Distribuzione geografica
Continente #
EU - Europa 14725
Totale 14725
Nazione #
IT - Italia 14725
Totale 14725
Città #
Genova 13254
Rapallo 1209
Genoa 262
Totale 14725
Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 187
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 159
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 150
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 134
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 134
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 129
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 128
Does parkin play a role in the peripheral nervous system? A family report 127
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 127
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 126
Intracortical inhibition and facilitation are abnormal in Huntington's disease: a paired magnetic stimulation study. 126
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 126
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 126
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. 124
Clinical epidemiology of ALS in Liguria, Italy. 124
Diagnostic genetic testing for Huntington's disease. 124
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 124
TNF-α gene polymorphisms: association with disease susceptibility and response to anti-TNF-α treatment in psoriatic arthritis 123
Clinical and genetic study of essential tremor in the Italian population. 122
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 122
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. 122
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 118
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 118
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 118
Variant Philadelphia translocations in CML: correlation with fragile sites. 116
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 116
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. 116
Suicidal ideation in a European Huntington's disease population 115
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register 115
Linkage exclusion in Italian families with hereditary essential tremor. 114
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 114
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 114
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 113
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. 113
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 113
null 113
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 112
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 112
null 112
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study 112
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 112
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 111
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 111
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 110
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 110
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 109
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. 109
Essential tremor is not associated with alpha-synuclein gene haplotypes 108
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 108
Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: a reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients. 108
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 108
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 107
Sonography of the median nerve in Charcot-Marie-Tooth disease 107
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 107
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 107
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 107
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 106
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. 105
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 105
Severe neuropathy after Diphtheria-Tetanus-Pertussis vaccination in a child carrying a novel frame-shift mutation in the small haet-shock protein 27 gene (HSPB1). 105
Clinical and genetic characteristics of late-onset Huntington's disease 103
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 102
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 102
null 101
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 101
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 101
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. 101
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 101
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 100
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 100
Genetic analysis of Huntington disease in Italy. 100
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis 99
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 99
Update upon efficacy and safety of etanercept for the treatment of spondyloarthritis and juvenile idiopathic arthritis 98
Cancer genetic counselling 97
null 96
Family and molecular data for a fine analysis of age at onset in Huntington disease 95
Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 95
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 95
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 95
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 95
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 94
The FIG4 gene does not play a major role in causing ALS in Italian patients. 93
Mapping brain morphological and functional conversion patterns in predementia late-onset bvFTD 93
Recommendations for the predictive genetic test in Huntington's disease. 93
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 92
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 91
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype 90
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy 90
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 87
HFE p.H63D polymorphism does not influence ALS phenotype and survival 87
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 86
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients 86
De novo duplication in Charcot-Marie Tooth type 1A. 86
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 86
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study 86
Non-random association between DNA markers and Huntington disease locus in the Italian population. 85
Exclusion of the SCN2B gene as candidate for CMT4B. 85
Contribution of copy number variations in CMT1X: a retrospective study. 85
Totale 10871
Categoria #
all - tutte 23432
article - articoli 23107
book - libri 0
conference - conferenze 325
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46864

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018463 0000 00 0265 4531392
2018/20191455 8261020 61140 5713 9227477407
2019/20204943 227140202306 472537 800374 480745494166
2020/20211571 144133166171 95110 150118 114168101101
2021/20222034 66136232217 74113 146453 7717594251
2022/20231475 21621226227 344368 5428 0000
Totale 14933