IRIS
ORIGONE, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 5.620
AS - Asia 53
SA - Sud America 5
Totale 5.678
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Nazione #
IT - Italia 5.619
CN - Cina 41
SG - Singapore 8
BR - Brasile 4
VN - Vietnam 4
EC - Ecuador 1
RU - Federazione Russa 1
Totale 5.678
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Città #
Genova 2.847
Genoa 1.836
Rapallo 522
Vado Ligure 402
Beijing 14
Bordighera 11
Hanoi 1
Ho Chi Minh City 1
Hải Dương 1
Joinville 1
Ouro Fino 1
Samambaia 1
São Fidélis 1
Tây Ninh 1
Yantzaza 1
Totale 5.641
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Nome #
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 190
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 189
I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families. 180
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 180
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 180
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 172
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 170
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 170
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 169
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 164
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 160
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 160
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. 159
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 155
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. 152
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 145
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 143
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 143
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 142
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 133
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 127
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 125
The FIG4 gene does not play a major role in causing ALS in Italian patients. 124
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 122
Novel MC1R variants in Ligurian melanoma patients and controls 120
The Genoa experience of prenatal diagnosis in NF1 120
GIST mutational status and survival 119
HFE p.H63D polymorphism does not influence ALS phenotype and survival 118
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 116
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 115
The role of anterior prefrontal cortex in prospective memory: an exploratory FDG-PET study in early Alzheimer's disease 105
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 101
Identification of the Nramp gene in TV-1 fibroblasts from turbot Psetta maxima, formerly Scophthalmus maximus L. 1758 (Pisces: Scophthalmidae) 100
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 91
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 88
Mutation analysis of oxisterol-binding-protein (OSBP2) gene in patients with age related macular degeneration 83
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 77
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 77
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 74
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 73
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 68
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 65
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 65
Clinical and metabolic profiles in behavioural frontotemporal dementia: Impact of age at onset 55
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 47
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 38
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study 38
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family 35
null 35
Totale 5.777
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Categoria #
all - tutte 18.714
article - articoli 18.346
book - libri 0
conference - conferenze 368
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 37.428
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021269 0 0 0 46 16 25 19 35 23 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
2024/20251.175 39 64 26 85 127 112 102 226 56 56 137 145
2025/2026647 309 79 115 144 0 0 0 0 0 0 0 0
Totale 5.777