IRIS
BELLONE, EMILIA
 Distribuzione geografica
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Continente #
EU - Europa 15.689
AS - Asia 1.575
NA - Nord America 685
SA - Sud America 133
AF - Africa 24
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 18.112
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Nazione #
IT - Italia 15.400
SG - Singapore 659
US - Stati Uniti d'America 631
CN - Cina 437
VN - Vietnam 287
FR - Francia 119
BR - Brasile 74
HK - Hong Kong 53
FI - Finlandia 41
MX - Messico 26
NL - Olanda 22
AR - Argentina 21
GB - Regno Unito 21
IN - India 17
JP - Giappone 17
CA - Canada 16
IQ - Iraq 14
DE - Germania 13
EC - Ecuador 12
BD - Bangladesh 11
RU - Federazione Russa 11
CH - Svizzera 10
TR - Turchia 9
ES - Italia 8
PH - Filippine 8
ID - Indonesia 7
PK - Pakistan 7
AZ - Azerbaigian 6
CO - Colombia 6
SA - Arabia Saudita 6
AL - Albania 5
CL - Cile 5
IE - Irlanda 5
PL - Polonia 5
PY - Paraguay 5
UA - Ucraina 5
VE - Venezuela 5
AU - Australia 4
HN - Honduras 4
TH - Thailandia 4
TW - Taiwan 4
EG - Egitto 3
GR - Grecia 3
IL - Israele 3
JO - Giordania 3
KG - Kirghizistan 3
LT - Lituania 3
NP - Nepal 3
RO - Romania 3
SE - Svezia 3
ZA - Sudafrica 3
AT - Austria 2
CR - Costa Rica 2
DZ - Algeria 2
ET - Etiopia 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
MU - Mauritius 2
MY - Malesia 2
NI - Nicaragua 2
PE - Perù 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
UY - Uruguay 2
UZ - Uzbekistan 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AO - Angola 1
BH - Bahrain 1
BJ - Benin 1
BW - Botswana 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GE - Georgia 1
GF - Guiana Francese 1
GH - Ghana 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
IS - Islanda 1
JM - Giamaica 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LV - Lettonia 1
MN - Mongolia 1
NG - Nigeria 1
OM - Oman 1
PA - Panama 1
SI - Slovenia 1
SN - Senegal 1
SX - ???statistics.table.value.countryCode.SX??? 1
TZ - Tanzania 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 18.112
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Città #
Genova 9.081
Genoa 3.972
Rapallo 1.224
Vado Ligure 987
Singapore 301
San Jose 231
Lauterbourg 112
Ho Chi Minh City 94
Ashburn 78
Beijing 76
Hanoi 65
Council Bluffs 49
Hong Kong 47
Helsinki 39
New York 35
Bordighera 27
Santa Clara 23
Los Angeles 19
Tokyo 17
Mexico City 14
Amsterdam 12
Da Nang 12
Milan 12
Orem 12
São Paulo 12
Frankfurt am Main 9
Haiphong 9
Tianjin 9
Zurich 9
Bắc Ninh 7
Baghdad 6
Chicago 6
Dallas 6
Shanghai 6
Baku 5
Buffalo 5
Can Tho 5
City of London 5
Dublin 5
Montreal 5
Rome 5
Biên Hòa 4
Busnago 4
Chennai 4
Des Moines 4
Jeddah 4
Toronto 4
Warsaw 4
Amman 3
Bishkek 3
Cairo 3
Cardiff 3
Florence 3
Guangzhou 3
Guayaquil 3
Jakarta 3
London 3
Manchester 3
Nuremberg 3
Phoenix 3
Quảng Ngãi 3
Rio de Janeiro 3
Shenzhen 3
Stockholm 3
Sydney 3
Turin 3
Addis Ababa 2
Barcelona 2
Bari 2
Brugherio 2
Bến Tre 2
Cape Town 2
Caxias do Sul 2
Chongqing 2
Curitiba 2
Denver 2
Erbil 2
Ha Kwai Chung 2
Ha Long 2
Hangzhou 2
Houston 2
Hưng Yên 2
Hải Dương 2
Kolkata 2
Korçë 2
Lappeenranta 2
Madrid 2
Managua 2
Manila 2
Medellín 2
Montevideo 2
Monticello Conte Otto 2
Moscow 2
Mumbai 2
Nairobi 2
Naples 2
Paris 2
Pescara 2
Phúc Yên 2
Phủ Lý 2
Totale 16.803
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 354
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 233
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 229
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 222
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 205
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 205
Does parkin play a role in the peripheral nervous system? A family report 204
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 202
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 202
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 199
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 198
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 197
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 195
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 192
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. 191
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 190
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 190
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 187
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 187
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 187
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 184
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 182
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 182
Clinical and genetic study of essential tremor in the Italian population. 181
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 180
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 176
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. 175
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 174
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 172
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 170
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 169
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 168
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 167
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 167
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 166
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 166
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 165
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 164
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. 163
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 163
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 162
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 162
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). 162
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 161
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 161
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 161
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 160
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 160
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 159
Contribution of copy number variations in CMT1X: a retrospective study. 154
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 154
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 152
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 151
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 151
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 150
Germline mutations in the von Hippel-Lindau gene in Italian patients. 149
Essential tremor is not associated with alpha-synuclein gene haplotypes 148
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 148
De novo duplication in Charcot-Marie Tooth type 1A. 147
Linkage exclusion in Italian families with hereditary essential tremor. 145
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 144
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 143
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 142
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 142
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 141
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 139
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 138
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 138
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. 137
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples. 137
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 136
The FIG4 gene does not play a major role in causing ALS in Italian patients. 135
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 134
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 133
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 133
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 133
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 132
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. 132
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 131
Family and molecular data for a fine analysis of age at onset in Huntington disease 130
Genetic analysis of Huntington disease in Italy. 130
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 129
Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 129
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding 128
Gene symbol: GNE. Disease: Inclusion body myopathy. 126
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 126
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 124
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients 123
Comments on Davar et al., Pain, 67 (1996) 135-139. 123
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 122
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies 120
Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients 119
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 118
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 117
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 117
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 116
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease. 114
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 113
People with Charcot-Marie-Tooth disease and COVID-19: Impaired physical conditions due to the lockdown. An International cross-sectional survey 112
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 110
Totale 15.846
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Categoria #
all - tutte 55.867
article - articoli 54.603
book - libri 0
conference - conferenze 1.264
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 111.734
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021132 0 0 0 0 0 0 0 0 0 0 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
2024/20252.661 86 178 76 189 316 259 265 462 122 122 283 303
2025/20264.079 610 170 235 351 582 381 756 255 298 438 3 0
Totale 18.305