IRIS
CONFORTI, Francesca Luisa
 Distribuzione geografica
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Continente #
NA - Nord America 11.401
AS - Asia 8.202
EU - Europa 4.338
SA - Sud America 2.289
AF - Africa 283
OC - Oceania 37
Continente sconosciuto - Info sul continente non disponibili 16
AN - Antartide 3
Totale 26.569
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Nazione #
US - Stati Uniti d'America 10.804
SG - Singapore 4.141
UA - Ucraina 1.936
BR - Brasile 1.774
CN - Cina 1.682
DE - Germania 1.178
VN - Vietnam 883
CA - Canada 440
TR - Turchia 393
HK - Hong Kong 327
IT - Italia 311
SE - Svezia 281
AR - Argentina 199
AT - Austria 134
KR - Corea 126
BD - Bangladesh 114
EC - Ecuador 93
IQ - Iraq 93
FI - Finlandia 86
IN - India 81
MX - Messico 77
ZA - Sudafrica 76
RU - Federazione Russa 75
ID - Indonesia 69
BE - Belgio 68
GB - Regno Unito 62
MA - Marocco 54
PK - Pakistan 45
VE - Venezuela 43
CO - Colombia 42
FR - Francia 41
PY - Paraguay 37
SN - Senegal 37
CL - Cile 36
AU - Australia 33
UZ - Uzbekistan 33
NL - Olanda 28
KE - Kenya 27
PE - Perù 27
AL - Albania 26
UY - Uruguay 25
EG - Egitto 24
AE - Emirati Arabi Uniti 20
AZ - Azerbaigian 20
SA - Arabia Saudita 18
TN - Tunisia 18
JP - Giappone 17
ES - Italia 16
JO - Giordania 16
PL - Polonia 15
NP - Nepal 14
OM - Oman 14
CR - Costa Rica 13
EU - Europa 13
LB - Libano 13
JM - Giamaica 12
DZ - Algeria 11
BO - Bolivia 10
CZ - Repubblica Ceca 10
DO - Repubblica Dominicana 10
KG - Kirghizistan 10
PA - Panama 10
IL - Israele 9
KZ - Kazakistan 9
NI - Nicaragua 9
SY - Repubblica araba siriana 9
ET - Etiopia 8
IE - Irlanda 8
GT - Guatemala 7
BG - Bulgaria 6
BH - Bahrain 6
BY - Bielorussia 6
EE - Estonia 6
GE - Georgia 6
MY - Malesia 6
PS - Palestinian Territory 6
RS - Serbia 6
AO - Angola 5
GA - Gabon 5
HN - Honduras 5
HU - Ungheria 5
MN - Mongolia 5
SV - El Salvador 5
TT - Trinidad e Tobago 5
BA - Bosnia-Erzegovina 4
BW - Botswana 4
IR - Iran 4
MD - Moldavia 4
RO - Romania 4
AM - Armenia 3
CH - Svizzera 3
CI - Costa d'Avorio 3
GY - Guiana 3
LT - Lituania 3
SK - Slovacchia (Repubblica Slovacca) 3
XK - ???statistics.table.value.countryCode.XK??? 3
AD - Andorra 2
AQ - Antartide 2
BB - Barbados 2
DK - Danimarca 2
Totale 26.532
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Città #
Chandler 2.862
Singapore 1.665
Jacksonville 1.329
Dearborn 865
Boardman 770
Beijing 618
Dallas 406
San Mateo 395
Ashburn 392
Ottawa 382
Lawrence 345
Roxbury 344
Ho Chi Minh City 341
Izmir 341
Shanghai 264
Des Moines 241
Hanoi 172
Seoul 126
São Paulo 125
Ann Arbor 116
New York 114
Hong Kong 113
Cambridge 111
Vienna 105
Wilmington 96
Los Angeles 80
Brooklyn 79
Hefei 79
Helsinki 70
Brussels 67
San Francisco 53
Rio de Janeiro 52
Munich 50
Haiphong 46
Baghdad 39
Belo Horizonte 37
Dakar 37
Johannesburg 36
Inglewood 34
Seattle 34
Biên Hòa 32
Tianjin 32
Curitiba 31
Da Nang 31
Ogden 30
Quito 30
Tashkent 30
Brasília 29
Guangzhou 29
Guayaquil 29
Toronto 29
Jinan 27
Dhaka 25
Rende 25
Milan 24
Nanjing 24
Hải Dương 23
Santa Clara 23
Council Bluffs 22
Montevideo 22
Nairobi 22
Cosenza 21
Guarulhos 21
Tirana 21
Wuhan 21
Campinas 20
Chicago 20
Ninh Bình 20
Fortaleza 19
Casablanca 18
Norwalk 18
Salvador 18
The Dalles 18
Buenos Aires 17
Baku 16
Cape Town 16
Florence 16
Frankfurt am Main 16
Porto Alegre 16
Amman 15
Asunción 15
Jakarta 15
Kocaeli 15
Recife 15
San Jose 15
Tokyo 15
Cairo 14
Changsha 14
Lahore 14
Lima 14
Bari 13
Bắc Ninh 13
Goiânia 13
Redwood City 13
Turku 13
Warsaw 13
Columbus 12
Palermo 12
Ribeirão Preto 12
Rome 12
Totale 14.619
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Nome #
R521C mutation in the FUS gene in a large Italian family 309
Leptin and Notch Signaling Cooperate in Sustaining Glioblastoma Multiforme Progression 162
A novel S379A TARDBP mutation associated to late-onset sporadic ALS 146
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 141
A new non-isotopic method for accurate detection of (CAG)n repeats causing Huntington's disease 134
A large Italian family with R521C mutation in the FUS/TLS gene 132
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2 129
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy 127
