IRIS
ORIGONE, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 5.785
AS - Asia 741
NA - Nord America 527
Continente sconosciuto - Info sul continente non disponibili 106
SA - Sud America 67
AF - Africa 19
Totale 7.245
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Nazione #
IT - Italia 5.660
US - Stati Uniti d'America 496
SG - Singapore 269
CN - Cina 165
VN - Vietnam 127
BD - Bangladesh 108
FR - Francia 43
BR - Brasile 36
HK - Hong Kong 22
CA - Canada 15
DE - Germania 12
FI - Finlandia 12
JP - Giappone 12
AR - Argentina 11
NL - Olanda 11
ES - Italia 9
ZA - Sudafrica 9
CH - Svizzera 7
GB - Regno Unito 7
CO - Colombia 5
EC - Ecuador 5
ID - Indonesia 5
IQ - Iraq 4
RU - Federazione Russa 4
TR - Turchia 4
UZ - Uzbekistan 4
AZ - Azerbaigian 3
CL - Cile 3
CR - Costa Rica 3
GT - Guatemala 3
IE - Irlanda 3
IN - India 3
JM - Giamaica 3
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
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AO - Angola 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
KG - Kirghizistan 1
KR - Corea 1
LK - Sri Lanka 1
LT - Lituania 1
MY - Malesia 1
NI - Nicaragua 1
PA - Panama 1
PK - Pakistan 1
PL - Polonia 1
PT - Portogallo 1
RS - Serbia 1
SA - Arabia Saudita 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 7.141
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Città #
Genova 2.847
Genoa 1.790
Rapallo 522
Vado Ligure 402
San Jose 129
Singapore 120
Ho Chi Minh City 45
Ashburn 36
Lauterbourg 35
Beijing 32
Hanoi 26
Hong Kong 18
New York 17
Los Angeles 13
Milan 13
Council Bluffs 12
Bordighera 11
Frankfurt am Main 11
Helsinki 11
Amsterdam 9
Tokyo 9
Da Nang 7
Montreal 7
Buffalo 6
Naples 6
Santa Clara 6
Zurich 6
Haiphong 5
Johannesburg 5
Orem 5
Phoenix 5
Biên Hòa 4
Chicago 4
Dallas 4
Hayward 4
São Paulo 4
Baku 3
Brooklyn 3
Cape Town 3
Chula Vista 3
Dublin 3
Guatemala City 3
Medellín 3
Memphis 3
Nashville 3
Philadelphia 3
Portland 3
Raleigh 3
Rome 3
Rosario 3
Tashkent 3
Tianjin 3
Abingdon 2
Akron 2
Almaty 2
Anaheim 2
Barcelona 2
Bari 2
Bensalem 2
Berlin 2
Boardman 2
Bologna 2
Boston 2
Boydton 2
Buenos Aires 2
Bắc Ninh 2
Capitol Heights 2
Caxias do Sul 2
Charleston 2
Chennai 2
City of London 2
Cleveland 2
Ha Kwai Chung 2
Hangzhou 2
Hải Dương 2
Kasson 2
Kingston 2
Lake Worth 2
Las Vegas 2
Madrid 2
Manchester 2
Mexico City 2
Midland 2
Milwaukee 2
Montevideo 2
Old Orchard Beach 2
Oxon Hill 2
Palermo 2
Paris 2
Piscataway 2
Queens 2
San José 2
Santiago 2
Shenzhen 2
St. Charles 2
Torrance 2
Virginia Beach 2
Washington 2
Điện Bàn 2
Abbeville 1
Totale 6.329
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Nome #
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 235
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 234
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 233
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. 221
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 220
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 216
I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families. 209
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. 203
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 193
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 191
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 191
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. 185
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 182
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. 178
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 175
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 169
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 167
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 164
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 155
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 155
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 149
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 142
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 141
The FIG4 gene does not play a major role in causing ALS in Italian patients. 141
GIST mutational status and survival 141
HFE p.H63D polymorphism does not influence ALS phenotype and survival 137
Novel MC1R variants in Ligurian melanoma patients and controls 135
The Genoa experience of prenatal diagnosis in NF1 133
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 131
The role of anterior prefrontal cortex in prospective memory: an exploratory FDG-PET study in early Alzheimer's disease 130
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 129
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 127
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 125
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 122
Identification of the Nramp gene in TV-1 fibroblasts from turbot Psetta maxima, formerly Scophthalmus maximus L. 1758 (Pisces: Scophthalmidae) 120
Mutation analysis of oxisterol-binding-protein (OSBP2) gene in patients with age related macular degeneration 113
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 111
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 106
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 101
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 100
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 99
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study 78
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 71
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 63
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 61
null 35
Totale 7.245
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Categoria #
all - tutte 22.440
article - articoli 22.003
book - libri 0
conference - conferenze 437
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 44.880
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20261.949 291 77 105 136 249 129 275 96 119 169 137 166
2026/2027183 183 0 0 0 0 0 0 0 0 0 0 0
Totale 7.245