IRIS
ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 251
EU - Europa 98
AS - Asia 5
SA - Sud America 3
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 360
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Nazione #
US - Stati Uniti d'America 251
IT - Italia 36
GB - Regno Unito 33
DE - Germania 11
SE - Svezia 8
FR - Francia 5
BR - Brasile 3
A2 - ???statistics.table.value.countryCode.A2??? 2
CN - Cina 2
LU - Lussemburgo 2
UA - Ucraina 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
IN - India 1
RO - Romania 1
TR - Turchia 1
Totale 360
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Città #
London 33
Chicago 32
Ashburn 15
Lawrence 10
Princeton 10
Chandler 7
Buffalo 5
Milan 5
Paris 5
Assago 4
Berlin 4
Bethesda 4
Cetraro 4
Washington 4
Wilmington 4
Danvers 3
Des Moines 3
Hanover 3
Locri 3
The Dalles 3
Catanzaro 2
Cormons 2
New York 2
Pesaro 2
Pétange 2
Shenzhen 2
Treviso 2
Trieste 2
Turin 2
Acton 1
Akron 1
Augusta 1
Baden 1
Bucharest 1
Cambridge 1
Castrop-rauxel 1
Duncan 1
Firmo 1
Gainesville 1
Houston 1
Irvington 1
Manchester 1
Messina 1
Nashville 1
Pisa 1
Providence 1
Reutlingen 1
Rome 1
Samsun 1
Sydney 1
Tampa 1
Trento 1
Tübingen 1
Totale 203
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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)) 51
Analysis of the LRP10 gene in patients with Parkinson’s disease and dementia with Lewy bodies from Southern Italy 19
Genetics heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern 16
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy 16
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate 15
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation 14
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 13
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB 13
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 13
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 12
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)) 11
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy 11
Evidence of genetic heterogeneity in families with febrile seizures 11
Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria 10
ANXA1 mutation analysis in Italian patients with early onset PD 9
Sacsin-related spastic ataxia caused by a novel missense mutation p.arg272his in a patient from sicily, Southern Italy 9
Analysis of the TMEM230 gene in patients with multiple system atrophy 9
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences 9
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 9
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy 9
Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy 8
ANXA1 mutation analysis in Italian patients with early onset PD 8
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria 8
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 7
Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia 7
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 7
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 7
Polygenic burden in focal and generalized epilepsies 7
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy 7
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 7
Mutational analysis of COASY in an Italian patient with NBIA 6
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP 6
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 6
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 6
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 6
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 5
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 5
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 4
PCDH19 mutations in female patients from southern Italy 4
The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited 3
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation 3
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 1
Totale 407
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Categoria #
all - tutte 5.455
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 5.455
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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
2023/2024190 49 30 17 21 17 44 5 1 0 0 6 0
Totale 407