IRIS
ORIGONE, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 5.801
AS - Asia 749
NA - Nord America 698
Continente sconosciuto - Info sul continente non disponibili 106
SA - Sud America 70
AF - Africa 21
OC - Oceania 1
Totale 7.446
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Nazione #
IT - Italia 5.671
US - Stati Uniti d'America 651
SG - Singapore 269
CN - Cina 166
VN - Vietnam 127
BD - Bangladesh 110
FR - Francia 45
BR - Brasile 38
CA - Canada 25
HK - Hong Kong 24
DE - Germania 13
NL - Olanda 13
AR - Argentina 12
FI - Finlandia 12
JP - Giappone 12
ES - Italia 9
ZA - Sudafrica 9
CH - Svizzera 7
GB - Regno Unito 7
JM - Giamaica 6
CO - Colombia 5
EC - Ecuador 5
ID - Indonesia 5
CR - Costa Rica 4
IN - India 4
IQ - Iraq 4
MX - Messico 4
RU - Federazione Russa 4
TR - Turchia 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
CL - Cile 3
GT - Guatemala 3
IE - Irlanda 3
DO - Repubblica Dominicana 2
KZ - Kazakistan 2
MA - Marocco 2
MY - Malesia 2
NG - Nigeria 2
PH - Filippine 2
PY - Paraguay 2
RO - Romania 2
UA - Ucraina 2
UY - Uruguay 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AO - Angola 1
AU - Australia 1
BA - Bosnia-Erzegovina 1
BE - Belgio 1
BG - Bulgaria 1
BO - Bolivia 1
BW - Botswana 1
CG - Congo 1
CW - ???statistics.table.value.countryCode.CW??? 1
CY - Cipro 1
DZ - Algeria 1
EG - Egitto 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
JO - Giordania 1
KE - Kenya 1
KG - Kirghizistan 1
KR - Corea 1
LB - Libano 1
LK - Sri Lanka 1
LT - Lituania 1
NI - Nicaragua 1
PA - Panama 1
PK - Pakistan 1
PL - Polonia 1
PT - Portogallo 1
RS - Serbia 1
SA - Arabia Saudita 1
SC - Seychelles 1
SE - Svezia 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
TZ - Tanzania 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 7.342
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Città #
Genova 2.847
Genoa 1.790
Rapallo 522
Vado Ligure 402
San Jose 149
Singapore 120
Ho Chi Minh City 45
Ashburn 44
Lauterbourg 35
Beijing 33
Hanoi 26
New York 21
Hong Kong 19
Los Angeles 15
Milan 13
Santa Clara 13
Council Bluffs 12
Bordighera 11
Frankfurt am Main 11
Helsinki 11
Montreal 10
Amsterdam 9
Chicago 9
Phoenix 9
Tokyo 9
Buffalo 7
Da Nang 7
Dallas 6
Naples 6
Zurich 6
Haiphong 5
Johannesburg 5
Orem 5
Rome 5
Biên Hòa 4
Cleveland 4
Hayward 4
Las Vegas 4
Philadelphia 4
São Paulo 4
Baku 3
Brooklyn 3
Cape Town 3
Chula Vista 3
Dublin 3
Guatemala City 3
Kingston 3
Medellín 3
Memphis 3
Nashville 3
Portland 3
Raleigh 3
Rosario 3
San José 3
Tashkent 3
Tianjin 3
Turin 3
Abingdon 2
Akron 2
Almaty 2
Anaheim 2
Atlanta 2
Barcelona 2
Bari 2
Bensalem 2
Berlin 2
Boardman 2
Bologna 2
Boston 2
Boydton 2
Brasília 2
Buenos Aires 2
Bắc Ninh 2
Capitol Heights 2
Caxias do Sul 2
Charleston 2
Chennai 2
City of London 2
Columbus 2
Conway 2
Fair Oaks 2
Fairfield 2
Ha Kwai Chung 2
Hangzhou 2
Houston 2
Hải Dương 2
Jacksonville 2
Kasson 2
Lake Worth 2
Louisville 2
Madrid 2
Manchester 2
Mexico City 2
Miami 2
Midland 2
Milwaukee 2
Montevideo 2
New Orleans 2
Newark 2
North Las Vegas 2
Totale 6.398
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Nome #
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 254
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 240
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 237
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 235
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 222
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 222
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 219
I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families. 215
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 206
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 204
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 196
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 194
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 192
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. 187
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. 184
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 184
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 176
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 173
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 170
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 169
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 165
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 158
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 155
GIST mutational status and survival 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 144
The FIG4 gene does not play a major role in causing ALS in Italian patients. 143
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 142
HFE p.H63D polymorphism does not influence ALS phenotype and survival 139
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 135
Novel MC1R variants in Ligurian melanoma patients and controls 135
The Genoa experience of prenatal diagnosis in NF1 134
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 133
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 131
The role of anterior prefrontal cortex in prospective memory: an exploratory FDG-PET study in early Alzheimer's disease 131
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 128
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 128
Identification of the Nramp gene in TV-1 fibroblasts from turbot Psetta maxima, formerly Scophthalmus maximus L. 1758 (Pisces: Scophthalmidae) 122
Mutation analysis of oxisterol-binding-protein (OSBP2) gene in patients with age related macular degeneration 116
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 115
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 113
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 104
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 104
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 101
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 85
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study 84
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 75
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 66
null 35
Totale 7.446
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Categoria #
all - tutte 23.436
article - articoli 22.986
book - libri 0
conference - conferenze 450
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.872
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022453 0 0 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
2025/20261.949 291 77 105 136 249 129 275 96 119 169 137 166
2026/2027384 190 98 96 0 0 0 0 0 0 0 0 0
Totale 7.446