CNR Institutional Research Information System

CONFORTI, FRANCESCA LUISA
 Distribuzione geografica
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Continente #
AS - Asia 5.000
NA - Nord America 2.146
SA - Sud America 891
EU - Europa 863
AF - Africa 70
OC - Oceania 11
Totale 8.981
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Nazione #
SG - Singapore 2.146
US - Stati Uniti d'America 2.052
CN - Cina 1.166
BR - Brasile 727
HK - Hong Kong 485
VN - Vietnam 449
FR - Francia 327
KR - Corea 227
JP - Giappone 207
IT - Italia 189
DE - Germania 74
IN - India 71
AR - Argentina 65
GB - Regno Unito 62
NL - Olanda 60
BD - Bangladesh 41
CA - Canada 40
IL - Israele 36
FI - Finlandia 35
MX - Messico 32
EC - Ecuador 31
ID - Indonesia 30
TR - Turchia 23
UA - Ucraina 20
IQ - Iraq 19
VE - Venezuela 18
PL - Polonia 16
PY - Paraguay 15
ES - Italia 14
PK - Pakistan 14
ZA - Sudafrica 14
SA - Arabia Saudita 13
MA - Marocco 12
CO - Colombia 11
CL - Cile 10
EG - Egitto 10
PE - Perù 10
AT - Austria 9
IR - Iran 9
AZ - Azerbaigian 8
PH - Filippine 8
RU - Federazione Russa 8
SE - Svezia 8
TN - Tunisia 7
HN - Honduras 6
UZ - Uzbekistan 6
AU - Australia 5
DZ - Algeria 5
JO - Giordania 5
MY - Malesia 5
TT - Trinidad e Tobago 5
AE - Emirati Arabi Uniti 4
GR - Grecia 4
IE - Irlanda 4
JM - Giamaica 4
KE - Kenya 4
NP - Nepal 4
OM - Oman 4
RO - Romania 4
BG - Bulgaria 3
BY - Bielorussia 3
CZ - Repubblica Ceca 3
LB - Libano 3
MD - Moldavia 3
NZ - Nuova Zelanda 3
TW - Taiwan 3
UY - Uruguay 3
AL - Albania 2
AM - Armenia 2
CG - Congo 2
CI - Costa d'Avorio 2
ET - Etiopia 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LU - Lussemburgo 2
RE - Reunion 2
SI - Slovenia 2
SN - Senegal 2
SY - Repubblica araba siriana 2
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BE - Belgio 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
CH - Svizzera 1
CM - Camerun 1
CR - Costa Rica 1
DK - Danimarca 1
EE - Estonia 1
GE - Georgia 1
GM - Gambi 1
GP - Guadalupe 1
GT - Guatemala 1
HU - Ungheria 1
KI - Kiribati 1
LC - Santa Lucia 1
LT - Lituania 1
LV - Lettonia 1
Totale 8.966
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Città #
Singapore 1.321
Santa Clara 847
Hefei 522
Hong Kong 480
San Jose 290
Lauterbourg 236
Seoul 227
Tokyo 170
Beijing 159
Ho Chi Minh City 146
Ashburn 138
Hanoi 129
Los Angeles 65
São Paulo 42
Buffalo 38
New York 37
Minamishinagawa 36
Frankfurt am Main 32
Dallas 29
Helsinki 29
Orem 23
Rio de Janeiro 20
Bengaluru 17
Haiphong 16
Naples 16
Phoenix 15
Brasília 14
Council Bluffs 14
Da Nang 13
Guayaquil 13
Hải Dương 13
Montreal 13
Nuremberg 13
Warsaw 13
Belo Horizonte 12
Milan 12
Porto Alegre 12
Rome 12
Atlanta 11
Brooklyn 11
Betim 10
Campinas 10
Curitiba 10
Elk Grove Village 10
Guangzhou 10
Toronto 10
Bắc Ninh 9
Goiânia 9
London 9
Quito 9
Baku 8
Chicago 8
Dhaka 8
Düsseldorf 8
Portsmouth 8
Riyadh 8
Sorocaba 8
Thái Bình 8
Amsterdam 7
Can Tho 7
Denver 7
Manchester 7
Mumbai 7
New Delhi 7
Nha Trang 7
Quận Bình Thạnh 7
Quận Một 7
Ankara 6
Asunción 6
Baghdad 6
Bari 6
Buenos Aires 6
Juiz de Fora 6
Maceió 6
Mexico City 6
Porto Seguro 6
Recife 6
Shanghai 6
Sumaré 6
Triggiano 6
Amman 5
Bologna 5
Cao Lanh 5
Charlotte 5
Delhi 5
Dossobuono 5
Fortaleza 5
Guarulhos 5
Houston 5
Istanbul 5
Jakarta 5
Ninh Bình 5
Piracicaba 5
Quảng Ninh 5
Shenzhen 5
Stockholm 5
Uberlândia 5
Vũng Tàu 5
Wilmington 5
Biên Hòa 4
Totale 5.656
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Nome #
Ile587Val polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis 84
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments 80
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 79
Mutational screening of the eIF2B5 gene in sib pairs affected by multiple sclerosis. 77
Conventional MRI and NOTCH3 gene screening in sporadic CADASIL. 76
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING. 75
