CNR Institutional Research Information System

MANTUANO, ELIDE
 Distribuzione geografica
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Continente #
AS - Asia 1.634
NA - Nord America 1.024
EU - Europa 347
SA - Sud America 290
AF - Africa 24
OC - Oceania 5
Totale 3.324
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Nazione #
US - Stati Uniti d'America 978
SG - Singapore 740
CN - Cina 345
BR - Brasile 245
VN - Vietnam 162
HK - Hong Kong 160
FR - Francia 106
IT - Italia 61
KR - Corea 60
NL - Olanda 54
IN - India 37
GB - Regno Unito 32
BD - Bangladesh 29
DE - Germania 24
CA - Canada 23
FI - Finlandia 20
JP - Giappone 20
ID - Indonesia 15
AR - Argentina 12
MX - Messico 12
CO - Colombia 11
IL - Israele 10
EC - Ecuador 9
PK - Pakistan 9
AT - Austria 8
TR - Turchia 8
VE - Venezuela 8
IQ - Iraq 7
UA - Ucraina 7
ZA - Sudafrica 7
SA - Arabia Saudita 6
SE - Svezia 6
AU - Australia 5
EG - Egitto 5
BE - Belgio 4
CZ - Repubblica Ceca 4
IE - Irlanda 4
AZ - Azerbaigian 3
CR - Costa Rica 3
DZ - Algeria 3
MY - Malesia 3
PH - Filippine 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
CL - Cile 2
DO - Repubblica Dominicana 2
ES - Italia 2
HU - Ungheria 2
JM - Giamaica 2
JO - Giordania 2
KE - Kenya 2
LK - Sri Lanka 2
MR - Mauritania 2
OM - Oman 2
PL - Polonia 2
PT - Portogallo 2
PY - Paraguay 2
RO - Romania 2
RU - Federazione Russa 2
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BM - Bermuda 1
CI - Costa d'Avorio 1
EE - Estonia 1
ET - Etiopia 1
HR - Croazia 1
KZ - Kazakistan 1
LB - Libano 1
MA - Marocco 1
MN - Mongolia 1
NG - Nigeria 1
NP - Nepal 1
PE - Perù 1
SV - El Salvador 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 3.324
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Città #
Santa Clara 449
Singapore 422
Hong Kong 156
San Jose 149
Hefei 138
Beijing 87
Lauterbourg 76
Ashburn 58
Seoul 58
Ho Chi Minh City 55
Hanoi 35
Los Angeles 33
Rome 26
Dallas 23
São Paulo 20
New York 16
Buffalo 12
Helsinki 11
Brasília 10
Frankfurt am Main 10
Rio de Janeiro 9
Tokyo 9
Minamishinagawa 8
Haiphong 7
Lappeenranta 7
Bengaluru 6
Da Nang 6
Istanbul 6
Manchester 6
Milan 6
Paris 6
Phoenix 6
Thái Nguyên 6
Toronto 6
Chennai 5
Council Bluffs 5
Curitiba 5
Guarulhos 5
London 5
Montreal 5
Orem 5
Portsmouth 5
Stockholm 5
Brooklyn 4
Cairo 4
Campinas 4
Can Tho 4
Düsseldorf 4
Hyderabad 4
Hải Dương 4
Mexico City 4
Miami 4
Mumbai 4
Porto Alegre 4
Shanghai 4
Amsterdam 3
Baku 3
Blumenau 3
Boston 3
Boydton 3
Bình Dương Province 3
Carapicuíba 3
Cartagena 3
Charlotte 3
Dammam 3
Dublin 3
Elk Grove Village 3
Ghent 3
Huế 3
Jakarta 3
Kingston 3
Kyiv 3
Palermo 3
Piscataway 3
Prague 3
Rawalpindi 3
Tashkent 3
Vienna 3
Alagoinhas 2
Amman 2
Anápolis 2
Atlanta 2
Balneário Camboriú 2
Bandar Lampung 2
Bari 2
Barueri 2
Belo Horizonte 2
Betim 2
Biên Hòa 2
Bogotá 2
Bắc Giang 2
Campo Grande 2
Canoas 2
Caracas 2
Cascavel 2
Casimiro de Abreu 2
Chicago 2
Columbus 2
Congonhas 2
Denver 2
Totale 2.144
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Nome #
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study. 105
Characterization of human frataxin missense variants in cancer tissues 96
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation 86
Homo sapiens pro-nerve growth factor long variant (NGF) mRNA, complete cds, alternatively spliced 78
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 69
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 64
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study 61
Clinical and molecular characterization of large cohort of patients with novel and recurrent CACNA1A gene mutations 60
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene 59
Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study 58
De novo TITF1 gene mutation causing Benign Hereditary Chorea with Hypothyroidism and Pituitary Mass 57
Episodic ataxias: Faux or real? 55
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases. 55
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations 54
Leukocyte telomere shortening in Huntington's disease. 53
DNA restriction fragment analysis of the somatostatin gene in Familial Isolated Growth Hormone Deficiency type I. 52
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation 52
Construction and preliminary characterization of human recombinant proNGF-A variant 52
Different responses of PC12 cells to different pro-nerve growth factor protein variants 51
Rattus norvegicus strain Wistar pro-nerve growth factor long variant (Ngf) mRNA, complete cds, alternatively spliced 51
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea 51
Relationship between proinflammatory cytokines (Il-1beta, Il-18) and leukocyte telomere length in mild cognitive impairment and Alzheimer's disease 48
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit. 47
Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias 45
Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. 44
Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression 44
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family 42
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia 42
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum 40
Use of the highly polymorphic marker M27-beta for carrier detection in the Wiskott-Aldrich syndrome 39
