bovisio-Masciago 2
Brasília 2
Calgary 2
Carney 2
Cormons 2
Council Bluffs 2
Edgerton 2
Florence 2
Gatineau 2
Hanoi 2
Manchester 2
Mendicino 2
Messina 2
New Delhi 2
Newcastle upon Tyne 2
Palo del Colle 2
Pesaro 2
Porto Alegre 2
Pétange 2
Redwood City 2
Rio Grande 2
San Jose 2
Totale 1.394
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Nome #
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2 77
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)) 67
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. 65
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 62
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 46
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 45
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant 43
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation. 43
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 41
Identification of one novel mutation in GRN gene associated with frontotemporal dementia 40
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 40
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 39
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 39
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 38
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 36
ANXA1 mutation analysis in Italian patients with early onset PD 35
Effetti emoreologici di un farmaco antiipertensivo 35
A novel phenotype in an Italian family with a rare progranulin mutation 35
A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy 34
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 33
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 33
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 32
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 32
AKT1E17K is oncogenic in mouse lung and cooperates with chemical carcinogens in inducing lung cancer 31
Mutations in TMEM230 are not a common cause of Parkinson’s disease in southern Italy 31
Next-generation sequencing in multiple-system atrophy 31
Analysis of the TMEM230 gene in patients with multiple system atrophy 30
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 30
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 30
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 30
Different neuropsychological profile in patients with primary familial brain calcification 30
ANXA1 mutation analysis in Italian patients with early onset PD 29
PCDH19 mutations in female patients from Southern Italy. 28
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 28
Focal neuromyotonia associated with a C9ORF72 expansion mutation 28
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 27
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery 27
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 27
An italian family with Fahr disease caused by SLC20A2 new mutation 27
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels 26
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 26
Association of Body Mass Index and Parkinson Disease 25
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy 25
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)) 24
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 24
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 24
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 24
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 24
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 24
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 24
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 23
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 22
Ceruloplasmin gene variations in patients with different neurological diseases 22
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 21
Analysis of the TMEM230 gene in patients with multiple system atrophy 21
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 21
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 20
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 20
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 19
The P.A382T TARDBP gene mutation in patients affected by Parkinson's disease from Calabria 19
Voxel-based morphometry to detect effect of APOE on brain gray matter changes in Parkinson's Disease 18
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 18
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 18
Mutational analysis of COASY in an Italian patient with NBIA 17
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 17
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by Fragile X Tremor Ataxia Syndrome 17
Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease 17
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 17
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 16
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 16
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 16
Polygenic burden in focal and generalized epilepsies 16
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 15
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 15
PCDH19 mutations in female patients from southern Italy 15
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 15
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 14
The role of common genetic variation in presumed monogenic epilepsies 14
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 13
Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification 13
Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families 13
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 12
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 12
Genome-wide association meta-analyses of drug-resistant epilepsy 12
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 11
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern ItalY 11
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 11
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 10
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation 8
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 6
Totale 2.355
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Categoria #
all - tutte 28.511
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 28.511
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202151 0 0 2 6 9 4 4 10 7 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
2025/2026451 164 265 22 0 0 0 0 0 0 0 0 0
Totale 2.355