IRIS
CONFORTI, Francesca Luisa
 Distribuzione geografica
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Continente #
NA - Nord America 10.180
EU - Europa 3.864
AS - Asia 1.815
AF - Africa 36
OC - Oceania 32
SA - Sud America 26
Continente sconosciuto - Info sul continente non disponibili 13
AN - Antartide 1
Totale 15.967
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Nazione #
US - Stati Uniti d'America 9.775
UA - Ucraina 1.895
DE - Germania 1.104
CN - Cina 734
CA - Canada 403
SG - Singapore 398
TR - Turchia 374
SE - Svezia 269
HK - Hong Kong 251
IT - Italia 237
AT - Austria 125
BE - Belgio 65
FI - Finlandia 61
SN - Senegal 32
AU - Australia 30
GB - Regno Unito 21
FR - Francia 19
NL - Olanda 18
IN - India 17
EU - Europa 13
BR - Brasile 12
KR - Corea 11
ES - Italia 8
AR - Argentina 6
CZ - Repubblica Ceca 6
AL - Albania 5
IE - Irlanda 5
EE - Estonia 4
JP - Giappone 4
MY - Malesia 4
PL - Polonia 4
SA - Arabia Saudita 4
AZ - Azerbaigian 3
CH - Svizzera 3
CL - Cile 3
PE - Perù 3
RU - Federazione Russa 3
SK - Slovacchia (Repubblica Slovacca) 3
HU - Ungheria 2
ID - Indonesia 2
IL - Israele 2
MX - Messico 2
NZ - Nuova Zelanda 2
VN - Vietnam 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
CO - Colombia 1
DK - Danimarca 1
EC - Ecuador 1
EG - Egitto 1
GE - Georgia 1
GS - Georgia del Sud e Isole Sandwich Australi 1
HR - Croazia 1
IQ - Iraq 1
KH - Cambogia 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LT - Lituania 1
LV - Lettonia 1
MT - Malta 1
RO - Romania 1
TH - Thailandia 1
TN - Tunisia 1
Totale 15.967
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Città #
Chandler 2.862
Jacksonville 1.328
Dearborn 865
Boardman 770
San Mateo 395
Ottawa 381
Lawrence 345
Roxbury 344
Izmir 341
Ashburn 261
Shanghai 254
Singapore 246
Des Moines 241
Ann Arbor 116
Beijing 116
Cambridge 111
Vienna 99
Wilmington 91
New York 89
Brussels 65
Brooklyn 61
Helsinki 60
Los Angeles 50
San Francisco 45
Hong Kong 38
Inglewood 34
Dakar 32
Ogden 30
Seattle 28
Rende 25
Jinan 24
Nanjing 23
Hefei 22
Guangzhou 19
Toronto 19
Norwalk 18
Wuhan 17
Cosenza 16
Kocaeli 15
Florence 14
Milan 14
Redwood City 13
Bari 11
Melbourne 11
Seoul 11
Jiaxing 10
Kunming 10
Berlin 9
Canberra 9
Falkenstein 9
Nanchang 9
Ningbo 9
Salerno 9
Changsha 8
Sydney 8
Taizhou 8
Zhengzhou 8
Amsterdam 7
Clifton 7
Grafing 7
Hangzhou 7
Hoensbroek 7
Jinhua 7
Lamézia 7
Bremen 6
Camponogara 6
Falls Church 6
Fuzhou 6
Munich 6
Rome 6
Zola Predosa 6
Brno 5
Frankfurt am Main 5
Shenyang 5
Tirana 5
Wuxi 5
Yiwu 5
Giffone 4
Gunzenhausen 4
Haikou 4
Palermo 4
Paris 4
Riyadh 4
Santa Clara 4
Santarcangelo di Romagna 4
Tallinn 4
Venice 4
Vibo Valentia Marina 4
Warsaw 4
Bratislava 3
Chengdu 3
Columbus 3
Dublin 3
Farnborough 3
Hanover 3
Hebei 3
Lecce 3
Lima 3
Madrid 3
Palmi 3
Totale 10.278
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Nome #
R521C mutation in the FUS gene in a large Italian family 271
Leptin and Notch Signaling Cooperate in Sustaining Glioblastoma Multiforme Progression 97
“Analisi di linkage in una famiglia italiana affetta da paraparesi spastica autosomica recessiva” 95
A novel S379A TARDBP mutation associated to late-onset sporadic ALS 94
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 88
A new non-isotopic method for accurate detection of (CAG)n repeats causing Huntington's disease 84
A large Italian family with R521C mutation in the FUS/TLS gene 83
“A new insertion of CC in exon 4 of PMP22 gene in a patient with hereditary Neuropathy with Liability to pressure palsies (HNPP)” 82
“Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria” 79
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2 79
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy 77
“A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter” 77
