IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 487
EU - Europa 285
AS - Asia 278
SA - Sud America 24
AF - Africa 2
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 2
Totale 1.080
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Nazione #
US - Stati Uniti d'America 479
SG - Singapore 216
IT - Italia 117
DE - Germania 54
GB - Regno Unito 39
HK - Hong Kong 27
BR - Brasile 22
FI - Finlandia 22
NL - Olanda 17
CN - Cina 11
SE - Svezia 9
FR - Francia 7
IN - India 7
CA - Canada 6
UA - Ucraina 4
AT - Austria 3
EE - Estonia 3
IQ - Iraq 3
JP - Giappone 3
PK - Pakistan 3
PL - Polonia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BD - Bangladesh 2
CZ - Repubblica Ceca 2
LU - Lussemburgo 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
BB - Barbados 1
ES - Italia 1
IL - Israele 1
IR - Iran 1
MX - Messico 1
PT - Portogallo 1
RO - Romania 1
TO - Tonga 1
TR - Turchia 1
TW - Taiwan 1
UY - Uruguay 1
VE - Venezuela 1
VN - Vietnam 1
Totale 1.080
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Città #
Singapore 139
Santa Clara 71
Munich 40
Chicago 35
London 35
Hong Kong 27
Ashburn 24
Milan 22
Turku 19
Lawrence 10
Princeton 10
The Dalles 10
Buffalo 9
Los Angeles 9
Boardman 7
Chandler 7
Rome 7
Secaucus 7
Columbus 6
New York 6
San Francisco 6
Paris 5
Amsterdam 4
Assago 4
Berlin 4
Bethesda 4
Cetraro 4
Naples 4
Pasadena 4
Washington 4
Wilmington 4
Boston 3
Charlotte 3
Danvers 3
Denver 3
Des Moines 3
Hanover 3
Helsinki 3
Locri 3
Osio Sotto 3
Rimini 3
San Nicola Manfredi 3
Warsaw 3
Augusta 2
Aversa 2
Catanzaro 2
Chennai 2
Cormons 2
Dallas 2
Edgerton 2
Elk Grove Village 2
Guangzhou 2
Johannesburg 2
Mendicino 2
Miami 2
Olomouc 2
Palo del Colle 2
Pesaro 2
Providence 2
Pétange 2
Shenzhen 2
Squillace 2
São Paulo 2
Tokyo 2
Treviso 2
Trieste 2
Turin 2
Verona 2
Acton 1
Ad Dīwānīyah 1
Akron 1
Almont 1
Araxá 1
Atibaia 1
Baden 1
Basra 1
Bastrop 1
Bom Jesus 1
Boydton 1
Brescia 1
Bridgetown 1
Brockport 1
Bucharest 1
Calgary 1
Cambridge 1
Campinas 1
Carney 1
Castrop-rauxel 1
Cernusco sul Naviglio 1
Coccaglio 1
Cupar 1
Detroit 1
Duncan 1
East Orange 1
Edmonton 1
Erbil 1
Escada 1
Fairburn 1
Firmo 1
Frederick 1
Totale 665
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Nome #
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)) 65
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 60
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 42
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 41
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 36
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 33
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 31
ANXA1 mutation analysis in Italian patients with early onset PD 29
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 29
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 28
ANXA1 mutation analysis in Italian patients with early onset PD 27
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 27
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 27
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 27
Analysis of the TMEM230 gene in patients with multiple system atrophy 26
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 26
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 24
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 23
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 23
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 23
Evidence of genetic heterogeneity in families with febrile seizures 23
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 22
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 22
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 22
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 21
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 21
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 21
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)) 20
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 19
Association of Body Mass Index and Parkinson Disease 18
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 18
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 17
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 17
Camptocormia as presenting in lower motor neuron disease with {TARDBP} mutation: case report 17
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 16
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 16
Mutational analysis of COASY in an Italian patient with NBIA 15
Polygenic burden in focal and generalized epilepsies 15
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 14
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 14
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 14
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 13
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 13
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 13
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 12
PCDH19 mutations in female patients from southern Italy 11
Identification of Ser71Arg mutation in RAB32 gene in familial Parkinson’s disease from Southern Italy 10
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 10
Genome-wide association meta-analyses of drug-resistant epilepsy 10
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 9
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 8
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 7
Totale 1.145
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Categoria #
all - tutte 14.624
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 14.624
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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
2025/2026100 100 0 0 0 0 0 0 0 0 0 0 0
Totale 1.145