CNR Institutional Research Information System

CAVALCANTI, FRANCESCA
 Distribuzione geografica
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Continente #
AS - Asia 2.004
NA - Nord America 1.209
EU - Europa 955
SA - Sud America 423
AF - Africa 41
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 3
Totale 4.640
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Nazione #
US - Stati Uniti d'America 1.170
SG - Singapore 854
IT - Italia 508
CN - Cina 429
BR - Brasile 349
HK - Hong Kong 228
VN - Vietnam 217
FR - Francia 121
NL - Olanda 75
KR - Corea 57
JP - Giappone 54
DE - Germania 53
IN - India 46
FI - Finlandia 43
GB - Regno Unito 36
IE - Irlanda 30
AR - Argentina 25
BD - Bangladesh 20
AT - Austria 19
CA - Canada 16
ID - Indonesia 16
IQ - Iraq 12
MX - Messico 12
ES - Italia 11
IL - Israele 11
ZA - Sudafrica 11
CO - Colombia 10
TR - Turchia 10
RU - Federazione Russa 9
SA - Arabia Saudita 9
VE - Venezuela 9
CL - Cile 8
EC - Ecuador 8
PY - Paraguay 8
KE - Kenya 7
PL - Polonia 7
UA - Ucraina 7
MY - Malesia 6
PK - Pakistan 6
TN - Tunisia 6
AU - Australia 5
AZ - Azerbaigian 5
BE - Belgio 5
LT - Lituania 5
MA - Marocco 5
AE - Emirati Arabi Uniti 4
CZ - Repubblica Ceca 4
DZ - Algeria 4
PT - Portogallo 4
TH - Thailandia 4
BO - Bolivia 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
KG - Kirghizistan 3
AL - Albania 2
BY - Bielorussia 2
EE - Estonia 2
EG - Egitto 2
ET - Etiopia 2
HU - Ungheria 2
NG - Nigeria 2
NP - Nepal 2
OM - Oman 2
PE - Perù 2
PH - Filippine 2
SE - Svezia 2
UZ - Uzbekistan 2
AF - Afghanistan, Repubblica islamica di 1
BG - Bulgaria 1
BH - Bahrain 1
BQ - ???statistics.table.value.countryCode.BQ??? 1
CW - ???statistics.table.value.countryCode.CW??? 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
JO - Giordania 1
KH - Cambogia 1
KZ - Kazakistan 1
MD - Moldavia 1
MT - Malta 1
MZ - Mozambico 1
NI - Nicaragua 1
NO - Norvegia 1
PA - Panama 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SO - Somalia 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 4.640
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Città #
Singapore 517
Santa Clara 423
Hong Kong 225
Hefei 124
San Jose 122
Naples 88
Ashburn 85
Lauterbourg 80
Ho Chi Minh City 68
Beijing 67
Dallas 61
Seoul 55
New York 54
Hanoi 53
Rome 45
Tokyo 45
Milan 44
São Paulo 40
Los Angeles 38
Catania 31
Dublin 30
Bari 28
Amsterdam 17
Taranto 16
Vienna 16
Council Bluffs 15
Helsinki 15
Frankfurt am Main 14
Lappeenranta 14
Buffalo 13
Turku 12
Genoa 11
Haiphong 11
Da Nang 10
Messina 10
Orem 10
Jakarta 9
Phoenix 9
Rio de Janeiro 9
Barcellona Pozzo di Gotto 8
Munich 8
Brooklyn 7
Minamishinagawa 7
Montreal 7
Mumbai 7
Turin 7
Altamura 6
Atlanta 6
Boston 6
Chennai 6
Curitiba 6
Houston 6
Hyderabad 6
Baku 5
Boardman 5
Brasília 5
Johannesburg 5
London 5
Madrid 5
New Delhi 5
Poplar 5
Porto Alegre 5
Portsmouth 5
Warsaw 5
Acri 4
Asunción 4
Bengaluru 4
Biên Hòa 4
Bogotá 4
Bonn 4
Cavallino 4
Chicago 4
Cosenza 4
Dhaka 4
Falerna 4
Fortaleza 4
Hamburg 4
Hải Dương 4
Kyiv 4
Las Vegas 4
Limeira 4
Mexico City 4
Nairobi 4
Nuremberg 4
Palermo 4
Paris 4
Quận Bình Thạnh 4
Riyadh 4
Thái Bình 4
Thái Nguyên 4
Basra 3
Bauru 3
Bishkek 3
Cambiago 3
Campinas 3
Casablanca 3
Conselheiro Lafaiete 3
Denver 3
Düsseldorf 3
El Paso 3
Totale 2.816
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Nome #
Secondary metabolites of wild plants from Pollino National Park(CS), Gentiana lutea L. and Hypericum perforatum L. and their cytoprotective and anti-obesity activity 132
In vitro study of the cytoprotective effects of chitosan polymeric nanoparticles carrying active ingredients in response to exogenous stimuli of oxidative nature 129
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions 124
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh 122
Biomarkers and outcome parameters: A global natural history study on SORD neuropathy 118
Exploring the FKRP Gene in Calabrian Patients with Duchenne/Becker-like Phenotype 105
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 102
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 95
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease 88
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes 87
A novel homozygous variant in DYSF gene is associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B 86
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 86
Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia 82
Identificato in un paziente del Sud Italia la variante Arg596Gly in omozigosi associata a Distrofia Muscolare dei Cingoli recessiva di tipo 8 82
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 81
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 79
Sex and APOE genotype modulate neuropsychological profile and depression in temporal lobe epilepsy 77
Natural history study of SORD neuropathy 76
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype 75
A NEW CYS1678TYR MUTATION RESPONSIBLE OF LGMD2B IDENTIFIED IN A FAMILY FROM SOUTHERN ITALY 74
Potential cytoprotective effects of chitosan polymeric nanoparticles carrying active ingredients in response to external oxidative stimuli 73
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT 72
Arg143Ser is the most frequent variant in Limb Girdle Muscular Dystrophy-R9 in southern Italy 71
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner. 67
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 64
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease 62
Interruptions in the FXN GAA repeat tract delay age at onset of Friedreich's Ataxia 58
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 57
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 57
Epigenetic Clocks and Their Prospective Application in the Complex Landscape of Aging and Alzheimer’s Disease 56
