IRIS
ORIGONE, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 5.715
AS - Asia 626
NA - Nord America 221
SA - Sud America 62
AF - Africa 19
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.644
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Nazione #
IT - Italia 5.601
SG - Singapore 266
US - Stati Uniti d'America 209
CN - Cina 160
VN - Vietnam 126
FR - Francia 40
BR - Brasile 33
HK - Hong Kong 21
DE - Germania 12
FI - Finlandia 12
AR - Argentina 11
JP - Giappone 11
NL - Olanda 11
ZA - Sudafrica 9
ES - Italia 7
BD - Bangladesh 6
CH - Svizzera 6
GB - Regno Unito 6
EC - Ecuador 5
ID - Indonesia 5
CA - Canada 4
CO - Colombia 4
IQ - Iraq 4
RU - Federazione Russa 4
TR - Turchia 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
CL - Cile 3
IE - Irlanda 3
IN - India 3
CR - Costa Rica 2
DO - Repubblica Dominicana 2
KZ - Kazakistan 2
MA - Marocco 2
MX - Messico 2
NG - Nigeria 2
PH - Filippine 2
PY - Paraguay 2
RO - Romania 2
UA - Ucraina 2
UY - Uruguay 2
AL - Albania 1
AO - Angola 1
BE - Belgio 1
BG - Bulgaria 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
CY - Cipro 1
DZ - Algeria 1
EG - Egitto 1
GR - Grecia 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
KG - Kirghizistan 1
KR - Corea 1
LK - Sri Lanka 1
LT - Lituania 1
NI - Nicaragua 1
PA - Panama 1
PK - Pakistan 1
SA - Arabia Saudita 1
SE - Svezia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
TZ - Tanzania 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.644
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Città #
Genova 2.847
Genoa 1.786
Rapallo 522
Vado Ligure 402
Singapore 119
San Jose 97
Ho Chi Minh City 45
Lauterbourg 35
Beijing 29
Hanoi 26
Hong Kong 17
Ashburn 15
Council Bluffs 12
Bordighera 11
Frankfurt am Main 11
Helsinki 11
Amsterdam 9
Tokyo 9
Milan 8
Da Nang 7
Los Angeles 6
New York 6
Zurich 6
Haiphong 5
Johannesburg 5
Orem 5
Biên Hòa 4
Montreal 4
São Paulo 4
Baku 3
Cape Town 3
Dublin 3
Rosario 3
Tashkent 3
Tianjin 3
Almaty 2
Barcelona 2
Buenos Aires 2
Bắc Ninh 2
Caxias do Sul 2
Chennai 2
Chicago 2
City of London 2
Ha Kwai Chung 2
Hải Dương 2
Madrid 2
Medellín 2
Mexico City 2
Montevideo 2
Paris 2
San José 2
Santa Clara 2
Santiago 2
Shenzhen 2
Điện Bàn 2
Alessandria 1
Algiers 1
Almoradí 1
Ambato 1
Amman 1
Asunción 1
Baghdad 1
Bandung 1
Bishkek 1
Bologna 1
Brazzaville 1
Brewster 1
Brussels 1
Bursa 1
Cairo 1
Can Tho 1
Capim Grosso 1
Casilda 1
Castelo 1
Changshu 1
Cleveland 1
Colombo 1
Concord 1
Conway 1
Curitiba 1
Dallas 1
Dar es Salaam 1
Darlington 1
Denpasar 1
Des Moines 1
Dhaka 1
El Viso de San Juan 1
Erval Grande 1
Eureka 1
Fairfield 1
Ferizaj 1
Fortaleza 1
Foshan 1
Gaborone 1
Gramado 1
Guarulhos 1
Guayaquil 1
Ha Long 1
Hermosa 1
Istanbul 1
Totale 6.166
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Nome #
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 222
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 207
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 205
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 204
I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families. 203
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 202
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 199
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 198
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 198
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 197
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 187
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 183
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 178
Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling. 175
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. 172
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 162
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 162
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 161
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 161
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 160
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 147
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 146
Expression and genomic configuration of GM-CSF, IL-3, M-CSFreceptor (C-FMS), early growth response gene-1 (EGR-1) and M-CSF genes in primary myelodysplastic syndromes 137
GIST mutational status and survival 137
The FIG4 gene does not play a major role in causing ALS in Italian patients. 135
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 135
HFE p.H63D polymorphism does not influence ALS phenotype and survival 131
Novel MC1R variants in Ligurian melanoma patients and controls 129
The Genoa experience of prenatal diagnosis in NF1 127
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 124
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 123
The role of anterior prefrontal cortex in prospective memory: an exploratory FDG-PET study in early Alzheimer's disease 122
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 119
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 117
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 113
Identification of the Nramp gene in TV-1 fibroblasts from turbot Psetta maxima, formerly Scophthalmus maximus L. 1758 (Pisces: Scophthalmidae) 113
Mutation analysis of oxisterol-binding-protein (OSBP2) gene in patients with age related macular degeneration 109
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 106
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 102
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 95
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 94
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 91
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 87
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study 64
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 63
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 55
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 52
null 35
Totale 6.744
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Categoria #
all - tutte 20.441
article - articoli 20.037
book - libri 0
conference - conferenze 404
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 40.882
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021105 0 0 0 0 0 0 0 0 0 55 28 22
2021/2022493 13 27 54 40 23 37 32 103 29 35 27 73
2022/2023602 52 65 11 60 90 99 1 43 96 4 78 3
2023/2024431 20 30 6 65 22 115 31 19 22 26 18 57
2024/20251.158 39 64 26 85 127 112 102 226 56 56 137 128
2025/20261.631 291 77 105 136 249 129 275 96 119 154 0 0
Totale 6.744