IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.310
AS - Asia 859
EU - Europa 448
SA - Sud America 132
Continente sconosciuto - Info sul continente non disponibili 77
AF - Africa 15
OC - Oceania 3
Totale 2.844
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Nazione #
US - Stati Uniti d'America 1.273
SG - Singapore 388
IT - Italia 193
CN - Cina 180
BR - Brasile 102
VN - Vietnam 93
IN - India 76
DE - Germania 64
GB - Regno Unito 51
HK - Hong Kong 44
FI - Finlandia 31
BD - Bangladesh 27
NL - Olanda 24
CA - Canada 19
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
PL - Polonia 6
SA - Arabia Saudita 6
ES - Italia 5
MX - Messico 5
JM - Giamaica 4
JP - Giappone 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
CR - Costa Rica 1
CY - Cipro 1
DM - Dominica 1
EG - Egitto 1
HN - Honduras 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
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 2.769
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Città #
San Jose 261
Dallas 206
Singapore 165
Ashburn 142
Santa Clara 85
Council Bluffs 61
Bengaluru 56
Hefei 52
Hong Kong 44
Ho Chi Minh City 42
Chicago 41
Munich 40
London 38
Beijing 36
Milan 28
Turku 22
Los Angeles 20
Hanoi 17
Rome 14
Buffalo 13
New York 11
Lawrence 10
Princeton 10
The Dalles 10
Amsterdam 9
Chennai 9
Helsinki 9
San Francisco 8
São Paulo 8
Boardman 7
Chandler 7
Naples 7
Paris 7
Secaucus 7
Baghdad 6
Boston 6
Columbus 6
Biên Hòa 5
Montreal 5
New Delhi 5
Pasadena 5
Warsaw 5
Wilmington 5
Assago 4
Berlin 4
Bethesda 4
Catanzaro 4
Cetraro 4
Charlotte 4
Da Nang 4
Johannesburg 4
Messina 4
Santa Fe 4
Washington 4
Aversa 3
City of London 3
Danvers 3
Denver 3
Des Moines 3
Frankfurt am Main 3
Guangzhou 3
Hanover 3
Lahore 3
Locri 3
Miami 3
Orem 3
Osio Sotto 3
Providence 3
Rimini 3
Riyadh 3
San Nicola Manfredi 3
Stockholm 3
Tashkent 3
Tokyo 3
Toronto 3
Trieste 3
Asunción 2
Augusta 2
Belo Horizonte 2
Bragança Paulista 2
Brasília 2
Calgary 2
Cape Town 2
Caracas 2
Carney 2
Casamassima 2
Casapulla 2
Cormons 2
Cosenza 2
Dublin 2
Edgerton 2
Elk Grove Village 2
Erbil 2
Fort Lauderdale 2
Guarulhos 2
Haiphong 2
Houston 2
Hải Dương 2
Jakarta 2
Jeddah 2
Totale 1.708
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Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 107
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 90
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 87
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
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 71
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 68
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 65
ANXA1 mutation analysis in Italian patients with early onset PD 62
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 62
ANXA1 mutation analysis in Italian patients with early onset PD 61
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 61
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 60
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 58
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 58
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 58
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 56
Genome-wide association meta-analyses of drug-resistant epilepsy 55
Analysis of the TMEM230 gene in patients with multiple system atrophy 55
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 54
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 53
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 53
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 52
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 52
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)) 49
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 48
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 46
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 45
Association of Body Mass Index and Parkinson Disease 45
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 45
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 44
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 44
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 44
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 42
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 42
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 42
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 41
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 41
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 41
Evidence of genetic heterogeneity in families with febrile seizures 40
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 40
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 39
PCDH19 mutations in female patients from southern Italy 38
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 38
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 36
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 35
Mutational analysis of COASY in an Italian patient with NBIA 35
Camptocormia as presenting in lower motor neuron disease with {TARDBP} mutation: case report 35
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 34
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 33
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 30
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 29
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 29
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 29
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 28
Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant 28
Polygenic burden in focal and generalized epilepsies 27
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 25
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 24
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 23
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification 23
No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson’s disease 5
Totale 2.844
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Categoria #
all - tutte 21.710
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 21.710
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20261.713 120 160 241 198 191 72 219 61 203 136 78 34
2026/202786 14 72 0 0 0 0 0 0 0 0 0 0
Totale 2.844