IRIS
BELLONE, EMILIA
 Distribuzione geografica
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Continente #
EU - Europa 15.838
AS - Asia 1.736
NA - Nord America 1.389
Continente sconosciuto - Info sul continente non disponibili 201
SA - Sud America 158
AF - Africa 24
OC - Oceania 4
Totale 19.350
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Nazione #
IT - Italia 15.527
US - Stati Uniti d'America 1.286
SG - Singapore 669
CN - Cina 452
VN - Vietnam 289
BD - Bangladesh 139
FR - Francia 122
BR - Brasile 84
HK - Hong Kong 53
CA - Canada 41
FI - Finlandia 41
NL - Olanda 30
MX - Messico 26
AR - Argentina 24
GB - Regno Unito 21
IN - India 18
JP - Giappone 18
EC - Ecuador 14
IQ - Iraq 14
DE - Germania 13
CO - Colombia 12
ES - Italia 12
RU - Federazione Russa 12
CH - Svizzera 11
JM - Giamaica 9
TR - Turchia 9
PH - Filippine 8
CL - Cile 7
ID - Indonesia 7
PK - Pakistan 7
VE - Venezuela 7
AL - Albania 6
AZ - Azerbaigian 6
PL - Polonia 6
SA - Arabia Saudita 6
GT - Guatemala 5
HN - Honduras 5
IE - Irlanda 5
NI - Nicaragua 5
PY - Paraguay 5
UA - Ucraina 5
AU - Australia 4
MY - Malesia 4
NP - Nepal 4
TH - Thailandia 4
TW - Taiwan 4
CR - Costa Rica 3
EG - Egitto 3
GR - Grecia 3
IL - Israele 3
JO - Giordania 3
KG - Kirghizistan 3
LT - Lituania 3
RO - Romania 3
SE - Svezia 3
SV - El Salvador 3
ZA - Sudafrica 3
AT - Austria 2
DZ - Algeria 2
ET - Etiopia 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
MU - Mauritius 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
AG - Antigua e Barbuda 1
AM - Armenia 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BE - Belgio 1
BH - Bahrain 1
BJ - Benin 1
BW - Botswana 1
BZ - Belize 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GE - Georgia 1
GF - Guiana Francese 1
GH - Ghana 1
HR - Croazia 1
HU - Ungheria 1
IS - Islanda 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LV - Lettonia 1
MM - Myanmar 1
MN - Mongolia 1
NG - Nigeria 1
OM - Oman 1
PA - Panama 1
PR - Porto Rico 1
PT - Portogallo 1
Totale 19.145
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Città #
Genova 9.081
Genoa 3.978
Rapallo 1.224
Vado Ligure 987
San Jose 319
Singapore 307
Ashburn 135
Lauterbourg 112
Ho Chi Minh City 94
Beijing 90
Hanoi 65
New York 63
Council Bluffs 49
Hong Kong 47
Helsinki 39
Los Angeles 39
Santa Clara 34
Bordighera 27
Milan 19
Chicago 18
Rome 18
Tokyo 17
Dallas 16
Mexico City 14
Montreal 13
Orem 13
Phoenix 13
São Paulo 13
Amsterdam 12
Buffalo 12
Da Nang 12
Houston 10
Toronto 10
Frankfurt am Main 9
Haiphong 9
Tianjin 9
Zurich 9
Atlanta 8
Boardman 8
Las Vegas 8
Naples 8
Bắc Ninh 7
Philadelphia 7
Baghdad 6
Bari 6
Cincinnati 6
Shanghai 6
Baku 5
Brooklyn 5
Can Tho 5
Charleston 5
City of London 5
Dublin 5
Jacksonville 5
Kingston 5
Managua 5
Miami 5
San Francisco 5
Turin 5
Warsaw 5
Washington 5
Biên Hòa 4
Busnago 4
Chennai 4
Des Moines 4
Erie 4
Guatemala City 4
Jeddah 4
Louisville 4
Minneapolis 4
Nashville 4
Novate Milanese 4
Piscataway 4
Washington Court House 4
Alessandria 3
Amman 3
Bagno a Ripoli 3
Bishkek 3
Bogotá 3
Bologna 3
Boydton 3
Cairo 3
Cardiff 3
Charlotte 3
Columbus 3
Florence 3
Guangzhou 3
Guayaquil 3
Jakarta 3
London 3
Manchester 3
Memphis 3
Metairie 3
Mumbai 3
New Orleans 3
Nuremberg 3
Paris 3
Quảng Ngãi 3
Rio de Janeiro 3
Salem 3
Totale 17.206
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 396
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 242
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 239
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 235
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 234
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 216
Does parkin play a role in the peripheral nervous system? A family report 214
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 213
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 208
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 206
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 203
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 203
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 202
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 200
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 200
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. 198
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 197
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 196
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 194
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 193
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 193
Clinical and genetic study of essential tremor in the Italian population. 192
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 192
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 192
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 190
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 187
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. 185
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 182
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 180
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 180
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 180
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 178
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 177
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 175
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 175
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 173
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 171
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. 170
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). 170
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 169
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 169
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 169
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 168
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 167
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 166
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 166
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 165
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 165
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 164
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 164
Contribution of copy number variations in CMT1X: a retrospective study. 161
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 161
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 159
Germline mutations in the von Hippel-Lindau gene in Italian patients. 158
De novo duplication in Charcot-Marie Tooth type 1A. 156
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 156
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 156
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 155
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 155
Linkage exclusion in Italian families with hereditary essential tremor. 151
Essential tremor is not associated with alpha-synuclein gene haplotypes 150
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 149
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 148
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 147
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 146
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 146
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 146
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 145
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 143
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 143
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 143
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. 142
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples. 141
The FIG4 gene does not play a major role in causing ALS in Italian patients. 141
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 138
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 138
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding 137
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 136
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 135
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. 135
Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 134
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 134
Family and molecular data for a fine analysis of age at onset in Huntington disease 133
Gene symbol: GNE. Disease: Inclusion body myopathy. 132
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 131
Genetic analysis of Huntington disease in Italy. 131
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 130
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 129
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 129
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 127
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients 126
Comments on Davar et al., Pain, 67 (1996) 135-139. 126
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 125
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies 125
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 122
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease. 122
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 121
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 121
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 121
Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients 120
Totale 16.619
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Categoria #
all - tutte 60.795
article - articoli 59.424
book - libri 0
conference - conferenze 1.371
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 121.590
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20264.655 610 170 235 351 582 381 756 255 298 438 312 267
2026/2027469 469 0 0 0 0 0 0 0 0 0 0 0
Totale 19.350