IRIS
TREVISAN, LUCIA
 Distribuzione geografica
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Continente #
EU - Europa 969
Totale 969
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Nazione #
IT - Italia 969
Totale 969
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Città #
Genova 386
Genoa 241
Vado Ligure 193
Rapallo 145
Bordighera 4
Totale 969
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Nome #
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 118
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 116
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 106
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 106
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 101
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 69
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 66
597P Endometrial carcinoma and mismatch repair deficiency: Clinical association and universal screening for Lynch syndrome 50
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 45
null 35
The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis 31
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 29
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 24
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 22
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement 21
Case report: Episodic ataxia without ataxia? 16
Neural oscillations modulation during working memory in pre-manifest and early Huntington’s disease 16
The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism 15
Synchronous and metachronous primary colorectal cancers with concordant and discordant mismatch repair status 10
Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: a 10-year experience in a single Italian Cancer Center 10
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 7
Genetics in Parkinson’s disease, state-of-the-art and future perspectives 6
Totale 1.019
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Categoria #
all - tutte 4.768
article - articoli 4.768
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9.536
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020139 0 0 0 0 0 22 21 12 25 31 22 6
2020/2021106 9 6 4 13 31 3 3 9 4 11 3 10
2021/2022108 3 3 3 5 7 8 8 20 9 15 11 16
2022/2023164 10 19 1 15 28 23 0 11 24 2 29 2
2023/2024213 17 10 6 22 9 41 14 11 10 14 18 41
2024/2025231 34 45 12 41 61 38 0 0 0 0 0 0
Totale 1.019