IRIS
GAGLIARDI, MONICA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 924
EU - Europa 476
AS - Asia 421
SA - Sud America 35
OC - Oceania 2
AF - Africa 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 1.860
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 905
SG - Singapore 317
IT - Italia 204
DE - Germania 60
GB - Regno Unito 55
CN - Cina 52
UA - Ucraina 43
BR - Brasile 33
SE - Svezia 32
FI - Finlandia 28
NL - Olanda 22
CA - Canada 17
HK - Hong Kong 13
FR - Francia 9
IN - India 7
AT - Austria 5
CZ - Repubblica Ceca 5
MY - Malesia 5
BD - Bangladesh 4
JP - Giappone 4
RO - Romania 4
EE - Estonia 3
IL - Israele 3
IQ - Iraq 3
AE - Emirati Arabi Uniti 2
ES - Italia 2
ID - Indonesia 2
IR - Iran 2
LU - Lussemburgo 2
MX - Messico 2
PL - Polonia 2
TR - Turchia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AU - Australia 1
PK - Pakistan 1
SA - Arabia Saudita 1
TO - Tonga 1
TW - Taiwan 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
VN - Vietnam 1
ZA - Sudafrica 1
Totale 1.860
Salva come PNG Salva come JPEG
Città #
Singapore 197
Santa Clara 123
Chandler 78
Chicago 60
London 48
Milan 48
Munich 38
Ashburn 37
Lawrence 34
Princeton 34
Turku 23
New York 22
Wilmington 18
Rome 15
Hong Kong 13
Secaucus 13
Buffalo 11
Des Moines 10
Los Angeles 10
The Dalles 9
Boardman 8
Catanzaro 8
Pasadena 8
Naples 7
San Francisco 7
Assago 6
Amsterdam 5
Boston 5
Casalnuovo Di Napoli 5
Columbus 5
Hanover 5
Helsinki 5
Jiaxing 5
Ottawa 5
Paris 5
San Nicola Manfredi 5
Shenzhen 5
Washington 5
Berlin 4
Bethesda 4
Brooklyn 4
Cetraro 4
Denver 4
Elk Grove Village 4
Guangzhou 4
Kuala Lumpur 4
Olomouc 4
São Paulo 4
Vallefiorita 4
Verona 4
Augusta 3
Brescia 3
Charlotte 3
Danvers 3
Locri 3
Miami 3
Osio Sotto 3
Pisa 3
Redmond 3
Rimini 3
Stockholm 3
Timisoara 3
Tokyo 3
Toronto 3
Volla 3
Aversa 2
Beijing 2
Bovisio-Masciago 2
Chennai 2
Cormons 2
Edgerton 2
Gatineau 2
Mendicino 2
Mexico City 2
Newcastle upon Tyne 2
Palo del Colle 2
Pesaro 2
Providence 2
Pétange 2
Redwood City 2
Rio Grande 2
San Jose 2
Semarang 2
Settingiano 2
Shanghai 2
Squillace 2
Treviso 2
Trieste 2
Turin 2
Vicopisano 2
Villeneuve-le-roi 2
Warsaw 2
Acton 1
Ad Dīwānīyah 1
Akron 1
Almont 1
Andover 1
Ankara 1
Araxá 1
Ardabil 1
Totale 1.100
Salva come PNG Salva come JPEG
Nome #
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2 73
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)) 64
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 59
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. 53
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 39
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation. 38
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 38
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant 37
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 36
Identification of one novel mutation in GRN gene associated with frontotemporal dementia 36
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 34
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 33
Effetti emoreologici di un farmaco antiipertensivo 33
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 32
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 32
Mutations in TMEM230 are not a common cause of Parkinson’s disease in southern Italy 30
A novel phenotype in an Italian family with a rare progranulin mutation 29
AKT1E17K is oncogenic in mouse lung and cooperates with chemical carcinogens in inducing lung cancer 28
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 28
Different neuropsychological profile in patients with primary familial brain calcification 28
Next-generation sequencing in multiple-system atrophy 28
ANXA1 mutation analysis in Italian patients with early onset PD 27
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 27
PCDH19 mutations in female patients from Southern Italy. 27
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 27
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 25
Analysis of the TMEM230 gene in patients with multiple system atrophy 25
A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy 25
ANXA1 mutation analysis in Italian patients with early onset PD 24
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 24
An italian family with Fahr disease caused by SLC20A2 new mutation 24
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 24
Focal neuromyotonia associated with a C9ORF72 expansion mutation 24
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 23
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 23
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 22
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 22
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery 22
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 22
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy 22
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 21
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 21
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 21
Ceruloplasmin gene variations in patients with different neurological diseases 21
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 21
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)) 20
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels 20
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 20
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 20
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 18
Association of Body Mass Index and Parkinson Disease 17
The P.A382T TARDBP gene mutation in patients affected by Parkinson's disease from Calabria 17
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 17
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 17
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 16
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 16
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 16
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 16
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 15
Analysis of the TMEM230 gene in patients with multiple system atrophy 15
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 14
Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease 14
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 14
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 13
Voxel-based morphometry to detect effect of APOE on brain gray matter changes in Parkinson's Disease 13
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 13
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 13
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 13
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by Fragile X Tremor Ataxia Syndrome 13
Mutational analysis of COASY in an Italian patient with NBIA 12
Polygenic burden in focal and generalized epilepsies 12
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 12
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 12
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 11
Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification 11
Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families 11
The role of common genetic variation in presumed monogenic epilepsies 11
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 10
PCDH19 mutations in female patients from southern Italy 10
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern ItalY 10
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 9
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 9
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 8
Genome-wide association meta-analyses of drug-resistant epilepsy 8
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 8
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 7
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 7
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation 6
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 5
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 4
Totale 1.945
Salva come PNG Salva come JPEG
Categoria #
all - tutte 26.424
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 26.424
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202156 2 3 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
2025/202641 41 0 0 0 0 0 0 0 0 0 0 0
Totale 1.945