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy 127
A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers 126
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 126
A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2 125
A mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis 123
“A new insertion of CC in exon 4 of PMP22 gene in a patient with hereditary Neuropathy with Liability to pressure palsies (HNPP)” 122
Novel insights into the antagonistic effects of losartan against angiotensin ii/agtr1 signaling in glioblastoma cells 118
Angiogenin Gene And Amyotrophic Lateral Sclerosis In Southern Italy 116
“Analisi di linkage in una famiglia italiana affetta da paraparesi spastica autosomica recessiva” 115
A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy 114
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 114
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 113
Algerian olive germplasm and its relationships with the central‐western mediterranean varieties contributes to clarify cultivated olive diversification 109
Angiogenin gene and amyotrophic lateral sclerosis in southern italy 108
A mutational screening of the eIF2B5 gene in sib pairs affected by Multiple Sclerosis. 108
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 107
“A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter” 107
“Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria” 106
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes? 106
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis 104
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies 103
LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy 103
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 102
A novel mutation in the 3’ UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 99
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) 97
Clinical and genetic study of a large autosomal dominant Spastic Paraplegic family from Southern Italy 96
Report of an ALS case associated with a new mutation in the TARDBP gene 96
Cdk4 Regulates Glioblastoma Cell Invasion and Stemness and Is Target of a Notch Inhibitor Plus Resveratrol Combined Treatment 95
“Familial multiple sclerosis is not associated with eIF2B5 gene mutation in Southern Italy 95
“Molecular Testing in Neurofibromatosis type 1 (NF1) mutational spectrum, patterns of reccurrence and correlation with clinical features in Italy” 95
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia 95
A Novel Mutation in CX32 Identified in a Patient with Demyelinating Sensory-Motor Neuropathy and Secondary Axonopathy 94
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 94
“Un metodo semplice e veloce per confermare la diagnosi clinica di Atrofia Muscolare Spinale Autosomica Recessiva mediante DHPLC” 94
Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion 93
Sporadic ALS And VAPB Gene Mutations In Southern Italy 91
Traceability of “Tuscan PGI” extra virgin olive oils by 1H NMR metabolic profiles collection and analysis 91
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum 91
Association Study of the 5′UTR Intron of the FAD2-2 Gene With Oleic and Linoleic Acid Content in Olea europaea L 91
Brown-Vialetto-Van Laere Syndrome: a case report of a family from Italy 90
NeuroArray: A customized aCGH for the analysis of copy number variations in neurological disorders 90
“A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia 89
A novel mutation in the Notch3 gene in an Italian family with CADASIL 88
“HNPP due to a novel frameshift mutation of PMP22 gene 87
A novel missense mutationof the NF2 gene in a severely affected boy and his healthy father 87
CHCHD10 gene mutations in ALS patients of Italian ancestry 87
AUTOSOMAL DOMINANT BROWN-VIALETTO-VAN LAERE SYNDROME WITH UBQLN1 MUTATION 87
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis 87
“A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 “ 87
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 86
Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis 86
“Narrowing of the critical region in Autosomal Recessive Spastic Paraplegia linked to the SPG5 locus” 86