A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2. 38
Characterization of the promoter and new isoformes of CACNA1A gene 38
Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine 38
Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients 38
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. 37
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes. 37
A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family 37
A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature 37
Restriction fragment length polymorphisms in Italy. 36
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 36
Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. 33
Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 33
Mapping the X-liked Lymphoproliferative ( XLP ) gene 33
regioni regolatrici al 5' del gene CACNA1A e mutazioni FHM1 33
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes . 31
il meccanismo del non sense mediated mRNA decay controlla la degradazione dell'mRNA di CACNA1A murino contenente la mutazione leaner 31
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. 31
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2 31
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 30
DNA polimorphisms of apolipoprotein B and angiotensin I-converting enzyme genes and relationships with lipid level in Italian patients with vascular dementia or Alzheimer's disease. 30
Evidence for linkage equilibrium between two RFLPs associated with the human SST locus 30
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 30
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions 29
Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1) 29
Clinical and molecular characterization of a large cohort of patients with novel and recurrent CACNA1A gene mutations. 29
Use of the highly polymophic marker M27beta for carrier detection in the Wiskott-Aldrich syndrome 29
Growth failure in man: a molecular approach. 28
Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1. 28
Apolipoprotein B and E, and AngiotensinI-converting enzyme (ACE) genetic polymorphisms in Italian women with coronary artery disease (CAD) and their relationships with plasma lipid and apolipoprotein levels. 28
analisi di mutazione e caratterizzazione di regioni regolative del gene CACNA1A codificante per la subunità alpha1 (Cav2.1) del canale del calcio voltaggio dipendente di tipo P/Q 28
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome 27
CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY 27
Approccio genetico e molecolare alla diagnosi delle immunodeficienze X-recessive. 27
Molecular analysis of the gene CACNA1A: refined mapping of the containig region and screening for mutations in EA2. 27
Genetic variations of Insulin-Like Growth Factor I in Italy 26
Restriction fragment length polymorphism of the D5S4 locus in Italy. 26
A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs 26
Clusters di mutazioni di CACNA1A non troncanti la proteina che causano Atassia Episodica di tipo 2. 26
INVESTIGATION OF ISOLATED GROWTH-HORMONE DEFICIENCY TYPE-1A (IGHD-1A) IN THE ITALIAN POPULATION WITH A CDNA PROBE TO HGH GENE 26
Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador. 25
ADCY5 screening in pediatric-onset hyperkinetic movement disorders: report of three new Italian families 25
Cluster di mutazioni di CACNA1A non troncanti la proteina che causano l'atassia episodica di tipo 2 (EA2) 25
nuova mutazione SCA14, atassia episodica di tipo 2 senza episodi e atassia di friedereich pseudodominante in pazienti atassici con un genitore affetto, 25
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. 24
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 24
Restriction fragment length polymorphism of the D1S1 locus in Italy 24
APPLICATION OF MOLECULAR ANALYSIS TO GENETIC-COUNSELING IN THE WISKOTT-ALDRICH SYNDROME (WAS) 24
NOVEL DE NOVO MUTATION CAUSING BENIGN HEREDITARY CHOREA WITH HYPOTHYROIDISM AND A PITUITARY MASS 23
Multiple restriction site polymorphism at the human somatostatin locus: a population study in Italy. 23
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice. 23
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. 22
Effect of some thiol reagents on erythrocyte Adenosine Deaminase (ADA) activity 22
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. 21
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia. 21
Detection of heterozygotes in three italian families with ADA-d and SCID 21
Mutation of the WASP gene in X-linked Thrombocytopenia 20
Immunodeficienza Combinata grave da mutazione del recettore per l'interleuchina 2. 18
Insulin-like Growth Factor (IGF) I gene in relation to short stature: a molecular approach 17
Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit. 16
Totale 3.367
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Categoria #
all - tutte 10.945
article - articoli 6.749
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 295
Totale 17.989
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202414 0 0 0 0 0 0 0 0 2 0 7 5
2024/20251.476 1 6 105 44 455 47 7 94 51 72 337 257
2025/20261.877 101 172 203 259 356 56 311 83 102 147 84 3
Totale 3.367