IRIS
ORIGONE, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 3.987
Totale 3.987
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Nazione #
IT - Italia 3.987
Totale 3.987
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Città #
Genova 2.847
Rapallo 522
Genoa 516
Vado Ligure 91
Bordighera 11
Totale 3.987
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Nome #
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 155
I112M SOD1 mutation causes ALS with rapid progression and reduced penetrance in four Mediterranean families. 153
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 151
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 149
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 140
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 135
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. 135
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 134
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 134
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 133
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 128
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. 127
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 125
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 119
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 115
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 112
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 110
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 109
Novel MC1R variants in Ligurian melanoma patients and controls 108
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient 108
The FIG4 gene does not play a major role in causing ALS in Italian patients. 107
The Genoa experience of prenatal diagnosis in NF1 107
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 106
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 104
HFE p.H63D polymorphism does not influence ALS phenotype and survival 103
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 101
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 100
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease 98
GIST mutational status and survival 93
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 92
Identification of the Nramp gene in TV-1 fibroblasts from turbot Psetta maxima, formerly Scophthalmus maximus L. 1758 (Pisces: Scophthalmidae) 76
The role of anterior prefrontal cortex in prospective memory: an exploratory FDG-PET study in early Alzheimer's disease 66
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 62
Mutation analysis of oxisterol-binding-protein (OSBP2) gene in patients with age related macular degeneration 61
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 46
null 35
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 31
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 25
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 24
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 17
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers 15
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 13
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation 12
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 1
Totale 4.075
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Categoria #
all - tutte 12.152
article - articoli 11.892
book - libri 0
conference - conferenze 260
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.304
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.042 0 0 38 83 107 129 167 94 119 171 101 33
2020/2021386 29 41 47 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
2024/2025120 39 64 17 0 0 0 0 0 0 0 0 0
Totale 4.075