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 86
Rett syndrome phenotype following infantile acute encephalopathy 86
“Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosis Type 1 (NF1) gene in Southern Italian NF1 Patients 85
“Neurofibromatosis type2 (NF2) in children under 1 year of age: a clinical and molecular study 85
Inclusion body myopathy: an italian family with autosomal dominant inheritance 85
“Clinical and genetic study of large Charcot-Marie-Tooth type 2A family from southern Italy” 85
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in ALS patients 84
ALS and CHARGE syndrome: a clinical and genetic study 84
Ataxin-1 and Ataxin-2 Intermediate-Length Poly-Q Expansions in Als Patients 84
Two Novel Cysteine-Sparing NOTCH3 Mutations In Patients With CADASIL 84
“Mutational analysis NF1 patients screened for heart abnormalities 83
“A simple method to confirm clinical of Autosomal Spinal Muscular Atrophy by Denaturing High Performance Liquid chromatography 83
Individual oligogenic background in P.D91A-SOD1 amyotrophic lateral sclerosis patients 83
Dysregulated miRNAs as Biomarkers and Therapeutical Targets in Neurodegenerative Diseases 82
“A CADASIL case with mutation in exon 19 of the notch3 gene and diagnostic skin changes by electron microscopy”. 82
Clinical and molecular investigation in an unusual Rett Syndrome case 82
“Linkage analysis in an italian family with atosomal recessive Hereditary Spastic Paraplegia 82
MUTATIONAL ANALISYS OF GJB1, MPZ AND PMP22 GENES IN CMT PATIENTS FROM SOUTHERN ITALY 82
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia 82
Resveratrol, Epigallocatechin Gallate and Curcumin for Cancer Therapy: Challenges from Their Pro-Apoptotic Properties 81
“Suggestive eviodence for linkage to chromosome 4qter for autosomal dominant distal motor neuropathy” 81
“L-2-Hydroxyglutaric aciduria: clinical, genetic and MRI findings in an Italian patient” 81
Analysis of the (CAG)n repeat at IT15 locus in a population from Calabria 81
“Denaturing High Performance Liquid Chromatography (DHPLC) for the mutational analysis of the SPAST gene”, 81
“Further evidence that SPG3A gene mutations cause autosomal dominant hereditaty spastic paraplegia 81
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 81
Ile587Val Polymorphism of the eIF2B5 Gene as Susceptibility Factor for Multiple Sclerosis 80
Clinical and genetic study of a family with autosomal recessive Charcot-Marie-Tooth (CMT2AR) from Southern Italy mapping to 1q21.2-21.3 80
Charcot-Marie-Tooth disease type IA with 17p11.2 duplication: unusual phenotype in a large italian family 80
Mutational Screening In Patient With Charcot-Marie-Tooth Disease Type 2° 80
Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy 80
Novel MFN2 mutations in two familial cases with Charcot-Marie-Tooth type 2A 80
A Quattrone; M Muglia. * Titolo Next generation sequencing to identify the causative gene for distal hereditary motor neuropathy in an Italian patient. 80
“Identificazione di una nuova mutazione nel gene SOD1 in un paziente affetto da Diplegia Brachiale Amiotrofica” 80
Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents 80
“Mutational Screening of the Notch3 Gene in Patients from Southern Italy Affected by CADASIL: Identification of Four Novel Pathogenic Mutations” 79
“Mutational analysis in NF1 patients screened for heart abnormalities.” 79
Juvenile Hungtington’s disease presenting as progressive myoclonic epilepsy 79
Comparison of different techniques for detecting 17p12 duplication in CMT1A 78
Ile587Val Polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis 78
Totale 9.795
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Categoria #
all - tutte 172.967
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 172.967
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.124 0 0 0 0 0 358 7 339 23 364 22 11
2021/20222.428 5 209 22 50 202 78 42 501 41 8 373 897
2022/20234.648 588 433 372 697 515 494 10 580 563 107 139 150
2023/20241.860 248 93 130 56 84 122 73 202 121 94 103 534
2024/20253.854 237 800 72 84 167 84 61 353 636 191 558 611
2025/20267.867 1.860 359 561 1.090 3.184 813 0 0 0 0 0 0
Totale 27.080