IRIS
ORIGONE, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 830
Totale 830
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Nazione #
IT - Italia 830
Totale 830
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Città #
Genova 402
Rapallo 268
Genoa 155
Bordighera 5
Totale 830
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Nome #
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier., file e268c4c8-e09b-a6b7-e053-3a05fe0adea1 281
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients, file e268c4ca-9e8d-a6b7-e053-3a05fe0adea1 177
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1, file e268c4c7-06dc-a6b7-e053-3a05fe0adea1 104
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, file e268c4ca-aa1c-a6b7-e053-3a05fe0adea1 85
null, file e268c4ce-697f-a6b7-e053-3a05fe0adea1 37
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia, file 4c42b711-cc1e-418c-aaee-53f4dd8886db 29
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry., file e268c4c7-9b93-a6b7-e053-3a05fe0adea1 17
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling., file e268c4c7-36c6-a6b7-e053-3a05fe0adea1 14
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?, file e268c4cc-3977-a6b7-e053-3a05fe0adea1 14
The FIG4 gene does not play a major role in causing ALS in Italian patients., file e268c4c7-2eab-a6b7-e053-3a05fe0adea1 13
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype., file e268c4c7-3467-a6b7-e053-3a05fe0adea1 11
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2, file e268c4cb-fc51-a6b7-e053-3a05fe0adea1 10
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results., file e268c4c7-0bd8-a6b7-e053-3a05fe0adea1 9
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation., file e268c4c7-2edc-a6b7-e053-3a05fe0adea1 8
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., file e268c4c6-d18b-a6b7-e053-3a05fe0adea1 6
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype., file e268c4c7-2edd-a6b7-e053-3a05fe0adea1 5
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72., file e268c4c6-cf3a-a6b7-e053-3a05fe0adea1 3
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT, file b7db703b-c661-4ab0-8565-b8cb0b264dff 2
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register, file e268c4c7-8502-a6b7-e053-3a05fe0adea1 1
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients, file e268c4c8-d771-a6b7-e053-3a05fe0adea1 1
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients., file e268c4c9-a157-a6b7-e053-3a05fe0adea1 1
Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis, Frontotemporal Degeneration & Parkinson’s Disease, file e268c4ca-a414-a6b7-e053-3a05fe0adea1 1
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient, file e268c4cb-34a3-a6b7-e053-3a05fe0adea1 1
Totale 830
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Categoria #
all - tutte 1.696
article - articoli 1.696
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.392
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202082 0 0 0 0 8 10 12 8 18 11 10 5
2020/2021117 6 10 4 6 9 8 6 20 12 15 13 8
2021/2022209 11 7 17 25 16 7 20 12 23 16 39 16
2022/2023319 13 39 42 34 38 50 28 24 8 7 25 11
2023/2024102 5 17 16 17 6 7 9 12 4 9 0 0
Totale 830