IRIS
TREVISAN, LUCIA
 Distribuzione geografica
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Continente #
EU - Europa 1.744
AS - Asia 34
SA - Sud America 1
Totale 1.779
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Nazione #
IT - Italia 1.744
CN - Cina 24
SG - Singapore 6
VN - Vietnam 3
BR - Brasile 1
ID - Indonesia 1
Totale 1.779
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Città #
Genoa 1.012
Genova 388
Vado Ligure 188
Rapallo 151
Beijing 12
Bordighera 5
Ho Chi Minh City 2
Caetanópolis 1
South Tangerang 1
Thái Nguyên 1
Totale 1.761
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Nome #
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 161
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 160
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 142
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 135
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 125
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 119
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 101
597P Endometrial carcinoma and mismatch repair deficiency: Clinical association and universal screening for Lynch syndrome 91
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 91
An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report 75
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 72
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
The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis 57
Case report: Episodic ataxia without ataxia? 52
CLINICAL AND MOLECULAR CHARACTERIZATION AND GENOTYPE-PHENOTYPE CORRELATIONS OF PARKINSON'S DISEASE PATIENTS 48
Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: a 10-year experience in a single Italian Cancer Center 47
Different activity and toxicity of immunotherapy in monozygotic twins diagnosed with early triple-negative breast cancer: a case report 38
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study 37
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus 36
Neural oscillations modulation during working memory in pre-manifest and early Huntington’s disease 35
null 35
The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism 26
Genetics in Parkinson’s disease, state-of-the-art and future perspectives 24
Totale 1.840
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Categoria #
all - tutte 7.628
article - articoli 7.526
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 15.154
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202187 0 0 0 13 31 3 3 9 4 11 3 10
2021/2022111 3 3 3 5 7 8 8 20 9 15 11 19
2022/2023171 11 20 2 15 28 24 0 12 26 2 29 2
2023/2024217 17 10 6 22 10 41 14 12 10 15 18 42
2024/2025638 34 41 10 41 61 41 63 136 36 31 77 67
2025/2026400 169 41 90 100 0 0 0 0 0 0 0 0
Totale 1.840