IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 782
AS - Asia 635
EU - Europa 333
SA - Sud America 106
AF - Africa 7
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
Totale 1.867
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Nazione #
US - Stati Uniti d'America 764
SG - Singapore 320
IT - Italia 127
CN - Cina 117
BR - Brasile 86
VN - Vietnam 68
IN - India 66
DE - Germania 61
GB - Regno Unito 42
HK - Hong Kong 33
FI - Finlandia 28
NL - Olanda 18
CA - Canada 10
SE - Svezia 10
FR - Francia 9
AR - Argentina 8
AT - Austria 8
BD - Bangladesh 6
PL - Polonia 6
UA - Ucraina 6
RU - Federazione Russa 5
IQ - Iraq 4
JP - Giappone 4
ZA - Sudafrica 4
EC - Ecuador 3
EE - Estonia 3
ES - Italia 3
MX - Messico 3
PK - Pakistan 3
PY - Paraguay 3
TR - Turchia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
CO - Colombia 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
ID - Indonesia 2
LU - Lussemburgo 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AU - Australia 1
BB - Barbados 1
DM - Dominica 1
EG - Egitto 1
IL - Israele 1
IR - Iran 1
KW - Kuwait 1
MA - Marocco 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
RO - Romania 1
TN - Tunisia 1
TO - Tonga 1
TW - Taiwan 1
UY - Uruguay 1
Totale 1.867
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Città #
Dallas 205
Singapore 148
Santa Clara 75
Bengaluru 56
Ashburn 55
Hefei 52
Munich 40
Chicago 36
Ho Chi Minh City 35
London 35
Hong Kong 33
Milan 22
Turku 22
Beijing 19
Hanoi 14
Los Angeles 14
Buffalo 10
Lawrence 10
Princeton 10
The Dalles 10
New York 8
Rome 8
San Francisco 8
São Paulo 8
Boardman 7
Chandler 7
Secaucus 7
Boston 6
Columbus 6
Helsinki 6
Paris 6
Amsterdam 5
Warsaw 5
Assago 4
Berlin 4
Bethesda 4
Biên Hòa 4
Cetraro 4
Charlotte 4
Council Bluffs 4
Naples 4
Pasadena 4
Washington 4
Wilmington 4
Chennai 3
Danvers 3
Denver 3
Des Moines 3
Hanover 3
Johannesburg 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
Bragança Paulista 2
Brasília 2
Calgary 2
Carney 2
Casamassima 2
Catanzaro 2
Cormons 2
Da Nang 2
Edgerton 2
Elk Grove Village 2
Guangzhou 2
Haiphong 2
Jakarta 2
Manaus 2
Manchester 2
Mendicino 2
Messina 2
Miami 2
Montalto Uffugo 2
Niterói 2
Nuremberg 2
Olomouc 2
Palo del Colle 2
Pesaro 2
Pétange 2
Ribeirão das Neves 2
Riyadh 2
Santo Domingo 2
Shenzhen 2
Squillace 2
Stockholm 2
Sumaré 2
São Luís 2
Tashkent 2
Treviso 2
Trieste 2
Turin 2
Verona 2
Acton 1
Totale 1.158
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Nome #
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 89
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 74
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)) 73
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 51
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 50
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 49
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 48
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 46
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 45
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 45
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 45
Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic Encephalopathies 44
ANXA1 mutation analysis in Italian patients with early onset PD 42
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 41
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 41
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 40
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 39
ANXA1 mutation analysis in Italian patients with early onset PD 37
Analysis of the TMEM230 gene in patients with multiple system atrophy 37
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 37
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 37
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 36
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 36
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 33
Association of Body Mass Index and Parkinson Disease 33
Genome-wide association meta-analyses of drug-resistant epilepsy 33
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 33
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)) 31
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 31
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 30
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 30
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 30
Evidence of genetic heterogeneity in families with febrile seizures 30
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 30
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 30
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 29
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 29
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 26
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 26
Camptocormia as presenting in lower motor neuron disease with {TARDBP} mutation: case report 26
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 25
PCDH19 mutations in female patients from southern Italy 25
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 25
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 23
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 23
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 23
Mutational analysis of COASY in an Italian patient with NBIA 22
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 21
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 21
Polygenic burden in focal and generalized epilepsies 19
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 18
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 18
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 15
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 15
Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease 12
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 12
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 11
MAPT Subhaplotypes in Different Progressive Supranuclear Palsy Phenotypes 11
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification 9
Totale 1.940
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Categoria #
all - tutte 17.562
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 17.562
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202110 0 0 0 0 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
2025/2026895 120 160 241 198 176 0 0 0 0 0 0 0
Totale 1.940