IRIS
GAGLIARDI, MONICA
 Distribuzione geografica
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Continente #
NA - Nord America 767
EU - Europa 381
AS - Asia 314
SA - Sud America 5
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 1.469
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Nazione #
US - Stati Uniti d'America 759
SG - Singapore 227
IT - Italia 189
CN - Cina 52
GB - Regno Unito 47
UA - Ucraina 42
SE - Svezia 29
DE - Germania 25
NL - Olanda 22
HK - Hong Kong 12
CA - Canada 8
FR - Francia 8
IN - India 5
MY - Malesia 5
BR - Brasile 4
FI - Finlandia 4
RO - Romania 4
CZ - Repubblica Ceca 3
EE - Estonia 3
AE - Emirati Arabi Uniti 2
AT - Austria 2
ID - Indonesia 2
IL - Israele 2
IR - Iran 2
JP - Giappone 2
LU - Lussemburgo 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AU - Australia 1
ES - Italia 1
PK - Pakistan 1
TR - Turchia 1
TW - Taiwan 1
VE - Venezuela 1
Totale 1.469
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Città #
Santa Clara 108
Singapore 107
Chandler 78
Chicago 53
Milan 46
London 45
Lawrence 34
Princeton 34
Ashburn 29
New York 18
Wilmington 18
Rome 15
Hong Kong 12
Buffalo 10
Des Moines 10
Boardman 8
Catanzaro 8
Pasadena 8
Secaucus 8
Assago 6
Naples 6
Amsterdam 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
Elk Grove Village 4
Guangzhou 4
Helsinki 4
Kuala Lumpur 4
Vallefiorita 4
Brescia 3
Danvers 3
Locri 3
Munich 3
Osio Sotto 3
Pisa 3
Redmond 3
Rimini 3
The Dalles 3
Timisoara 3
Aversa 2
Beijing 2
Bovisio-Masciago 2
Cormons 2
Edgerton 2
Gatineau 2
Los Angeles 2
Mendicino 2
Newcastle upon Tyne 2
Olomouc 2
Palo del Colle 2
Pesaro 2
Pétange 2
Redwood City 2
Semarang 2
Settingiano 2
Shanghai 2
Squillace 2
Treviso 2
Trieste 2
Turin 2
Verona 2
Vicopisano 2
Villeneuve-le-roi 2
Acton 1
Akron 1
Andover 1
Ardabil 1
Augusta 1
Baden 1
Bucharest 1
Cambridge 1
Castrop-rauxel 1
Cernusco sul Naviglio 1
Chieti 1
Coccaglio 1
Cosenza 1
Dongyang 1
Duncan 1
East Elmhurst 1
Firmo 1
Foshan 1
Gainesville 1
Hefei 1
Houston 1
Ipoh 1
Irvington 1
Kawasaki 1
Lamezia Terme 1
Manchester 1
Mazara del Vallo 1
Messina 1
Totale 844
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Nome #
Neuropsychological heterogeneity in patients with primary familial brain calcification due to a novel mutation in SLC20A2 70
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)) 56
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 48
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification. 41
Identification of one novel mutation in GRN gene associated with frontotemporal dementia 35
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation. 35
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 32
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 29
Effetti emoreologici di un farmaco antiipertensivo 29
Mutations in TMEM230 are not a common cause of Parkinson’s disease in southern Italy 29
Next-generation sequencing in multiple-system atrophy 28
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 27
Different neuropsychological profile in patients with primary familial brain calcification 27
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 26
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 26
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant 25
PCDH19 mutations in female patients from Southern Italy. 25
A novel phenotype in an Italian family with a rare progranulin mutation 24
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 24
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 23
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 23
An italian family with Fahr disease caused by SLC20A2 new mutation 22
AKT1E17K is oncogenic in mouse lung and cooperates with chemical carcinogens in inducing lung cancer 21
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 21
A new CHCHD2 mutation identified in a southern Italy patient with multiple system atrophy 21
ANXA1 mutation analysis in Italian patients with early onset PD 20
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 20
Ceruloplasmin gene variations in patients with different neurological diseases 20
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 20
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 19
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 19
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy 19
Analysis of the TMEM230 gene in patients with multiple system atrophy 18
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 18
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 18
Focal neuromyotonia associated with a C9ORF72 expansion mutation 18
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 18
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels 17
ANXA1 mutation analysis in Italian patients with early onset PD 17
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 17
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 17
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 17
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 17
The P.A382T TARDBP gene mutation in patients affected by Parkinson's disease from Calabria 16
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 16
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 16
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)) 15
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 15
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 15
Association of Body Mass Index and Parkinson Disease 14
Modeling Sporadic Progressive Supranuclear Palsy in 3D Midbrain Organoids: Recapitulating Disease Features for In Vitro Diagnosis and Drug Discovery 14
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 14
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 14
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 13
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 13
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 12
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 12
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by Fragile X Tremor Ataxia Syndrome 12
Analysis of the TMEM230 gene in patients with multiple system atrophy 12
Polygenic burden in focal and generalized epilepsies 12
Voxel-based morphometry to detect effect of APOE on brain gray matter changes in Parkinson's Disease 11
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 11
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 11
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 11
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 11
Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease 11
Mutational analysis of COASY in an Italian patient with NBIA 10
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 10
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 10
Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification 10
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 10
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern ItalY 9
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 9
Dentatorubral-pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families 8
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 7
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 7
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 7
Hereditary Spastic Paraplegia Associated with Ultra-Rare Variant Enrichment Encompassing the SYNE1, CAPN1 and PGAP1 Genes 7
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 7
PCDH19 mutations in female patients from southern Italy 7
The role of common genetic variation in presumed monogenic epilepsies 6
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 6
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 5
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 5
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 4
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 4
FTH1P3, a Novel H-Ferritin Pseudogene Transcriptionally Active, Is Ubiquitously Expressed and Regulated during Cell Differentiation 4
Totale 1.549
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Categoria #
all - tutte 21.280
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 21.280
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202016 0 0 0 0 0 0 0 0 0 0 7 9
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
2024/2025675 102 45 33 63 58 130 54 59 104 27 0 0
Totale 1.549