IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 696
AS - Asia 364
EU - Europa 303
SA - Sud America 55
AF - Africa 3
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
Totale 1.425
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Nazione #
US - Stati Uniti d'America 682
SG - Singapore 220
IT - Italia 120
CN - Cina 63
DE - Germania 56
BR - Brasile 47
GB - Regno Unito 42
HK - Hong Kong 29
FI - Finlandia 22
VN - Vietnam 19
NL - Olanda 18
CA - Canada 10
IN - India 10
SE - Svezia 10
FR - Francia 8
PL - Polonia 6
UA - Ucraina 5
IQ - Iraq 4
JP - Giappone 4
AT - Austria 3
BD - Bangladesh 3
EE - Estonia 3
ES - Italia 3
PK - Pakistan 3
TR - Turchia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AR - Argentina 2
CO - Colombia 2
CZ - Repubblica Ceca 2
LU - Lussemburgo 2
MX - Messico 2
VE - Venezuela 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AU - Australia 1
BB - Barbados 1
DM - Dominica 1
EC - Ecuador 1
ID - Indonesia 1
IL - Israele 1
IR - Iran 1
KW - Kuwait 1
PT - Portogallo 1
RO - Romania 1
TN - Tunisia 1
TO - Tonga 1
TW - Taiwan 1
UY - Uruguay 1
Totale 1.425
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Città #
Singapore 143
Dallas 133
Santa Clara 75
Ashburn 52
Hefei 52
Munich 40
Chicago 36
London 35
Hong Kong 29
Milan 22
Turku 19
Ho Chi Minh City 14
Los Angeles 14
Buffalo 10
Lawrence 10
Princeton 10
The Dalles 10
New York 8
Rome 8
San Francisco 8
Boardman 7
Chandler 7
Secaucus 7
Boston 6
Columbus 6
Paris 6
São Paulo 6
Amsterdam 5
Warsaw 5
Assago 4
Berlin 4
Bethesda 4
Cetraro 4
Charlotte 4
Naples 4
Pasadena 4
Washington 4
Wilmington 4
Chennai 3
Danvers 3
Denver 3
Des Moines 3
Hanoi 3
Hanover 3
Helsinki 3
Locri 3
Montreal 3
New Delhi 3
Osio Sotto 3
Providence 3
Rimini 3
San Nicola Manfredi 3
Santa Fe 3
Tokyo 3
Augusta 2
Aversa 2
Calgary 2
Carney 2
Catanzaro 2
Cormons 2
Edgerton 2
Elk Grove Village 2
Guangzhou 2
Johannesburg 2
Manchester 2
Mendicino 2
Messina 2
Miami 2
Olomouc 2
Palo del Colle 2
Pesaro 2
Pétange 2
Shenzhen 2
Squillace 2
Stockholm 2
Treviso 2
Trieste 2
Turin 2
Verona 2
Acton 1
Ad Dīwānīyah 1
Akron 1
Almont 1
Ankara 1
Arame 1
Araxá 1
Atibaia 1
Baden 1
Baghdad 1
Barranquilla 1
Basra 1
Bastrop 1
Belo Horizonte 1
Boa Vista 1
Bom Jesus 1
Bonfim 1
Boydton 1
Brasília 1
Brescia 1
Bridgetown 1
Totale 938
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Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 71
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)) 69
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 67
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 47
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 46
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 43
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 42
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 39
ANXA1 mutation analysis in Italian patients with early onset PD 38
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 38
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 36
ANXA1 mutation analysis in Italian patients with early onset PD 34
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 34
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 33
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 33
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 33
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 32
Analysis of the TMEM230 gene in patients with multiple system atrophy 31
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 30
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 29
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 28
Association of Body Mass Index and Parkinson Disease 28
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 27
Evidence of genetic heterogeneity in families with febrile seizures 26
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)) 25
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 25
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 25
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 25
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 25
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 24
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 24
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 23
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 22
PCDH19 mutations in female patients from southern Italy 22
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 22
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 22
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 21
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 21
Camptocormia as presenting in lower motor neuron disease with {TARDBP} mutation: case report 21
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 20
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 19
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 18
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 17
Mutational analysis of COASY in an Italian patient with NBIA 17
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 17
Genome-wide association meta-analyses of drug-resistant epilepsy 17
Polygenic burden in focal and generalized epilepsies 16
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 16
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 15
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 14
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 12
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 11
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 1
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 1
Totale 1.492
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Categoria #
all - tutte 16.182
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 16.182
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202114 0 0 0 4 2 0 2 4 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
2025/2026447 120 160 167 0 0 0 0 0 0 0 0 0
Totale 1.492