CNR Institutional Research Information System

CAVALCANTI, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 509
EU - Europa 385
AS - Asia 224
SA - Sud America 3
Totale 1.121
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Nazione #
US - Stati Uniti d'America 509
IT - Italia 300
SG - Singapore 200
IE - Irlanda 26
NL - Olanda 16
FI - Finlandia 13
AT - Austria 12
CN - Cina 8
DE - Germania 6
HK - Hong Kong 4
KR - Corea 4
IN - India 3
BE - Belgio 2
BO - Bolivia 2
CZ - Repubblica Ceca 2
FR - Francia 2
HU - Ungheria 2
KG - Kirghizistan 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
CL - Cile 1
GB - Regno Unito 1
IL - Israele 1
NO - Norvegia 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
Totale 1.121
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Città #
Santa Clara 415
Singapore 136
Naples 81
Milan 31
Dublin 26
Rome 19
Bari 15
Amsterdam 13
Helsinki 13
Taranto 12
Vienna 12
Genoa 11
Barcellona Pozzo di Gotto 8
Los Angeles 7
Messina 5
Catania 4
Cavallino 4
Cosenza 4
Falerna 4
Hong Kong 4
Seoul 4
Altamura 3
Pagani 3
Pisa 3
Binche 2
Bishkek 2
Caltanissetta 2
Decollatura 2
Falkenstein 2
Forlì 2
La Paz 2
Phoenix 2
Ashburn 1
Avellino 1
Bratislava 1
Cagliari 1
Chignolo d'Isola 1
Dallas 1
Fort Worth 1
Friesland 1
Gizzeria 1
Livorno 1
Newark 1
Oslo 1
Oswego 1
Palermo 1
Pescara 1
Prague 1
Pune 1
Tel Aviv 1
Tirana 1
Varapodio 1
Totale 873
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Nome #
In vitro study of the cytoprotective effects of chitosan polymeric nanoparticles carrying active ingredients in response to exogenous stimuli of oxidative nature 62
Secondary metabolites of wild plants from Pollino National Park(CS), Gentiana lutea L. and Hypericum perforatum L. and their cytoprotective and anti-obesity activity 56
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions 37
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 36
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 34
A novel homozygous variant in DYSF gene is associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B 33
Exploring the FKRP Gene in Calabrian Patients with Duchenne/Becker-like Phenotype 31
Arg143Ser is the most frequent variant in Limb Girdle Muscular Dystrophy-R9 in southern Italy 26
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 26
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner. 25
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh 24
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 24
A NEW CYS1678TYR MUTATION RESPONSIBLE OF LGMD2B IDENTIFIED IN A FAMILY FROM SOUTHERN ITALY 23
Potential cytoprotective effects of chitosan polymeric nanoparticles carrying active ingredients in response to external oxidative stimuli 22
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 20
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population 19
Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection 18
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes 17
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease 16
Identificato in un paziente del Sud Italia la variante Arg596Gly in omozigosi associata a Distrofia Muscolare dei Cingoli recessiva di tipo 8 16
Biomarkers and outcome parameters: A global natural history study on SORD neuropathy 15
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 15
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives 14
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare 13
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 13
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia 13
CFS levels of myelin basic protein in multiple sclerosis 13
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 13
TNF-alpha in headache patients 13
Next-generation sequencing: identificazione di varianti geniche con effetto additivo nell'espressione del fenotipo patologico LGMD e cardiomiopatia dilatativa. 13
Determinants of onset age in Friedreich's ataxia 13
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 12
Rare variants detected by Next Generation Sequencing in two siblings affected by late onset Parkinson's disease 12
Interruptions in the FXN GAA repeat tract delay age at onset of Friedreich's Ataxia 12
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT 12
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype 12
Genetics of Parkinson's disease: the role of Copy Number Variations", Chapter book for the "Parkinson's Disease 12
CLINICAL AND GENETIC-HETEROGENEITY IN EARLY ONSET CEREBELLAR-ATAXIA WITH RETAINED TENDON REFLEXES 11
A study of depression in patients with epilepsy 11
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 11
Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia 11
Depression and Parkinson's disease 11
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner 10
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 10
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. 10
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach 10
Targeted Next Generation Sequencing is a valuable diagnostic tool for Inherited Peripheral Neuropathies 10
Serum levels of soluble VCAM-1 in patients with multiple sclerosis 9
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 9
Targeted Next-Generation Sequencing revealed rare variations in two siblings affected by late onset Parkinson's disease. 9
Frataxin fracas 9
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 9
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. 9
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient 9
Discovery novel variations in Sleep-related Hypermotor Epilepsy (SHE) using Next Generation Sequencing approach 9
Cognitive impairment in Multiple Sclerosis 8
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: Positioning of the disease locus and evaluation of allelic heterogeneity 8
Natural history study of SORD neuropathy 8
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An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. 7
Evidence of a genetic marker associated with early onset of Friedreich's ataxia 7
The relationship between trinucleotide GAA repeat lenght and sensory neuropathy in Friedreich Ataxia 7
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity. 7
Identification of differentially expressed genes in recessive axonal charcot marie tooth disease using PCR-SELECT cDNA substraction 7
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Accurancy of clinical diagnostic criteria for Friedreich s ataxia 6
Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study 6
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene. 6
Depression and Parkinson's disease:a neuropsychological view 6
Sex and APOE genotype modulate neuropsychological profile and depression in temporal lobe epilepsy 6
Fabry disease: Enzymatic diagnosis 6
Splicing: is there an alternative contribution to Parkinson's disease? 6
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 6
The effect of parental gender on the GAA dynamic mutation in the FRDA gene 6
ATAXIN-1 AND ATAXIN-2 INTERMEDIATE-LENGTH POLY-Q EXPANSIONS IN ALS PATIENTS 6
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LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS 6
Linkage study in an Italian family with autosomal recessive spastic paraplegia 5
Molecular genetic studies of Friedreich's ataxia 5
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia 5
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INTRAFAMILIAL PHENOTYPE VARIATION IN FRIEDREICHS DISEASE - POSSIBLE EXCEPTIONS TO DIAGNOSTIC-CRITERIA 5
Analysis of GAA repeat interruptions in a large panel of Friedreich ataxia patient DNA samples 5
Parkin Alternative Splicing: Not Only Parkinsonism 5
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13 5
Friedreich's disease. A linkage study in southern and central Italy 5
Una piattaforma array CGH personalizzata per analizzare Variazioni del Numero di Copie in pazienti con Morbo di Parkinson 5
Expanding the Global Prevalence of Spinocerebellar Ataxia Type 42 5
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A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIA REGION ON CHROMOSOME-9Q13-Q21.1 4
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Has spinocerebellar ataxia type 2 a distinct phenotype? genetic and clinical study of an italian family 4
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EVIDENCE OF A GENETIC-MARKER ASSOCIATED WITH EARLY-ONSET IN FRIEDREICHS ATAXIA 4
Friedreich's ataxia after gene cloning genotype-phenotype relationship 4
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles 4
Friedreich's ataxia after gene cloning. The sensitivity and specificity of clinical diagnosis 4
The effect of parental gender on the GAA dynamic mutation in the FRDA gene [2] 4
Totale 1.211
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Categoria #
all - tutte 4.541
article - articoli 3.267
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 44
Totale 7.852
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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
2024/20251.185 90 25 158 80 488 109 34 60 141 0 0 0
Totale 1.246