IRIS
CONFORTI, Francesca Luisa
 Distribuzione geografica
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Continente #
NA - Nord America 9.564
EU - Europa 3.893
AS - Asia 1.117
AF - Africa 36
OC - Oceania 34
SA - Sud America 25
Continente sconosciuto - Info sul continente non disponibili 13
AN - Antartide 1
Totale 14.683
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Nazione #
US - Stati Uniti d'America 9.148
UA - Ucraina 1.950
DE - Germania 1.125
CN - Cina 420
CA - Canada 414
TR - Turchia 385
SE - Svezia 282
HK - Hong Kong 251
IT - Italia 202
AT - Austria 125
BE - Belgio 71
FI - Finlandia 60
SN - Senegal 33
AU - Australia 32
FR - Francia 18
IN - India 16
GB - Regno Unito 14
NL - Olanda 14
EU - Europa 13
SG - Singapore 13
BR - Brasile 12
KR - Corea 12
AR - Argentina 6
ES - Italia 6
IE - Irlanda 5
JP - Giappone 4
PL - Polonia 4
CL - Cile 3
EE - Estonia 3
MY - Malesia 3
PE - Perù 3
SK - Slovacchia (Repubblica Slovacca) 3
AZ - Azerbaigian 2
CH - Svizzera 2
ID - Indonesia 2
MX - Messico 2
NZ - Nuova Zelanda 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
CO - Colombia 1
CZ - Repubblica Ceca 1
EG - Egitto 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IQ - Iraq 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
MT - Malta 1
RO - Romania 1
TN - Tunisia 1
VN - Vietnam 1
ZA - Sudafrica 1
Totale 14.683
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Città #
Chandler 2.923
Jacksonville 1.368
Dearborn 889
San Mateo 411
Ottawa 392
Lawrence 356
Roxbury 355
Izmir 352
Des Moines 248
Ashburn 215
Shanghai 125
Ann Arbor 119
Cambridge 114
Beijing 109
Vienna 99
Wilmington 94
New York 90
Brussels 71
Brooklyn 62
Helsinki 60
San Francisco 47
Los Angeles 42
Inglewood 40
Hong Kong 38
Dakar 33
Ogden 31
Seattle 31
Rende 25
Jinan 24
Hefei 23
Nanjing 23
Norwalk 20
Toronto 20
Kocaeli 15
Florence 14
Redwood City 13
Melbourne 12
Seoul 12
Bari 11
Canberra 10
Cosenza 10
Kunming 10
Berlin 9
Changsha 9
Falkenstein 9
Nanchang 9
Ningbo 9
Salerno 9
Zhengzhou 9
Sydney 8
Taizhou 8
Grafing 7
Hoensbroek 7
Lamézia 7
Bremen 6
Camponogara 6
Falls Church 6
Fuzhou 6
Guangzhou 6
Hangzhou 6
Shenyang 6
Zola Predosa 6
Frankfurt am Main 5
Giffone 4
Gunzenhausen 4
Haikou 4
Palermo 4
Paris 4
Rome 4
Santarcangelo di Romagna 4
Vibo Valentia Marina 4
Warsaw 4
Amsterdam 3
Bratislava 3
Chengdu 3
Columbus 3
Dublin 3
Hanover 3
Hebei 3
Lima 3
Palmi 3
Redmond 3
São Paulo 3
Tallinn 3
Tokyo 3
Agliè 2
Auckland 2
Baotou 2
Bengaluru 2
Buenos Aires 2
Canosa di Puglia 2
Central 2
Changchun 2
Charlotte 2
Chicago 2
Chongqing 2
Kuala Lumpur 2
Madrid 2
Mexico City 2
Naples 2
Totale 9.214
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Nome #
R521C mutation in the FUS gene in a large Italian family 266
“Analisi di linkage in una famiglia italiana affetta da paraparesi spastica autosomica recessiva” 91
Leptin and Notch Signaling Cooperate in Sustaining Glioblastoma Multiforme Progression 89
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 81
A large Italian family with R521C mutation in the FUS/TLS gene 77
“A new insertion of CC in exon 4 of PMP22 gene in a patient with hereditary Neuropathy with Liability to pressure palsies (HNPP)” 75
A novel S379A TARDBP mutation associated to late-onset sporadic ALS 75
A new non-isotopic method for accurate detection of (CAG)n repeats causing Huntington's disease 74
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2 74
“A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter” 73
“Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria” 72
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy 71
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy 69
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 68
A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers 67
A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2 62
A mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis 61
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 61
A mutational screening of the eIF2B5 gene in sib pairs affected by Multiple Sclerosis. 60
“Molecular Testing in Neurofibromatosis type 1 (NF1) mutational spectrum, patterns of reccurrence and correlation with clinical features in Italy” 59
Clinical and genetic study of a large autosomal dominant Spastic Paraplegic family from Southern Italy 59
CHCHD10 gene mutations in ALS patients of Italian ancestry 59
“Clinical and genetic study of large Charcot-Marie-Tooth type 2A family from southern Italy” 59
A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy 59
Angiogenin Gene And Amyotrophic Lateral Sclerosis In Southern Italy 59
“Familial multiple sclerosis is not associated with eIF2B5 gene mutation in Southern Italy 58
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 57
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 56
Rett syndrome phenotype following infantile acute encephalopathy 56
NeuroArray: A customized aCGH for the analysis of copy number variations in neurological disorders 55
A novel mutation in the 3’ UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 54
A novel mutation in the Notch3 gene in an italian family with CADASIL: genetic and MRI Spectroscopic findings 54
“A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 “ 54
“Un metodo semplice e veloce per confermare la diagnosi clinica di Atrofia Muscolare Spinale Autosomica Recessiva mediante DHPLC” 54
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) 54
A novel mutation in the Notch3 gene in an Italian family with CADASIL 53
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 53
