IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 368
EU - Europa 199
AS - Asia 173
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 747
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Nazione #
US - Stati Uniti d'America 368
SG - Singapore 139
IT - Italia 107
GB - Regno Unito 33
DE - Germania 17
NL - Olanda 16
HK - Hong Kong 14
CN - Cina 10
SE - Svezia 8
FR - Francia 6
BR - Brasile 3
EE - Estonia 3
IN - India 3
UA - Ucraina 3
A2 - ???statistics.table.value.countryCode.A2??? 2
FI - Finlandia 2
JP - Giappone 2
LU - Lussemburgo 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
CZ - Repubblica Ceca 1
IR - Iran 1
PK - Pakistan 1
RO - Romania 1
TR - Turchia 1
TW - Taiwan 1
VE - Venezuela 1
Totale 747
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Città #
Singapore 73
Santa Clara 61
London 33
Chicago 32
Milan 20
Ashburn 16
Hong Kong 14
Lawrence 10
Princeton 10
Buffalo 8
Chandler 7
Rome 7
Paris 5
Assago 4
Berlin 4
Bethesda 4
Boardman 4
Cetraro 4
Naples 4
Pasadena 4
Secaucus 4
Washington 4
Wilmington 4
Amsterdam 3
Danvers 3
Des Moines 3
Hanover 3
Locri 3
Munich 3
Osio Sotto 3
Rimini 3
San Nicola Manfredi 3
The Dalles 3
Aversa 2
Catanzaro 2
Cormons 2
Edgerton 2
Elk Grove Village 2
Guangzhou 2
Helsinki 2
Los Angeles 2
Mendicino 2
New York 2
Palo del Colle 2
Pesaro 2
Pétange 2
Shenzhen 2
Squillace 2
Treviso 2
Trieste 2
Turin 2
Acton 1
Akron 1
Augusta 1
Baden 1
Brescia 1
Bucharest 1
Cambridge 1
Castrop-rauxel 1
Cernusco sul Naviglio 1
Coccaglio 1
Duncan 1
Firmo 1
Gainesville 1
Houston 1
Irvington 1
Kawasaki 1
Lamezia Terme 1
Manchester 1
Mazara del Vallo 1
Messina 1
Nashville 1
Olomouc 1
Pescara 1
Pisa 1
Providence 1
Reutlingen 1
Samsun 1
San Francisco 1
Serra San Bruno 1
Shanghai 1
Sydney 1
Tampa 1
Tokyo 1
Trento 1
Tübingen 1
Totale 437
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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)) 56
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 48
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 29
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 28
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 26
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 25
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 21
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 21
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 21
ANXA1 mutation analysis in Italian patients with early onset PD 20
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 20
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 20
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 19
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 19
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 19
Analysis of the TMEM230 gene in patients with multiple system atrophy 18
Evidence of genetic heterogeneity in families with febrile seizures 18
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 18
ANXA1 mutation analysis in Italian patients with early onset PD 17
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 17
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 17
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 17
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 17
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)) 15
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 15
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 15
Association of Body Mass Index and Parkinson Disease 14
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 14
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 14
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 14
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 13
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 13
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 13
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 12
Polygenic burden in focal and generalized epilepsies 12
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 11
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 11
Mutational analysis of COASY in an Italian patient with NBIA 10
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 10
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 10
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 10
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 9
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 7
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 7
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 7
PCDH19 mutations in female patients from southern Italy 7
Camptocormia as presenting in lower motor neuron disease with {TARDBP} mutation: case report 5
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 5
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 4
Totale 808
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Categoria #
all - tutte 11.389
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 11.389
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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
2024/2025391 55 14 4 42 48 76 21 29 75 22 5 0
Totale 808