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy 75
A new quantitative PCR assay for rapid detection of aploid deletion of exon 7 in SMA health carriers 74
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 74
A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2 72
A mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis 69
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 69
Angiogenin Gene And Amyotrophic Lateral Sclerosis In Southern Italy 69
A mutational screening of the eIF2B5 gene in sib pairs affected by Multiple Sclerosis. 67
A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy 66
“Familial multiple sclerosis is not associated with eIF2B5 gene mutation in Southern Italy 65
“Molecular Testing in Neurofibromatosis type 1 (NF1) mutational spectrum, patterns of reccurrence and correlation with clinical features in Italy” 65
Clinical and genetic study of a large autosomal dominant Spastic Paraplegic family from Southern Italy 65
CHCHD10 gene mutations in ALS patients of Italian ancestry 64
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 64
“Clinical and genetic study of large Charcot-Marie-Tooth type 2A family from southern Italy” 63
A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) 61
A novel mutation in the Notch3 gene in an Italian family with CADASIL 60
Rett syndrome phenotype following infantile acute encephalopathy 60
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 59
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 59
NeuroArray: A customized aCGH for the analysis of copy number variations in neurological disorders 59
Angiogenin gene and amyotrophic lateral sclerosis in southern italy 58
A novel mutation in the 3’ UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 58
A novel mutation in the Notch3 gene in an italian family with CADASIL: genetic and MRI Spectroscopic findings 58
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 58
“A Clinical And Molecular Study In Children Under 1 Year Of Age Affected By Neurofibromatosis Type 2 “ 58
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies 58
Brown-Vialetto-Van Laere Syndrome: a case report of a family from Italy 57
Traceability of “Tuscan PGI” extra virgin olive oils by 1H NMR metabolic profiles collection and analysis 57
A Quattrone; M Muglia. * Titolo Next generation sequencing to identify the causative gene for distal hereditary motor neuropathy in an Italian patient. 57
“Further evidence that SPG3A gene mutations cause autosomal dominant hereditaty spastic paraplegia 57
“Un metodo semplice e veloce per confermare la diagnosi clinica di Atrofia Muscolare Spinale Autosomica Recessiva mediante DHPLC” 57
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 56
“Two novel Notch3 mutations not involving cysteine residues in CADASIL patients 56
Inclusion body myopathy: an italian family with autosomal dominant inheritance 56
“A SPG3A gene mutation causes autosomal dominant spastic paraplegia in a large italian family” 56
Analysis of the (CAG)n repeat at IT15 locus in a population from Calabria 56
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum 56
“A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia 55
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 55
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis 55
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia 55
“Mutational analysis in NF1 patients screened for heart abnormalities.” 55
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus 55
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia 55
ALSRELATED FUS PROTEIN IS MISLOCALIZED TO CYTOPLASM AND IS RECRUITED INTO STRESS GRANULES IN FIBROBLASTS OF ASYMPTOMATIC FUS P525L MUTATION CARRIERS 54
“HNPP due to a novel frameshift mutation of PMP22 gene 54
