Distribuzione geografica
Continente #
EU - Europa 1421
Totale 1421
Nazione #
IT - Italia 1421
Totale 1421
Città #
Genova 893
Rapallo 466
Genoa 62
Totale 1421
Nome #
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier., file e268c4c8-e09b-a6b7-e053-3a05fe0adea1 234
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy, file e268c4ca-0f0b-a6b7-e053-3a05fe0adea1 208
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients, file e268c4ca-9e8d-a6b7-e053-3a05fe0adea1 150
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study, file e268c4cb-43bc-a6b7-e053-3a05fe0adea1 100
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1, file e268c4c7-06dc-a6b7-e053-3a05fe0adea1 95
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise", file e268c4c9-fae8-a6b7-e053-3a05fe0adea1 91
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis, file e268c4ca-d14f-a6b7-e053-3a05fe0adea1 89
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, file e268c4ca-aa1c-a6b7-e053-3a05fe0adea1 73
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation, file e268c4ca-d144-a6b7-e053-3a05fe0adea1 68
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017, file e268c4cd-9362-a6b7-e053-3a05fe0adea1 44
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population., file e268c4c6-cefb-a6b7-e053-3a05fe0adea1 26
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry., file e268c4c7-9b93-a6b7-e053-3a05fe0adea1 16
The FIG4 gene does not play a major role in causing ALS in Italian patients., file e268c4c7-2eab-a6b7-e053-3a05fe0adea1 12
Contribution of copy number variations in CMT1X: a retrospective study., file e268c4c7-2ebc-a6b7-e053-3a05fe0adea1 12
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion, file e268c4c7-921c-a6b7-e053-3a05fe0adea1 12
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?, file e268c4cc-3977-a6b7-e053-3a05fe0adea1 12
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype., file e268c4c7-3467-a6b7-e053-3a05fe0adea1 11
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family., file e268c4c7-363e-a6b7-e053-3a05fe0adea1 10
SARS-CoV-2 infection and venous thromboembolism after surgery: an international prospective cohort study, file d5fbbd71-f35e-4da7-9c89-fb8db1da76ae 8
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results., file e268c4c7-0bd8-a6b7-e053-3a05fe0adea1 8
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens., file e268c4c7-3641-a6b7-e053-3a05fe0adea1 8
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia, file e268c4ce-697f-a6b7-e053-3a05fe0adea1 8
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 7
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study, file e268c4c5-ed4d-a6b7-e053-3a05fe0adea1 6
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
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 6
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years, file e268c4ce-a6fe-a6b7-e053-3a05fe0adea1 6
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome)., file e268c4c5-f6e2-a6b7-e053-3a05fe0adea1 5
Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms, file e268c4c6-1faa-a6b7-e053-3a05fe0adea1 5
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease., file e268c4c7-3469-a6b7-e053-3a05fe0adea1 5
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region., file e268c4c7-360c-a6b7-e053-3a05fe0adea1 5
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples., file e268c4c9-2854-a6b7-e053-3a05fe0adea1 5
TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis, file e268c4c6-b9c4-a6b7-e053-3a05fe0adea1 4
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation., file e268c4c7-2b42-a6b7-e053-3a05fe0adea1 4
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype., file e268c4c7-2edd-a6b7-e053-3a05fe0adea1 4
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family., file e268c4c7-9d40-a6b7-e053-3a05fe0adea1 4
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
Genetic counselling in ALS: facts, uncertainties and clinical suggestions., file e268c4c6-cf3b-a6b7-e053-3a05fe0adea1 3
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype., file e268c4c7-3615-a6b7-e053-3a05fe0adea1 3
Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients, file e268c4c7-3753-a6b7-e053-3a05fe0adea1 3
Genetic factors and systemic sclerosis, file e268c4c8-4822-a6b7-e053-3a05fe0adea1 3
Germline mutations in the von Hippel-Lindau gene in Italian patients., file e268c4c9-2850-a6b7-e053-3a05fe0adea1 3
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect, file e268c4c6-10db-a6b7-e053-3a05fe0adea1 2
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression., file e268c4c6-cda3-a6b7-e053-3a05fe0adea1 2
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease, file e268c4c7-37ce-a6b7-e053-3a05fe0adea1 2
Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis, file e268c4c9-96a8-a6b7-e053-3a05fe0adea1 2
β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease, file e268c4ca-ca56-a6b7-e053-3a05fe0adea1 2
Diagnostic genetic testing for Huntington's disease., file e268c4cb-19ea-a6b7-e053-3a05fe0adea1 2
null, file e268c4c5-fea2-a6b7-e053-3a05fe0adea1 1
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course, file e268c4c7-34d2-a6b7-e053-3a05fe0adea1 1
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register, file e268c4c7-8502-a6b7-e053-3a05fe0adea1 1
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa., file e268c4c8-5da1-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
Clinical and genetic characteristics of late-onset Huntington's disease, file e268c4cb-0f4e-a6b7-e053-3a05fe0adea1 1
TBK1 is associated with ALS and ALS-FTD in Sardinian patients., file e268c4cb-19e8-a6b7-e053-3a05fe0adea1 1
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype, file e268c4cb-1d44-a6b7-e053-3a05fe0adea1 1
A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient, file e268c4cb-34a3-a6b7-e053-3a05fe0adea1 1
Quiz page february 2015: renal colic in an adolescent., file e268c4cb-34a7-a6b7-e053-3a05fe0adea1 1
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study, file e268c4cb-43b7-a6b7-e053-3a05fe0adea1 1
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study, file e268c4cc-0070-a6b7-e053-3a05fe0adea1 1
People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey, file e268c4cd-4377-a6b7-e053-3a05fe0adea1 1
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus, file e268c4ce-fe56-a6b7-e053-3a05fe0adea1 1
Totale 1421
Categoria #
all - tutte 2507
article - articoli 2507
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5014

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20194 0000 20 10 0010
2019/2020181 1000 1416 1820 45292513
2020/2021316 19261828 2834 1935 25322725
2021/2022402 21202854 3818 2222 34258832
2022/2023511 257610365 72113 507 0000
Totale 1421