CNR Institutional Research Information System

CAVALCANTI, FRANCESCA
 Distribuzione geografica
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Continente #
AS - Asia 2.071
NA - Nord America 1.739
EU - Europa 1.060
SA - Sud America 463
Continente sconosciuto - Info sul continente non disponibili 148
AF - Africa 44
OC - Oceania 5
Totale 5.530
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Nazione #
US - Stati Uniti d'America 1.652
SG - Singapore 856
IT - Italia 596
CN - Cina 429
BR - Brasile 366
HK - Hong Kong 228
VN - Vietnam 224
FR - Francia 124
NL - Olanda 76
BD - Bangladesh 60
KR - Corea 57
JP - Giappone 54
DE - Germania 53
IN - India 46
FI - Finlandia 44
GB - Regno Unito 43
CA - Canada 39
IE - Irlanda 30
AR - Argentina 25
CO - Colombia 21
ID - Indonesia 20
AT - Austria 19
VE - Venezuela 14
EC - Ecuador 13
IQ - Iraq 13
MX - Messico 13
ES - Italia 12
IL - Israele 11
TR - Turchia 11
ZA - Sudafrica 11
SA - Arabia Saudita 10
CL - Cile 9
RU - Federazione Russa 9
CR - Costa Rica 8
MY - Malesia 8
PL - Polonia 8
PY - Paraguay 8
UA - Ucraina 8
KE - Kenya 7
TN - Tunisia 7
PK - Pakistan 6
AE - Emirati Arabi Uniti 5
AU - Australia 5
AZ - Azerbaigian 5
BE - Belgio 5
JM - Giamaica 5
LT - Lituania 5
MA - Marocco 5
NI - Nicaragua 5
PH - Filippine 5
TH - Thailandia 5
CZ - Repubblica Ceca 4
DZ - Algeria 4
HN - Honduras 4
NP - Nepal 4
PT - Portogallo 4
BO - Bolivia 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
KG - Kirghizistan 3
PE - Perù 3
TT - Trinidad e Tobago 3
AL - Albania 2
BY - Bielorussia 2
EE - Estonia 2
EG - Egitto 2
GT - Guatemala 2
HU - Ungheria 2
NG - Nigeria 2
OM - Oman 2
PA - Panama 2
RS - Serbia 2
SE - Svezia 2
UZ - Uzbekistan 2
AF - Afghanistan, Repubblica islamica di 1
AG - Antigua e Barbuda 1
BG - Bulgaria 1
BH - Bahrain 1
BQ - ???statistics.table.value.countryCode.BQ??? 1
BZ - Belize 1
CW - ???statistics.table.value.countryCode.CW??? 1
GR - Grecia 1
HR - Croazia 1
JO - Giordania 1
KH - Cambogia 1
KY - Cayman, isole 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
MD - Moldavia 1
MT - Malta 1
MZ - Mozambico 1
NO - Norvegia 1
PS - Palestinian Territory 1
SC - Seychelles 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SO - Somalia 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 5.385
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Città #
Singapore 519
Santa Clara 427
Hong Kong 225
San Jose 145
Hefei 124
Ashburn 120
Naples 93
Lauterbourg 80
Ho Chi Minh City 70
Beijing 67
Dallas 65
New York 63
Hanoi 55
Seoul 55
Milan 52
Rome 52
Los Angeles 46
Tokyo 45
São Paulo 42
Catania 34
Dublin 31
Bari 29
Buffalo 21
Amsterdam 17
Council Bluffs 17
Houston 17
Taranto 17
Vienna 16
Helsinki 15
Frankfurt am Main 14
Genoa 14
Lappeenranta 14
Atlanta 13
Chicago 13
Phoenix 12
Turku 12
Da Nang 11
Haiphong 11
Messina 11
Turin 11
Brooklyn 10
Orem 10
Bogotá 9
Jakarta 9
Rio de Janeiro 9
Barcellona Pozzo di Gotto 8
Boston 8
Brasília 8
Montreal 8
Munich 8
Minamishinagawa 7
Mumbai 7
Altamura 6
Birmingham 6
Boardman 6
Chennai 6
Cincinnati 6
Curitiba 6
Dhaka 6
Hyderabad 6
Kingston 6
San José 6
Baku 5
Florence 5
Johannesburg 5
Las Vegas 5
London 5
Madrid 5
Managua 5
Mexico City 5
New Delhi 5
Newark 5
Palermo 5
Paris 5
Philadelphia 5
Poplar 5
Porto Alegre 5
Portsmouth 5
Quito 5
Toronto 5
Warsaw 5
Acri 4
Asunción 4
Bengaluru 4
Biên Hòa 4
Bonn 4
Cavallino 4
Charlotte 4
Columbia 4
Cosenza 4
Denver 4
El Paso 4
Falerna 4
Figino 4
Fortaleza 4
Guayaquil 4
Hamburg 4
Hải Dương 4
Kansas City 4
Kuala Lumpur 4
Totale 3.027
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Nome #
Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia 149
Secondary metabolites of wild plants from Pollino National Park(CS), Gentiana lutea L. and Hypericum perforatum L. and their cytoprotective and anti-obesity activity 143
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 142
Biomarkers and outcome parameters: A global natural history study on SORD neuropathy 139
In vitro study of the cytoprotective effects of chitosan polymeric nanoparticles carrying active ingredients in response to exogenous stimuli of oxidative nature 139
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh 130
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions 128
Exploring the FKRP Gene in Calabrian Patients with Duchenne/Becker-like Phenotype 115
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 106
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 102
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes 101
A novel homozygous variant in DYSF gene is associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B 97
Identificato in un paziente del Sud Italia la variante Arg596Gly in omozigosi associata a Distrofia Muscolare dei Cingoli recessiva di tipo 8 94
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease 90
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 90
Natural history study of SORD neuropathy 86
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 86
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease 84
Potential cytoprotective effects of chitosan polymeric nanoparticles carrying active ingredients in response to external oxidative stimuli 84
Arg143Ser is the most frequent variant in Limb Girdle Muscular Dystrophy-R9 in southern Italy 84
Sex and APOE genotype modulate neuropsychological profile and depression in temporal lobe epilepsy 83
A NEW CYS1678TYR MUTATION RESPONSIBLE OF LGMD2B IDENTIFIED IN A FAMILY FROM SOUTHERN ITALY 82
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype 81
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner. 81
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT 79
Interruptions in the FXN GAA repeat tract delay age at onset of Friedreich's Ataxia 72
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 71
