IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.541
AS - Asia 871
EU - Europa 468
SA - Sud America 133
Continente sconosciuto - Info sul continente non disponibili 80
AF - Africa 16
OC - Oceania 3
Totale 3.112
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Nazione #
US - Stati Uniti d'America 1.493
SG - Singapore 392
IT - Italia 210
CN - Cina 184
BR - Brasile 102
VN - Vietnam 93
IN - India 76
DE - Germania 64
GB - Regno Unito 54
HK - Hong Kong 46
FI - Finlandia 31
BD - Bangladesh 27
CA - Canada 25
NL - Olanda 24
FR - Francia 18
AR - Argentina 12
IQ - Iraq 11
SE - Svezia 11
AT - Austria 8
UA - Ucraina 8
PK - Pakistan 7
RU - Federazione Russa 7
ZA - Sudafrica 7
JP - Giappone 6
PL - Polonia 6
SA - Arabia Saudita 6
ES - Italia 5
MX - Messico 5
GT - Guatemala 4
JM - Giamaica 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
CL - Cile 2
CO - Colombia 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
GR - Grecia 2
HN - Honduras 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
CR - Costa Rica 1
CY - Cipro 1
DM - Dominica 1
EG - Egitto 1
HR - Croazia 1
HU - Ungheria 1
IR - Iran 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
MT - Malta 1
NG - Nigeria 1
NI - Nicaragua 1
PA - Panama 1
PH - Filippine 1
SC - Seychelles 1
TN - Tunisia 1
TO - Tonga 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 3.034
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Città #
San Jose 305
Dallas 208
Singapore 168
Ashburn 155
Santa Clara 92
Council Bluffs 73
Bengaluru 56
Hefei 52
Hong Kong 46
Chicago 44
Ho Chi Minh City 42
Beijing 40
Munich 40
London 38
Milan 30
Phoenix 27
Los Angeles 24
Turku 22
Hanoi 17
Rome 17
Buffalo 15
New York 13
Princeton 12
Lawrence 10
The Dalles 10
Amsterdam 9
Chennai 9
Helsinki 9
San Francisco 8
São Paulo 8
Boardman 7
Boston 7
Chandler 7
Columbus 7
Naples 7
Paris 7
Secaucus 7
Baghdad 6
Montreal 6
Biên Hòa 5
Houston 5
New Delhi 5
Pasadena 5
Tokyo 5
Toronto 5
Warsaw 5
Wilmington 5
Assago 4
Berlin 4
Bethesda 4
Catanzaro 4
Cetraro 4
Charlotte 4
Da Nang 4
Denver 4
Guatemala City 4
Johannesburg 4
Messina 4
Miami 4
Santa Fe 4
Washington 4
Aversa 3
City of London 3
Danvers 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
Trieste 3
Turin 3
Asunción 2
Augusta 2
Belo Horizonte 2
Birmingham 2
Bragança Paulista 2
Brasília 2
Calgary 2
Cape Town 2
Caracas 2
Carney 2
Casamassima 2
Casapulla 2
Cormons 2
Cosenza 2
Detroit 2
Dublin 2
Edgerton 2
Elk Grove Village 2
Erbil 2
Fort Lauderdale 2
Totale 1.853
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Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 112
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 95
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 92
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)) 87
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 73
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 73
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 73
ANXA1 mutation analysis in Italian patients with early onset PD 67
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 66
ANXA1 mutation analysis in Italian patients with early onset PD 65
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 65
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 65
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 64
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 63
Analysis of the TMEM230 gene in patients with multiple system atrophy 62
Genome-wide association meta-analyses of drug-resistant epilepsy 61
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 61
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 60
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 58
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 58
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 57
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 57
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 56
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 55
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)) 54
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 51
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 50
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 50
Association of Body Mass Index and Parkinson Disease 49
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 48
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 46
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 46
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 46
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 45
PCDH19 mutations in female patients from southern Italy 45
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 45
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 45
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 44
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 44
Evidence of genetic heterogeneity in families with febrile seizures 43
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 43
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 42
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 42
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 41
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 40
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 40
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 37
Camptocormia as presenting in lower motor neuron disease with {TARDBP} mutation: case report 37
Mutational analysis of COASY in an Italian patient with NBIA 36
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant 35
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 33
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 32
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 32
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 32
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 32
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 31
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 30
Polygenic burden in focal and generalized epilepsies 30
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 29
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification 28
No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson’s disease 11
Exploring MAPT-containing H1 and H2 haplotypes in Parkinson’s disease across diverse populations 1
Genetic variation in antidiabetic drug targets: associations with Parkinson’s disease risk and age at onset 1
Reduced Mitochondrial DNA Copy Number and Telomere Length in Essential Tremor Patients: Evidence from an Age- and Sex-Adjusted Cross-Sectional Case–Control Study 1
Totale 3.112
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Categoria #
all - tutte 23.608
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 23.608
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202265 0 0 0 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
2025/20261.713 120 160 241 198 191 72 219 61 203 136 78 34
2026/2027354 14 108 165 67 0 0 0 0 0 0 0 0
Totale 3.112