Ataxin-1 and Ataxin-2 Intermediate-Length Poly-Q Expansions in Als Patients 54
“L-2-Hydroxyglutaric aciduria: clinical, genetic and MRI findings in an Italian patient” 54
“A CADASIL case with mutation in exon 19 of the notch3 gene and diagnostic skin changes by electron microscopy”. 54
Clinical and molecular investigation in an unusual Rett Syndrome case 54
Report of an ALS case associated with a new mutation in the TARDBP gene 54
Charcot-Marie-Tooth disease type IA with 17p11.2 duplication: unusual phenotype in a large italian family 54
AUTOSOMAL DOMINANT BROWN-VIALETTO-VAN LAERE SYNDROME WITH UBQLN1 MUTATION 54
A Novel Notch3 Gene Mutation In A Patient With Cadasil From Southern Italy 54
TBK1 is associated with ALS and ALS-FTD in Sardinian patients 54
Novel insights into the antagonistic effects of losartan against angiotensin ii/agtr1 signaling in glioblastoma cells 54
Mutational Screening In Patient With Charcot-Marie-Tooth Disease Type 2° 53
Two Novel Cysteine-Sparing NOTCH3 Mutations In Patients With CADASIL 53
Sporadic ALS And VAPB Gene Mutations In Southern Italy 53
“Denaturing High Performance Liquid Chromatography (DHPLC) for the mutational analysis of the SPAST gene”, 53
“ Identificazione Di Una Nuova Mutazione Nel Gene PMP22 In Un Paziente Affetto Da HNPP” 53
Novel human pathological mutations. Gene symbol: NOTCH3 Disease: CADASIL 53
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in ALS patients 52
FUS gene analysis in Amyotrophic Lateral Sclerosis patients in South Italy 52
“Linkage analysis in an italian family with atosomal recessive Hereditary Spastic Paraplegia 52
A novel mutation in the Notch3 gene in an italian family with CADASIL 52
“Neurofibromatosis type2 (NF2) in children under 1 year of age: a clinical and molecular study 52
MUTATIONAL ANALISYS OF GJB1, MPZ AND PMP22 GENES IN CMT PATIENTS FROM SOUTHERN ITALY 52
Charcot-Marie-Tooth Type 2A Associate with Two Novel MFN2 Mutations 52
Mutation analysis of the MECP2 gene in patients with Rett syndrome 52
“Clinical and genetic study of an Italian family with CADASIL: a novel Notch3 mutation not involving a cysteine residue 52
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING 52
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis 52
Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion 51
Gene conversion event in adul-onser Spinal Muscular Atrophy 51
“Narrowing of the critical region in Autosomal Recessive Spastic Paraplegia linked to the SPG5 locus” 51
“Mutational analysis NF1 patients screened for heart abnormalities 51
“The spectrum of Notch3 Mutations in 28 Italian CADASIL families 51
An Intronic Nucleotide Change in the SPAST Gene Might Produce an Aberrant Protein Transcript 51
Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy 51
Gene conversion events in adult-onset Spinal Muscular Atrophy 51
NOTCH3 gene mutations in twins with CADASIL 51
“Identificazione di una nuova mutazione nel gene SOD1 in un paziente affetto da Diplegia Brachiale Amiotrofica” 51
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes? 51
ALS and CHARGE syndrome: a clinical and genetic study 50
EXOME SEQUENCING REVEALS TWO COMPOUND HETEROZYGOUS DDHD2 MUTATIONS IN A NON CONSANGUINEOUS SICILIAN FAMILY WITH ARHSP-TCC 50
“Angiogenin Gene and Amyotrophic Lateral Sclerosis in Southern Italy” 50
Totale 6.188
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Categoria #
all - tutte 105.319
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 105.319
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.800 0 0 5 332 161 931 245 398 47 29 337 315
2020/20212.224 399 1 334 356 10 358 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
2024/20251.086 237 800 49 0 0 0 0 0 0 0 0 0
Totale 16.445