IRIS
BELLONE, EMILIA
 Distribuzione geografica
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Continente #
EU - Europa 15.885
NA - Nord America 1.861
AS - Asia 1.756
Continente sconosciuto - Info sul continente non disponibili 203
SA - Sud America 165
AF - Africa 24
OC - Oceania 4
Totale 19.898
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Nazione #
IT - Italia 15.565
US - Stati Uniti d'America 1.726
SG - Singapore 669
CN - Cina 454
VN - Vietnam 291
BD - Bangladesh 138
FR - Francia 123
BR - Brasile 88
CA - Canada 59
HK - Hong Kong 55
FI - Finlandia 41
NL - Olanda 33
MX - Messico 27
AR - Argentina 25
GB - Regno Unito 21
IN - India 21
JP - Giappone 19
DE - Germania 16
CO - Colombia 14
EC - Ecuador 14
IQ - Iraq 14
JM - Giamaica 13
ES - Italia 12
RU - Federazione Russa 12
CH - Svizzera 11
PH - Filippine 9
TR - Turchia 9
SA - Arabia Saudita 8
CL - Cile 7
HN - Honduras 7
ID - Indonesia 7
MY - Malesia 7
PK - Pakistan 7
VE - Venezuela 7
AL - Albania 6
AZ - Azerbaigian 6
GT - Guatemala 6
NI - Nicaragua 6
PL - Polonia 6
TH - Thailandia 6
CR - Costa Rica 5
IE - Irlanda 5
NP - Nepal 5
PY - Paraguay 5
UA - Ucraina 5
AU - Australia 4
LB - Libano 4
TW - Taiwan 4
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
BE - Belgio 2
DZ - Algeria 2
ET - Etiopia 2
HU - Ungheria 2
KE - Kenya 2
KZ - Kazakistan 2
MU - Mauritius 2
PE - Perù 2
RS - Serbia 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
TT - Trinidad e Tobago 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
BH - Bahrain 1
BJ - Benin 1
BM - Bermuda 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
GP - Guadalupe 1
HR - Croazia 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
Totale 19.689
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Città #
Genova 9.081
Genoa 3.979
Rapallo 1.224
Vado Ligure 987
San Jose 425
Singapore 307
Ashburn 148
Lauterbourg 112
Ho Chi Minh City 95
Beijing 91
New York 70
Hanoi 65
Council Bluffs 50
Los Angeles 49
Hong Kong 48
Santa Clara 45
Helsinki 39
Chicago 28
Bordighera 27
Milan 25
Phoenix 22
Dallas 21
Rome 21
Tokyo 18
Buffalo 14
Mexico City 14
Montreal 14
São Paulo 14
Orem 13
Toronto 13
Amsterdam 12
Da Nang 12
Houston 11
Frankfurt am Main 10
Las Vegas 10
Miami 10
Naples 10
Philadelphia 10
San Francisco 10
Atlanta 9
Cincinnati 9
Haiphong 9
Jacksonville 9
Tianjin 9
Zurich 9
Boardman 8
Bắc Ninh 7
Baghdad 6
Bari 6
Brooklyn 6
Kingston 6
Managua 6
Nashville 6
Shanghai 6
Turin 6
Washington 6
Baku 5
Can Tho 5
Charleston 5
City of London 5
Des Moines 5
Dublin 5
Guatemala City 5
Jeddah 5
Minneapolis 5
New Orleans 5
Pittsburgh 5
Queens 5
San José 5
Warsaw 5
Biên Hòa 4
Busnago 4
Charlotte 4
Chennai 4
Columbus 4
Erie 4
Huntsville 4
Louisville 4
Mumbai 4
Novate Milanese 4
Nuremberg 4
Ottawa 4
Piscataway 4
Riverside 4
Alessandria 3
Amman 3
Bagno a Ripoli 3
Bishkek 3
Bogotá 3
Bologna 3
Boydton 3
Cairo 3
Cardiff 3
Cleveland 3
Conway 3
Denver 3
Detroit 3
Florence 3
Guangzhou 3
Guayaquil 3
Totale 17.451
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 409
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. 255
17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 247
Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. 241
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 240
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients 219
Does parkin play a role in the peripheral nervous system? A family report 218
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 217
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 212
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients 209
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 207
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 207
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 204
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. 204
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 204
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 203
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. 202
Hereditary motor and sensory neuropathy with myelin outfolding: clinical, genetic and neuropathological study of three cases 198
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. 196
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course 196
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 196
AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS 195
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. 195
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 194
Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A 194
Clinical and genetic study of essential tremor in the Italian population. 193
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 189
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy 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. 187
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years 187
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients. 183
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? 183
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations 182
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment 181
Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies 178
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 178
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. 176
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 176
Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. 174
HMSN III phenotype due to homozygous expression of a dominant HMSN II gene. 173
Innovative quantitative testing of hand function in Charcot-Marie-Tooth neuropathy 173
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). 173
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. 171
Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. 170
T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype. 170
Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype. 170
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 170
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. 169
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease 167
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 166
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 165
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. 165
Contribution of copy number variations in CMT1X: a retrospective study. 162
Expanding the spectrum of genes responsible for hereditary motor neuropathies. 162
De novo duplication in Charcot-Marie Tooth type 1A. 161
Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus. 161
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients. 160
Germline mutations in the von Hippel-Lindau gene in Italian patients. 159
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region. 158
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies 155
Essential tremor is not associated with alpha-synuclein gene haplotypes 153
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 153
Linkage exclusion in Italian families with hereditary essential tremor. 152
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 151
Different consequences of EGR2 mutants on the transactivation of human CX32 promoter 150
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 149
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. 148
GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO 148
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 146
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD. 146
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 146
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 144
Reliability and reproducibility of a RNA preamplification method for low-density array analysis from formalin-fixed paraffin-embedded breast cancer samples. 143
The FIG4 gene does not play a major role in causing ALS in Italian patients. 143
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. 142
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding 141
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies 141
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 140
Family and molecular data for a fine analysis of age at onset in Huntington disease 140
Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease. 138
Von Hippel-Lindau (VHL) gene analysis in Italian families with VHL disease. 138
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome. 137
Forensic applications of molecular genetic analysis: An Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms 136
Gene symbol: GNE. Disease: Inclusion body myopathy. 135
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT 134
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 134
Genetic analysis of Huntington disease in Italy. 132
Tinetti and Berg balance scales correlate with disability in hereditary peripheral neuropathies: a preliminary study 132
Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies 130
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 130
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. 130
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS 128
DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients 128
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 128
Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease. 127
Comments on Davar et al., Pain, 67 (1996) 135-139. 127
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY 126
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 126
Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients 123
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 123
Totale 17.014
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Categoria #
all - tutte 63.365
article - articoli 61.942
book - libri 0
conference - conferenze 1.423
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 126.730
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.235 0 0 165 155 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
2025/20264.644 610 170 235 351 582 381 756 255 298 438 310 258
2026/20271.028 466 239 323 0 0 0 0 0 0 0 0 0
Totale 19.898