IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.174
AS - Asia 817
EU - Europa 400
SA - Sud America 132
AF - Africa 14
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 2.542
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Nazione #
US - Stati Uniti d'America 1.151
SG - Singapore 385
CN - Cina 161
IT - Italia 149
BR - Brasile 102
VN - Vietnam 93
IN - India 75
DE - Germania 64
GB - Regno Unito 50
HK - Hong Kong 42
FI - Finlandia 31
NL - Olanda 24
FR - Francia 15
AR - Argentina 12
CA - Canada 12
IQ - Iraq 11
SE - Svezia 11
BD - Bangladesh 10
AT - Austria 8
UA - Ucraina 8
PK - Pakistan 7
RU - Federazione Russa 7
ZA - Sudafrica 7
PL - Polonia 6
SA - Arabia Saudita 6
ES - Italia 5
JP - Giappone 4
MX - Messico 4
PY - Paraguay 4
TR - Turchia 4
VE - Venezuela 4
AL - Albania 3
EC - Ecuador 3
EE - Estonia 3
UZ - Uzbekistan 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AE - Emirati Arabi Uniti 2
AU - Australia 2
CO - Colombia 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
GR - Grecia 2
ID - Indonesia 2
IE - Irlanda 2
IL - Israele 2
LB - Libano 2
LU - Lussemburgo 2
MA - Marocco 2
PE - Perù 2
PT - Portogallo 2
RO - Romania 2
UY - Uruguay 2
AO - Angola 1
BB - Barbados 1
CL - Cile 1
CY - Cipro 1
DM - Dominica 1
EG - Egitto 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IR - Iran 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
MT - Malta 1
PA - Panama 1
PH - Filippine 1
TN - Tunisia 1
TO - Tonga 1
TW - Taiwan 1
Totale 2.542
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Città #
San Jose 231
Dallas 205
Singapore 162
Ashburn 142
Santa Clara 78
Bengaluru 56
Hefei 52
Ho Chi Minh City 42
Hong Kong 42
Chicago 40
Munich 40
London 37
Milan 27
Beijing 25
Turku 22
Los Angeles 19
Hanoi 17
Council Bluffs 12
Buffalo 11
Lawrence 10
New York 10
Princeton 10
Rome 10
The Dalles 10
Amsterdam 9
Chennai 9
Helsinki 9
San Francisco 8
São Paulo 8
Boardman 7
Chandler 7
Paris 7
Secaucus 7
Baghdad 6
Boston 6
Columbus 6
Biên Hòa 5
Warsaw 5
Assago 4
Berlin 4
Bethesda 4
Cetraro 4
Charlotte 4
Da Nang 4
Johannesburg 4
Messina 4
Montreal 4
Naples 4
New Delhi 4
Pasadena 4
Santa Fe 4
Washington 4
Wilmington 4
City of London 3
Danvers 3
Denver 3
Des Moines 3
Frankfurt am Main 3
Guangzhou 3
Hanover 3
Lahore 3
Locri 3
Orem 3
Osio Sotto 3
Providence 3
Rimini 3
Riyadh 3
San Nicola Manfredi 3
Stockholm 3
Tashkent 3
Tokyo 3
Asunción 2
Augusta 2
Aversa 2
Belo Horizonte 2
Bragança Paulista 2
Brasília 2
Calgary 2
Cape Town 2
Caracas 2
Carney 2
Casamassima 2
Catanzaro 2
Cormons 2
Dublin 2
Edgerton 2
Elk Grove Village 2
Erbil 2
Guarulhos 2
Haiphong 2
Houston 2
Hải Dương 2
Jakarta 2
Jeddah 2
Manaus 2
Manchester 2
Marseille 2
Mendicino 2
Miami 2
Montalto Uffugo 2
Totale 1.581
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Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 104
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 88
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)) 84
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 81
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 65
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 62
ANXA1 mutation analysis in Italian patients with early onset PD 59
ANXA1 mutation analysis in Italian patients with early onset PD 58
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 58
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 58
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 57
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 57
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 56
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 54
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 52
Analysis of the TMEM230 gene in patients with multiple system atrophy 52
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 51
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 51
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 50
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 50
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 50
Genome-wide association meta-analyses of drug-resistant epilepsy 46
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)) 45
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 44
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 43
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 43
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 43
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 42
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 41
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 41
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 41
Association of Body Mass Index and Parkinson Disease 40
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 40
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 40
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 40
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 39
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 37
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 37
Evidence of genetic heterogeneity in families with febrile seizures 37
PCDH19 mutations in female patients from southern Italy 36
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 36
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 35
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 33
Mutational analysis of COASY in an Italian patient with NBIA 32
Camptocormia as presenting in lower motor neuron disease with {TARDBP} mutation: case report 32
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 31
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 31
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 30
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 29
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 29
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 29
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 28
Polygenic burden in focal and generalized epilepsies 26
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 25
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 24
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 23
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification 22
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 21
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 19
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant 9
Totale 2.616
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Categoria #
all - tutte 19.098
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 19.098
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212 0 0 0 0 0 0 0 0 0 2 0 0
2021/202266 0 0 1 7 1 0 1 9 31 5 9 2
2022/2023137 20 0 6 0 2 46 7 11 12 7 17 9
2023/2024200 49 30 17 21 17 44 5 1 0 0 7 9
2024/2025628 55 14 4 42 48 76 21 29 75 22 87 155
2025/20261.571 120 160 241 198 191 72 219 61 203 106 0 0
Totale 2.616