CNR Institutional Research Information System

MANTUANO, ELIDE
 Distribuzione geografica
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Continente #
AS - Asia 1.656
NA - Nord America 1.146
EU - Europa 372
SA - Sud America 299
Continente sconosciuto - Info sul continente non disponibili 43
AF - Africa 25
OC - Oceania 5
Totale 3.546
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Nazione #
US - Stati Uniti d'America 1.070
SG - Singapore 743
CN - Cina 346
BR - Brasile 247
VN - Vietnam 164
HK - Hong Kong 161
FR - Francia 106
IT - Italia 83
KR - Corea 60
NL - Olanda 55
BD - Bangladesh 40
CA - Canada 37
IN - India 37
GB - Regno Unito 32
DE - Germania 24
FI - Finlandia 20
JP - Giappone 20
ID - Indonesia 15
CO - Colombia 13
AR - Argentina 12
EC - Ecuador 12
MX - Messico 12
IL - Israele 10
PK - Pakistan 9
TR - Turchia 9
VE - Venezuela 9
AT - Austria 8
UA - Ucraina 8
CR - Costa Rica 7
IQ - Iraq 7
ZA - Sudafrica 7
SA - Arabia Saudita 6
SE - Svezia 6
AU - Australia 5
EG - Egitto 5
MY - Malesia 5
BE - Belgio 4
CZ - Repubblica Ceca 4
IE - Irlanda 4
JM - Giamaica 4
NI - Nicaragua 4
AZ - Azerbaigian 3
CL - Cile 3
DZ - Algeria 3
ES - Italia 3
PH - Filippine 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
DO - Repubblica Dominicana 2
HU - Ungheria 2
JO - Giordania 2
KE - Kenya 2
LK - Sri Lanka 2
MA - Marocco 2
MR - Mauritania 2
NP - Nepal 2
OM - Oman 2
PL - Polonia 2
PT - Portogallo 2
PY - Paraguay 2
RO - Romania 2
RU - Federazione Russa 2
SV - El Salvador 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
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
HT - Haiti 1
KZ - Kazakistan 1
LB - Libano 1
MN - Mongolia 1
MQ - Martinica 1
NG - Nigeria 1
PE - Perù 1
PR - Porto Rico 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 3.503
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Città #
Santa Clara 450
Singapore 424
Hong Kong 156
San Jose 149
Hefei 138
Beijing 87
Ashburn 76
Lauterbourg 76
Seoul 58
Ho Chi Minh City 56
Hanoi 35
Los Angeles 33
Rome 29
Dallas 25
São Paulo 20
New York 16
Buffalo 13
Brasília 11
Helsinki 11
Frankfurt am Main 10
Rio de Janeiro 9
Tokyo 9
Minamishinagawa 8
Haiphong 7
Istanbul 7
Lappeenranta 7
Miami 7
Milan 7
Montreal 7
Bengaluru 6
Da Nang 6
Manchester 6
Paris 6
Phoenix 6
Thái Nguyên 6
Toronto 6
Chennai 5
Council Bluffs 5
Curitiba 5
Guarulhos 5
London 5
Orem 5
Portsmouth 5
San José 5
Shanghai 5
Stockholm 5
Brooklyn 4
Cairo 4
Campinas 4
Can Tho 4
Columbus 4
Düsseldorf 4
Hyderabad 4
Hải Dương 4
Kingston 4
Kyiv 4
Managua 4
Mexico City 4
Mumbai 4
Palermo 4
Piscataway 4
Porto Alegre 4
Quito 4
Amsterdam 3
Atlanta 3
Baku 3
Bari 3
Blumenau 3
Boardman 3
Bogotá 3
Boston 3
Boydton 3
Bình Dương Province 3
Calgary 3
Carapicuíba 3
Cartagena 3
Charlotte 3
Chicago 3
Dammam 3
Dublin 3
Elk Grove Village 3
Fort Worth 3
Ghent 3
Huế 3
Jakarta 3
Murfreesboro 3
Prague 3
Rawalpindi 3
Tashkent 3
Vienna 3
Washington 3
Alagoinhas 2
Amman 2
Anápolis 2
Balch Springs 2
Balneário Camboriú 2
Bandar Lampung 2
Barueri 2
Belo Horizonte 2
Bentonville 2
Totale 2.203
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Nome #
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study. 108
Characterization of human frataxin missense variants in cancer tissues 99
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation 88
Homo sapiens pro-nerve growth factor long variant (NGF) mRNA, complete cds, alternatively spliced 79
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 77
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 66
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study 63
Clinical and molecular characterization of large cohort of patients with novel and recurrent CACNA1A gene mutations 61
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene 60
Episodic ataxias: Faux or real? 60
Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study 59
De novo TITF1 gene mutation causing Benign Hereditary Chorea with Hypothyroidism and Pituitary Mass 58
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations 58
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases. 58
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation 57
DNA restriction fragment analysis of the somatostatin gene in Familial Isolated Growth Hormone Deficiency type I. 55
Different responses of PC12 cells to different pro-nerve growth factor protein variants 55
Relationship between proinflammatory cytokines (Il-1beta, Il-18) and leukocyte telomere length in mild cognitive impairment and Alzheimer's disease 55
Leukocyte telomere shortening in Huntington's disease. 54
Construction and preliminary characterization of human recombinant proNGF-A variant 53
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit. 52
Rattus norvegicus strain Wistar pro-nerve growth factor long variant (Ngf) mRNA, complete cds, alternatively spliced 52
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea 52
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family 48
Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. 46
Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression 46
Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias 45
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia 45
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum 43
Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients 42
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes. 41
Characterization of the promoter and new isoformes of CACNA1A gene 40
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 40
Use of the highly polymorphic marker M27-beta for carrier detection in the Wiskott-Aldrich syndrome 40
A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2. 39
Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine 39
A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family 38
Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. 38
Restriction fragment length polymorphisms in Italy. 37
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 37
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. 37
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. 35
Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 35
Mapping the X-liked Lymphoproliferative ( XLP ) gene 34
regioni regolatrici al 5' del gene CACNA1A e mutazioni FHM1 34
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2 33
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes . 32
Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: A population genetics model for CAG repeat expansions 32
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. 32
Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1. 31
il meccanismo del non sense mediated mRNA decay controlla la degradazione dell'mRNA di CACNA1A murino contenente la mutazione leaner 31
Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1) 31
Evidence for linkage equilibrium between two RFLPs associated with the human SST locus 31
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 31
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 30
Clinical and molecular characterization of a large cohort of patients with novel and recurrent CACNA1A gene mutations. 30
Use of the highly polymophic marker M27beta for carrier detection in the Wiskott-Aldrich syndrome 30
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 30
Growth failure in man: a molecular approach. 29
Restriction fragment length polymorphism of the D5S4 locus in Italy. 29
Cluster di mutazioni di CACNA1A non troncanti la proteina che causano l'atassia episodica di tipo 2 (EA2) 29
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
A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs 28
CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY 28
Approccio genetico e molecolare alla diagnosi delle immunodeficienze X-recessive. 28
Molecular analysis of the gene CACNA1A: refined mapping of the containig region and screening for mutations in EA2. 28
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome 27
ADCY5 screening in pediatric-onset hyperkinetic movement disorders: report of three new Italian families 27
Genetic variations of Insulin-Like Growth Factor I in Italy 27
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 27
INVESTIGATION OF ISOLATED GROWTH-HORMONE DEFICIENCY TYPE-1A (IGHD-1A) IN THE ITALIAN POPULATION WITH A CDNA PROBE TO HGH GENE 27
Apolipoprotein B and E genetic polymorphisms in the Cayapa Indians of Ecuador. 26
Clusters di mutazioni di CACNA1A non troncanti la proteina che causano Atassia Episodica di tipo 2. 26
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. 26
Restriction fragment length polymorphism of the D1S1 locus in Italy 26
nuova mutazione SCA14, atassia episodica di tipo 2 senza episodi e atassia di friedereich pseudodominante in pazienti atassici con un genitore affetto, 26
NOVEL DE NOVO MUTATION CAUSING BENIGN HEREDITARY CHOREA WITH HYPOTHYROIDISM AND A PITUITARY MASS 25
Multiple restriction site polymorphism at the human somatostatin locus: a population study in Italy. 25
APPLICATION OF MOLECULAR ANALYSIS TO GENETIC-COUNSELING IN THE WISKOTT-ALDRICH SYNDROME (WAS) 25
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice. 25
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. 24
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. 24
Mutation of the WASP gene in X-linked Thrombocytopenia 22
Effect of some thiol reagents on erythrocyte Adenosine Deaminase (ADA) activity 22
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia. 22
Insulin-like Growth Factor (IGF) I gene in relation to short stature: a molecular approach 21
Detection of heterozygotes in three italian families with ADA-d and SCID 21
Immunodeficienza Combinata grave da mutazione del recettore per l'interleuchina 2. 20
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 3.546
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Categoria #
all - tutte 12.505
article - articoli 7.684
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 340
Totale 20.529
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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
2025/20261.905 101 172 203 259 356 56 311 83 102 147 84 31
2026/2027151 110 41 0 0 0 0 0 0 0 0 0 0
Totale 3.546