IRIS
GAGLIARDI, MONICA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.361
AS - Asia 1.085
EU - Europa 583
SA - Sud America 239
AF - Africa 13
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.284
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.319
SG - Singapore 501
IT - Italia 233
CN - Cina 232
BR - Brasile 193
VN - Vietnam 143
IN - India 110
DE - Germania 84
GB - Regno Unito 63
UA - Ucraina 45
FI - Finlandia 37
HK - Hong Kong 37
SE - Svezia 33
CA - Canada 23
NL - Olanda 23
AR - Argentina 17
AT - Austria 13
FR - Francia 12
ID - Indonesia 11
BD - Bangladesh 10
MX - Messico 10
PY - Paraguay 9
EC - Ecuador 8
RU - Federazione Russa 8
PL - Polonia 7
ZA - Sudafrica 7
MY - Malesia 6
TR - Turchia 6
CZ - Repubblica Ceca 5
JP - Giappone 5
CO - Colombia 4
ES - Italia 4
IQ - Iraq 4
RO - Romania 4
SA - Arabia Saudita 4
UY - Uruguay 4
DO - Repubblica Dominicana 3
EE - Estonia 3
IL - Israele 3
PK - Pakistan 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
IR - Iran 2
LU - Lussemburgo 2
PE - Perù 2
PT - Portogallo 2
UZ - Uzbekistan 2
VE - Venezuela 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AO - Angola 1
AU - Australia 1
BB - Barbados 1
DM - Dominica 1
EG - Egitto 1
GR - Grecia 1
HU - Ungheria 1
JM - Giamaica 1
JO - Giordania 1
MA - Marocco 1
MD - Moldavia 1
NI - Nicaragua 1
PA - Panama 1
PR - Porto Rico 1
PS - Palestinian Territory 1
QA - Qatar 1
TO - Tonga 1
TW - Taiwan 1
Totale 3.284
Salva come PNG Salva come JPEG
Città #
Dallas 278
Singapore 216
Santa Clara 137
Bengaluru 96
Hefei 91
Ashburn 79
Chandler 78
Ho Chi Minh City 70
Chicago 61
Munich 54
Milan 49
London 48
Hong Kong 37
Beijing 34
Lawrence 34
Princeton 34
Turku 28
Hanoi 25
New York 24
Los Angeles 18
Wilmington 18
Rome 17
Boardman 13
Secaucus 13
Buffalo 12
São Paulo 12
Council Bluffs 10
Des Moines 10
Helsinki 9
San Francisco 9
The Dalles 9
Catanzaro 8
Naples 8
Pasadena 8
Biên Hòa 7
Boston 7
Amsterdam 6
Assago 6
Columbus 6
Haiphong 6
Paris 6
Warsaw 6
Brooklyn 5
Casalnuovo Di Napoli 5
Denver 5
Guarulhos 5
Hanover 5
Jiaxing 5
Kuala Lumpur 5
Montalto Uffugo 5
Ottawa 5
Pomigliano d'Arco 5
San Nicola Manfredi 5
Shenzhen 5
Washington 5
Asunción 4
Berlin 4
Bethesda 4
Campinas 4
Cetraro 4
Charlotte 4
Elk Grove Village 4
Guangzhou 4
Johannesburg 4
Montevideo 4
Montreal 4
New Delhi 4
Olomouc 4
Porto Alegre 4
Stockholm 4
São José do Rio Preto 4
Tokyo 4
Vallefiorita 4
Verona 4
Augusta 3
Belo Horizonte 3
Bragança Paulista 3
Brasília 3
Brescia 3
Chennai 3
Da Nang 3
Danvers 3
Dhaka 3
Jakarta 3
Locri 3
Mexico City 3
Miami 3
Osio Sotto 3
Pisa 3
Providence 3
Redmond 3
Rimini 3
Rio Grande 3
Santa Fe 3
Sumaré 3
Timisoara 3
Toronto 3
Volla 3
Angra dos Reis 2
Ankara 2
Totale 1.914
Salva come PNG Salva come JPEG
Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 89
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. 81
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2 80
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 74
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)) 73
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 67
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant 63
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 62
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 56
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery 53
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 51
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 50
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 50
AKT1E17K is oncogenic in mouse lung and cooperates with chemical carcinogens in inducing lung cancer 47
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 46
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 46
Identification of one novel mutation in GRN gene associated with frontotemporal dementia 46
A novel phenotype in an Italian family with a rare progranulin mutation 46
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 45
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 45
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation. 45
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 44
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 44
ANXA1 mutation analysis in Italian patients with early onset PD 43
Analysis of the TMEM230 gene in patients with multiple system atrophy 42
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 42
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 41
A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy 41
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 40
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 40
Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease 40
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 39
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 38
Effetti emoreologici di un farmaco antiipertensivo 38
ANXA1 mutation analysis in Italian patients with early onset PD 37
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 37
Analysis of the TMEM230 gene in patients with multiple system atrophy 37
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 36
Different neuropsychological profile in patients with primary familial brain calcification 35
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 34
Mutations in TMEM230 are not a common cause of Parkinson’s disease in southern Italy 34
Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification 34
Next-generation sequencing in multiple-system atrophy 34
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 33
Association of Body Mass Index and Parkinson Disease 33
Genome-wide association meta-analyses of drug-resistant epilepsy 33
An italian family with Fahr disease caused by SLC20A2 new mutation 33
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 33
Focal neuromyotonia associated with a C9ORF72 expansion mutation 33
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)) 32
PCDH19 mutations in female patients from Southern Italy. 32
Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families 32
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels 31
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 31
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 30
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 30
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 30
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 30
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 30
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 29
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 29
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy 29
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 29
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 28
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 26
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 26
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 26
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 25
PCDH19 mutations in female patients from southern Italy 25
Ceruloplasmin gene variations in patients with different neurological diseases 25
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 25
Voxel-based morphometry to detect effect of APOE on brain gray matter changes in Parkinson's Disease 24
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by Fragile X Tremor Ataxia Syndrome 24
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 23
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 23
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 23
Mutational analysis of COASY in an Italian patient with NBIA 22
The role of common genetic variation in presumed monogenic epilepsies 22
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 21
The P.A382T TARDBP gene mutation in patients affected by Parkinson's disease from Calabria 21
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 21
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 20
Polygenic burden in focal and generalized epilepsies 19
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 18
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 18
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 18
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 17
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 17
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 15
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 15
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern ItalY 14
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation 14
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 13
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 12
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 11
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 11
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification 9
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 8
MRI evidence of cerebellar vermian hypoplasia in a patient with cervical dystonia 7
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population 7
Totale 3.380
Salva come PNG Salva come JPEG
Categoria #
all - tutte 31.824
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 31.824
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202143 0 0 0 0 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
2025/20261.476 164 265 368 392 287 0 0 0 0 0 0 0
Totale 3.380