IRIS
BELLONE, EMILIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 11.467
Totale 11.467
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 11.467
Totale 11.467
Salva come PNG Salva come JPEG
Città #
Genova 9.081
Rapallo 1.224
Genoa 1.135
Bordighera 27
Totale 11.467
Salva come PNG Salva come JPEG
Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 208
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 177
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 150
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 149
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 149
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 144
Does parkin play a role in the peripheral nervous system? A family report 143
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. 138
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 138
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 138
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 135
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 135
Clinical and genetic study of essential tremor in the Italian population. 135
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 133
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 133
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 132
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 132
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 132
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. 132
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 131
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 130
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 130
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 130
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 127
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 125
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 124
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 124
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 124
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 123
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 122
Germline mutations in the von Hippel-Lindau gene in Italian patients. 120
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 119
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 119
Linkage exclusion in Italian families with hereditary essential tremor. 118
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 118
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 118
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 118
Essential tremor is not associated with alpha-synuclein gene haplotypes 116
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 115
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 115
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 115
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 114
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 114
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 114
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 114
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 114
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). 114
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. 113
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 112
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. 112
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 111
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 111
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 111
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 110
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 109
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 109
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples. 107
Genetic analysis of Huntington disease in Italy. 107
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 106
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 106
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 105
The FIG4 gene does not play a major role in causing ALS in Italian patients. 105
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 104
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 104
Family and molecular data for a fine analysis of age at onset in Huntington disease 103
Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 101
Contribution of copy number variations in CMT1X: a retrospective study. 101
De novo duplication in Charcot-Marie Tooth type 1A. 99
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 98
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 97
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 97
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients 93
Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients 93
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 93
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 91
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 90
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 89
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 89
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 89
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease. 87
Non-random association between DNA markers and Huntington disease locus in the Italian population. 87
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 85
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 85
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. 83
Gene symbol: GNE. Disease: Inclusion body myopathy. 82
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding 82
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 82
Comments on Davar et al., Pain, 67 (1996) 135-139. 81
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 79
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 77
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 76
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 74
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 74
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies 72
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 72
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 71
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 68
Nerve ultrasound in patients with CMT1C: Description of three cases. 67
Outcome measures and rehabilitation treatment in patients affected by Charcot-Marie-Tooth neuropathy: a pilot study. 64
Homozygous hypertrophic hereditary motor and sensory neuropathies. 62
Totale 10.973
Salva come PNG Salva come JPEG
Categoria #
all - tutte 32.284
article - articoli 31.612
book - libri 0
conference - conferenze 672
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 64.568
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.132 150 76 142 176 283 326 504 219 298 502 339 117
2020/20211.023 100 75 97 104 68 68 116 63 92 108 73 59
2021/20221.388 48 105 165 155 51 55 114 289 41 125 73 167
2022/20231.453 139 150 18 149 258 227 4 113 240 8 128 19
2023/2024902 55 100 23 119 62 219 43 52 53 16 49 111
2024/202558 58 0 0 0 0 0 0 0 0 0 0 0
Totale 11.623