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 68
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 67
Epigenetic Clocks and Their Prospective Application in the Complex Landscape of Aging and Alzheimer’s Disease 66
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach 62
CLINICAL AND GENETIC-HETEROGENEITY IN EARLY ONSET CEREBELLAR-ATAXIA WITH RETAINED TENDON REFLEXES 61
Discovery novel variations in Sleep-related Hypermotor Epilepsy (SHE) using Next Generation Sequencing approach 59
Accurancy of clinical diagnostic criteria for Friedreich s ataxia 58
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 58
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 58
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare 57
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 56
Next-generation sequencing: identificazione di varianti geniche con effetto additivo nell'espressione del fenotipo patologico LGMD e cardiomiopatia dilatativa. 55
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives 51
The relationship between trinucleotide GAA repeat lenght and sensory neuropathy in Friedreich Ataxia 46
Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection 44
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner 42
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population 42
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. 42
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 40
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene. 39
Targeted Next-Generation Sequencing revealed rare variations in two siblings affected by late onset Parkinson's disease. 39
Frataxin fracas 38
A study of depression in patients with epilepsy 37
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia 37
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 37
Depression and Parkinson's disease 37
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 36
Splicing: is there an alternative contribution to Parkinson's disease? 35
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 35
Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late-onset spastic ataxia 35
Depression and Parkinson's disease:a neuropsychological view 34
Genetics of Parkinson's disease: the role of Copy Number Variations", Chapter book for the "Parkinson's Disease 34
Cognitive impairment in Multiple Sclerosis 33
Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study 32
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. 32
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: Positioning of the disease locus and evaluation of allelic heterogeneity 32
TNF-alpha in headache patients 32
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia 32
Evidence of a genetic marker associated with early onset of Friedreich's ataxia 31
Friedreich's ataxia after gene cloning. The sensitivity and specificity of clinical diagnosis 31
CFS levels of myelin basic protein in multiple sclerosis 30
Determinants of onset age in Friedreich's ataxia 30
Has spinocerebellar ataxia type 2 a distinct phenotype? genetic and clinical study of an italian family 29
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 29
The effect of parental gender on the GAA dynamic mutation in the FRDA gene 29
Interruptions as disease modifiers and repeat regulators 29
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 28
Friedreich's ataxia after gene cloning genotype-phenotype relationship 28
Isolation of candidate genes of Friedreich's Ataxia on chromosome 9q13 28
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient 28
Molecular genetic studies of Friedreich's ataxia 27
EVIDENCE OF A GENETIC-MARKER ASSOCIATED WITH EARLY-ONSET IN FRIEDREICHS ATAXIA 27
Identification of differentially expressed genes in recessive axonal Charcot-Marie tooth disease using PCR-select cDNA subtraction 27
INTRAFAMILIAL PHENOTYPE VARIATION IN FRIEDREICHS DISEASE - POSSIBLE EXCEPTIONS TO DIAGNOSTIC-CRITERIA 27
Identification of differentially expressed genes in recessive axonal charcot marie tooth disease using PCR-SELECT cDNA substraction 27
Friedreich's disease. A linkage study in southern and central Italy 27
Fabry disease: Enzymatic diagnosis 26
Serum levels of soluble VCAM-1 in patients with multiple sclerosis 26
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity. 26
Expanding the Global Prevalence of Spinocerebellar Ataxia Type 42 26
EFFECTS OF 1 METHYL-4-PHENYLPYRIDINIUM ION ON MITOCHONDRIAL METABOLISM IN FROG BRAIN 25
ATAXIN-1 AND ATAXIN-2 INTERMEDIATE-LENGTH POLY-Q EXPANSIONS IN ALS PATIENTS 25
Linkage study in an Italian family with autosomal recessive spastic paraplegia 24
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles 24
Analysis of GAA repeat interruptions in a large panel of Friedreich ataxia patient DNA samples 24
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 24
Una piattaforma array CGH personalizzata per analizzare Variazioni del Numero di Copie in pazienti con Morbo di Parkinson 24
LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS 24
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. 23
A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIA REGION ON CHROMOSOME-9Q13-Q21.1 23
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 21
Parkin Alternative Splicing: Not Only Parkinsonism 21
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 18
Totale 5.352
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Categoria #
all - tutte 18.599
article - articoli 13.279
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 136
Totale 32.014
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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
2025/20262.818 138 245 270 371 527 131 414 151 175 172 105 119
2026/2027622 187 182 253 0 0 0 0 0 0 0 0 0
Totale 5.530