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 72
Gene Symbol: MECP2. Disease: Rett Syndrome. 69
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 68
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies 68
Two Novel Cysteine-Sparing Notch3 Mutations In Patients With CADASIL 67
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 67
Mutational Screening in Patient with Charcot-Marie-Tooth Disease Type 2A 65
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 63
New spastin (SPG4) mutations in patients with Hereditary Spastic Paraplegia 63
Il ruolo del TSRM nell'ambito della produzione di radiofarmaci fluorurati in GMP ad uso clinico e sperimentale 62
Exome sequencing reveals two FA2H mutations in a non-consanguineous Italian family 61
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 60
NOTCH3 gene mutations in twins with CADASIL 58
Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion 57
ALS and CHARGE syndrome: a clinical and genetic study 56
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 55
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 54
VarHunter: a platform to process and analyze data from patients with neurological diseases 53
Clinical and genetic study of an Italian family linked to SPG26 locus 52
NOTCH3 PROTEIN LOCALIZATION IN (SKIN) FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE STUDY 52
Gene symbol: NOTCH3 51
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 51
Report of an ALS case associated with a new mutation in the TARDBP gene 51
NOTCH3 gene analysis in two couples of twins 50
GENETIC AND AGRONOMIC SELECTION OF OLIVE GERMPLASM AFTER BURIAN EFFECT 50
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. 50
NEUROFIBROMATOSIS TYPE 2 (NF2) IN A CHILD UNDER 1 YEAR OF AGE: A CLINICAL AND MOLECULAR STUDY 48
A large Italian family with R521C mutation in the FUS/TLS gene 47
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 47
Identificazione di una nuova mutazione nel sito di splicing del gene Sbf2 responsabile di Charcot-Marie-Tooth autosomica recessiva (CMT4B2) 46
Identificazione Di Una Nuova Mutazione Nel Gene PMP22 In Un Paziente Affetto Da HNPP 46
PACAP and PAC1R are differentially expressed in motor cortex of amyotrophic lateral sclerosis patients and support survival of iPSC-derived motor neurons 46
Clinical and molecular investigation in an unusual Rett Syndrome case 45
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. 45
Diagnosi e aspetti genetici delle Malattie del Motoneurone 45
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene 45
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? 45
A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP) 44
Natural History of Neurofibromatosis Type 2 (NF2) in the Paediatric Age: a Prospective Clinical (and Molecular) Study 44
ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION 43
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 43
Spastin Gene Mutations In Italian Patients With Pure And Complicated Forms Of Spastic Paraplegia 42
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 42
Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis 42
Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC 42
Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni 42
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 41
Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria 41
Eterogeneità genetica della SLA 40
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 40
Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene. 40
R521C mutation in the FUS gene in a large Italian family 39
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 39
Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls 39
Integrative multi-omic analysis identify new drivers and pathways in molecularly distinct subtypes of ALS 39