Angiogenin gene and amyotrophic lateral sclerosis in southern italy 52
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 52
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL 52
“Further evidence that SPG3A gene mutations cause autosomal dominant hereditaty spastic paraplegia 52
ALSRELATED FUS PROTEIN IS MISLOCALIZED TO CYTOPLASM AND IS RECRUITED INTO STRESS GRANULES IN FIBROBLASTS OF ASYMPTOMATIC FUS P525L MUTATION CARRIERS 51
“Two novel Notch3 mutations not involving cysteine residues in CADASIL patients 51
Brown-Vialetto-Van Laere Syndrome: a case report of a family from Italy 51
Clinical and molecular investigation in an unusual Rett Syndrome case 51
Inclusion body myopathy: an italian family with autosomal dominant inheritance 51
“A SPG3A gene mutation causes autosomal dominant spastic paraplegia in a large italian family” 51
“A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia 51
Analysis of the (CAG)n repeat at IT15 locus in a population from Calabria 51
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum 51
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies 51
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 50
Ataxin-1 and Ataxin-2 Intermediate-Length Poly-Q Expansions in Als Patients 50
“A CADASIL case with mutation in exon 19 of the notch3 gene and diagnostic skin changes by electron microscopy”. 50
Report of an ALS case associated with a new mutation in the TARDBP gene 50
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 50
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia 50
“L-2-Hydroxyglutaric aciduria: clinical, genetic and MRI findings in an Italian patient” 49
A novel mutation in the Notch3 gene in an italian family with CADASIL 49
MUTATIONAL ANALISYS OF GJB1, MPZ AND PMP22 GENES IN CMT PATIENTS FROM SOUTHERN ITALY 49
AUTOSOMAL DOMINANT BROWN-VIALETTO-VAN LAERE SYNDROME WITH UBQLN1 MUTATION 49
“Mutational analysis in NF1 patients screened for heart abnormalities.” 49
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus 49
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia 49
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in ALS patients 48
“Mutational analysis NF1 patients screened for heart abnormalities 48
Charcot-Marie-Tooth disease type IA with 17p11.2 duplication: unusual phenotype in a large italian family 48
Mutational Screening In Patient With Charcot-Marie-Tooth Disease Type 2° 48
Two Novel Cysteine-Sparing NOTCH3 Mutations In Patients With CADASIL 48
Mutation analysis of the MECP2 gene in patients with Rett syndrome 48
A Quattrone; M Muglia. * Titolo Next generation sequencing to identify the causative gene for distal hereditary motor neuropathy in an Italian patient. 48
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 48
“ Identificazione Di Una Nuova Mutazione Nel Gene PMP22 In Un Paziente Affetto Da HNPP” 48
Comparison of different techniques for detecting 17p12 duplication in CMT1A 48
Novel human pathological mutations. Gene symbol: NOTCH3 Disease: CADASIL 48
Novel insights into the antagonistic effects of losartan against angiotensin ii/agtr1 signaling in glioblastoma cells 48
FUS gene analysis in Amyotrophic Lateral Sclerosis patients in South Italy 47
“HNPP due to a novel frameshift mutation of PMP22 gene 47
Ile587Val Polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis 47
“Neurofibromatosis type2 (NF2) in children under 1 year of age: a clinical and molecular study 47
“The spectrum of Notch3 Mutations in 28 Italian CADASIL families 47
“Denaturing High Performance Liquid Chromatography (DHPLC) for the mutational analysis of the Spast gene” 47
Gene conversion events in adult-onset Spinal Muscular Atrophy 47
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 47
“Clinical and genetic study of an Italian family with CADASIL: a novel Notch3 mutation not involving a cysteine residue 47
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 47
ALS and CHARGE syndrome: a clinical and genetic study 46
Exome sequencing of an Italian patient with dHMN 46
“Narrowing of the critical region in Autosomal Recessive Spastic Paraplegia linked to the SPG5 locus” 46
A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia 46
An Intronic Nucleotide Change in the SPAST Gene Might Produce an Aberrant Protein Transcript 46
Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy 46
Sporadic ALS And VAPB Gene Mutations In Southern Italy 46
“Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy 46
Traceability of “Tuscan PGI” extra virgin olive oils by 1H NMR metabolic profiles collection and analysis 46
“Denaturing High Performance Liquid Chromatography (DHPLC) for the mutational analysis of the SPAST gene”, 46
A simple and rapid non-isotopic method for sizing CAG repeats in the SCA1 gene 46
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING 46
“Identificazione di una nuova mutazione nel gene SOD1 in un paziente affetto da Diplegia Brachiale Amiotrofica” 46
ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation Carriers 46
Totale 5.629
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Categoria #
all - tutte 89.605
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 89.605
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019352 0 0 0 0 0 0 0 0 0 0 352 0
2019/20203.578 356 341 5 342 166 958 249 411 48 30 347 325
2020/20212.286 412 1 343 366 10 368 7 349 23 374 22 11
2021/20222.517 5 216 24 52 213 80 46 521 41 8 388 923
2022/20234.754 603 438 379 716 527 508 10 586 577 111 149 150
2023/20241.267 253 96 136 56 87 124 79 213 123 97 3 0
Totale 15.145