CLINICAL AND GENETIC-HETEROGENEITY IN EARLY ONSET CEREBELLAR-ATAXIA WITH RETAINED TENDON REFLEXES 55
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 55
Accurancy of clinical diagnostic criteria for Friedreich s ataxia 54
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare 54
Discovery novel variations in Sleep-related Hypermotor Epilepsy (SHE) using Next Generation Sequencing approach 54
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach 52
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 49
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 48
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives 46
Next-generation sequencing: identificazione di varianti geniche con effetto additivo nell'espressione del fenotipo patologico LGMD e cardiomiopatia dilatativa. 46
Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection 39
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population 38
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner 36
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 36
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia 35
Frataxin fracas 34
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. 34
A study of depression in patients with epilepsy 33
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene. 33
The relationship between trinucleotide GAA repeat lenght and sensory neuropathy in Friedreich Ataxia 33
Targeted Next-Generation Sequencing revealed rare variations in two siblings affected by late onset Parkinson's disease. 33
Depression and Parkinson's disease 32
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 31
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia 31
Depression and Parkinson's disease:a neuropsychological view 31
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: Positioning of the disease locus and evaluation of allelic heterogeneity 31
Genetics of Parkinson's disease: the role of Copy Number Variations", Chapter book for the "Parkinson's Disease 31
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 31
Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late-onset spastic ataxia 30
Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study 29
Cognitive impairment in Multiple Sclerosis 29
Splicing: is there an alternative contribution to Parkinson's disease? 29
TNF-alpha in headache patients 29
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia 29
CFS levels of myelin basic protein in multiple sclerosis 28
Friedreich's ataxia after gene cloning. The sensitivity and specificity of clinical diagnosis 28
Evidence of a genetic marker associated with early onset of Friedreich's ataxia 27
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. 26
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 26
Genetic variability in ADAM17/TACE is associated with sporadic Alzheimer's disease risk, neuropsychiatric symptoms and cognitive performance on the Rey Auditory Verbal Learning and Clock Drawing Tests 26
The effect of parental gender on the GAA dynamic mutation in the FRDA gene 26
Determinants of onset age in Friedreich's ataxia 26
Has spinocerebellar ataxia type 2 a distinct phenotype? genetic and clinical study of an italian family 25
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity. 25
Friedreich's ataxia after gene cloning genotype-phenotype relationship 25
Interruptions as disease modifiers and repeat regulators 25
Molecular genetic studies of Friedreich's ataxia 24
Identification of differentially expressed genes in recessive axonal charcot marie tooth disease using PCR-SELECT cDNA substraction 24
Expanding the Global Prevalence of Spinocerebellar Ataxia Type 42 24
Linkage study in an Italian family with autosomal recessive spastic paraplegia 23
Serum levels of soluble VCAM-1 in patients with multiple sclerosis 23
Identification of differentially expressed genes in recessive axonal Charcot-Marie tooth disease using PCR-select cDNA subtraction 23
ATAXIN-1 AND ATAXIN-2 INTERMEDIATE-LENGTH POLY-Q EXPANSIONS IN ALS PATIENTS 23
Isolation of candidate genes of Friedreich's Ataxia on chromosome 9q13 23
Friedreich's disease. A linkage study in southern and central Italy 23
LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS 23
Fabry disease: Enzymatic diagnosis 22
EVIDENCE OF A GENETIC-MARKER ASSOCIATED WITH EARLY-ONSET IN FRIEDREICHS ATAXIA 22
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient 22
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles 21
A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIA REGION ON CHROMOSOME-9Q13-Q21.1 20
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 20
Una piattaforma array CGH personalizzata per analizzare Variazioni del Numero di Copie in pazienti con Morbo di Parkinson 20
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. 19
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 19
INTRAFAMILIAL PHENOTYPE VARIATION IN FRIEDREICHS DISEASE - POSSIBLE EXCEPTIONS TO DIAGNOSTIC-CRITERIA 19
Analysis of GAA repeat interruptions in a large panel of Friedreich ataxia patient DNA samples 19
Parkin Alternative Splicing: Not Only Parkinsonism 19
EFFECTS OF 1 METHYL-4-PHENYLPYRIDINIUM ION ON MITOCHONDRIAL METABOLISM IN FROG BRAIN 18
The effect of parental gender on the GAA dynamic mutation in the FRDA gene [2] 17
Totale 4.650
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Categoria #
all - tutte 15.294
article - articoli 11.040
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 116
Totale 26.450
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202461 0 0 0 0 0 0 0 0 51 0 10 0
2024/20252.029 90 25 158 80 488 109 34 60 141 113 416 315
2025/20262.686 138 245 270 371 527 131 414 151 175 172 92 0
Totale 4.776