Selection and Prioritization of Candidate Drug Targets for Amyotrophic Lateral Sclerosis Through a Meta-Analysis Approach 38
High-resolution genomic analysis of an amyotrophic lateral sclerosis case in a large spinocerebellar ataxia type 1 family 38
Horizontal gaze palsy with progressive scoliosis: two novel ROBO3 mutations in a compound heterozygous sporadic case 38
Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study. 38
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia 38
Polymorphisms and mutational analysis of the NOTCH3 gene in a large cohort of patients affected by leukoencephalopathy. 37
Assenza di correlazione tra sclerosi multipla familiare (SM) e mutazioni nel gene eIF2B5. 37
Genetic analysis of TARDBP gene in a color of South Italian ALS patients 37
Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. 36
The role of mri in the NOTCH3 gene screening of apparently sporadic CADASIL 36
Caratterizzazione dei portatori sani SMA con Real time PCR 36
ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation Carriers 36
Exploring olive trees genetic variability in the South East of Tunisia 36
NOTCH3 PROTEIN LOCALIZATION IN SKIN FIBROBLASTS FROM CADASIL PATIENTS : AN IMMUNOFLUORESCENCE MICROSCOPY STUDY 36
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 36
Charcot-Marie-Tooth disease tipe 2A associate with two novel MFN2 mutations 36
MOLECULAR CHARACTERIZATION OF TUSCANY OLIVE ACCESSIONS AS TOOL TO SUPPORT PGI CERTIFICATION 36
Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria 35
Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study 35
L-2-Hydroxyglutaric aciduria: a case report. 35
Tre nuove mutazioni nel gene SPG4 identificate in pazienti affetti da paraparesi spastica ereditaria 35
Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy 34
Comparison of different techniques for detecting 17p12 duplication in CMT1A. 34
EXOME SEQUENCING REVEALS TWO COMPOUND HETEROZYGOUS DDHD2 MUTATIONS IN A NON CONSANGUINEOUS SICILIAN FAMILY WITH ARHSP-TCC 34
SPASTIN GENE MUTATIONS IN ITALIAN PATIENTS WITH A PURE AND COMPLICATED FORMS OF SPASTIC PARAPLEGIA. 34
Ile587Val polymorphism of the eIF2B5 gene as susceptibility factor for multiple sclerosis. 34
Studio clinico e genetico di una famiglia italiana affetta da una nuova forma di Paraparesi Spastica autosomica dominante complicata 34
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. 34
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients 34
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. 34
The HFE H63D (p.His63Asp) polymorphism is a modifier of ALS outcome in Italian and French patients with SOD1 mutations 34
A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL 34
ATXN2 trinucleotide repeat length correlates with risk of ALS. 34
Selection of potential pharmacological targets in ALS based on whole-genome expression profiling 33
SUGGESTIVE EVIDENCE FOR LINKAGE TO CHROMOSOME 4qter FOR AUTOSOMAL DOMINANT DISTAL MOTOR NEURONOPATHY 33
Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum 33
Analisi Genetica e Clinica in 5 famiglie con espansione nucleotidica CAG del gene SCA1 33
Clinical and genetic study of an Italian family with Autosomal Recessive Spastic Paraplegia associated with dysarthria and hearing loss. 33
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia. 33
Totale 4.614
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Categoria #
all - tutte 30.027
article - articoli 14.480
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 127
Totale 44.634
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202439 0 0 0 0 0 0 0 0 7 0 22 10
2024/20253.535 24 24 301 160 841 69 63 49 52 99 982 871
2025/20265.432 341 564 492 925 932 183 855 322 403 323 92 0
Totale 9.006