CNR Institutional Research Information System

VENEZIANO, LIANA
 Distribuzione geografica
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Continente #
AS - Asia 1.496
NA - Nord America 1.219
EU - Europa 406
SA - Sud America 260
Continente sconosciuto - Info sul continente non disponibili 42
AF - Africa 23
OC - Oceania 4
Totale 3.450
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Nazione #
US - Stati Uniti d'America 1.134
SG - Singapore 615
CN - Cina 321
BR - Brasile 220
VN - Vietnam 166
HK - Hong Kong 151
IT - Italia 132
FR - Francia 89
BD - Bangladesh 57
NL - Olanda 57
KR - Corea 53
CA - Canada 38
GB - Regno Unito 32
IN - India 31
DE - Germania 25
JP - Giappone 25
FI - Finlandia 19
MX - Messico 17
AR - Argentina 14
TR - Turchia 11
AT - Austria 10
CO - Colombia 10
EC - Ecuador 8
ID - Indonesia 8
IL - Israele 8
PK - Pakistan 8
SA - Arabia Saudita 7
ZA - Sudafrica 7
IQ - Iraq 6
MY - Malesia 6
DO - Repubblica Dominicana 5
IE - Irlanda 5
JM - Giamaica 5
SE - Svezia 5
AU - Australia 4
BE - Belgio 4
CR - Costa Rica 4
ES - Italia 4
NI - Nicaragua 4
UA - Ucraina 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
AZ - Azerbaigian 3
CZ - Repubblica Ceca 3
EG - Egitto 3
JO - Giordania 3
RU - Federazione Russa 3
BA - Bosnia-Erzegovina 2
CL - Cile 2
DZ - Algeria 2
HT - Haiti 2
KE - Kenya 2
KZ - Kazakistan 2
LB - Libano 2
MA - Marocco 2
MR - Mauritania 2
NP - Nepal 2
OM - Oman 2
PL - Polonia 2
PR - Porto Rico 2
PT - Portogallo 2
PY - Paraguay 2
RO - Romania 2
SV - El Salvador 2
AG - Antigua e Barbuda 1
AL - Albania 1
AM - Armenia 1
BB - Barbados 1
BG - Bulgaria 1
BM - Bermuda 1
BS - Bahamas 1
CI - Costa d'Avorio 1
EE - Estonia 1
ET - Etiopia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
LT - Lituania 1
ML - Mali 1
MN - Mongolia 1
NG - Nigeria 1
PH - Filippine 1
SY - Repubblica araba siriana 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 3.408
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Città #
Singapore 356
Santa Clara 353
San Jose 163
Hefei 143
Hong Kong 142
Ashburn 74
Beijing 70
Ho Chi Minh City 61
Lauterbourg 61
Seoul 53
Hanoi 38
Rome 37
Los Angeles 31
Dallas 26
São Paulo 24
New York 21
Milan 11
Buffalo 10
Helsinki 10
Frankfurt am Main 9
Brasília 8
Brooklyn 8
Council Bluffs 8
Da Nang 8
Istanbul 8
Minamishinagawa 8
Montreal 8
Bengaluru 7
Phoenix 7
Portsmouth 7
Lappeenranta 6
Manchester 6
Miami 6
Naples 6
Rio de Janeiro 6
Tokyo 6
Toronto 6
Boston 5
Bình Dương Province 5
Chennai 5
Haiphong 5
Philadelphia 5
Piscataway 5
Pradamano 5
Stockholm 5
Washington 5
Cairo 4
Can Tho 4
Chicago 4
Columbus 4
Curitiba 4
Denver 4
Dublin 4
Guarulhos 4
Houston 4
Hải Dương 4
Kuala Lumpur 4
London 4
Manaus 4
Medellín 4
Mexico City 4
Murfreesboro 4
Nuremberg 4
Orem 4
Palermo 4
Porto Alegre 4
Richmond 4
Vienna 4
Amman 3
Amsterdam 3
Baku 3
Bari 3
Belo Horizonte 3
Biên Hòa 3
Boydton 3
Campinas 3
Charlotte 3
Dammam 3
Dhaka 3
Düsseldorf 3
Fort Worth 3
Ghent 3
Hyderabad 3
Kamakura 3
Kingston 3
Las Vegas 3
Managua 3
Milwaukee 3
Mumbai 3
Paris 3
Pittsburgh 3
Prague 3
Queens 3
Quito 3
Rawalpindi 3
San José 3
Shanghai 3
Springfield 3
Verona 3
Akron 2
Totale 2.040
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Nome #
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study. 114
Characterization of human frataxin missense variants in cancer tissues 101
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation 93
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 82
Homo sapiens pro-nerve growth factor long variant (NGF) mRNA, complete cds, alternatively spliced 81
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 78
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 72
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 72
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations 68
Tra diritto di sapere e diritto di non sapere: gestire l’impatto della diagnosi di Malattia di Huntington 68
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study 66
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases. 65
DRPLA.Synonym: Dentatorubral-Pallidoluysian Atrophy 63
Clinical and molecular characterization of large cohort of patients with novel and recurrent CACNA1A gene mutations 62
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients 62
Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study 61
De novo TITF1 gene mutation causing Benign Hereditary Chorea with Hypothyroidism and Pituitary Mass 59
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation 59
Construction and preliminary characterization of human recombinant proNGF-A variant 58
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family 57
Leukocyte telomere shortening in Huntington's disease. 57
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea 56
Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias 55
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit. 54
Rattus norvegicus strain Wistar pro-nerve growth factor long variant (Ngf) mRNA, complete cds, alternatively spliced 54
Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2 51
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions 51
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. 51
Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. 48
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions 47
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 47
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia 47
A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2. 46
Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. 46
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum 46
Characterization of the promoter and new isoformes of CACNA1A gene 45
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes. 45
Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients 45
De Novo Mutations in PDE1 0A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 44
Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 44
Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims. 43
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 43
A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family 42
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 40
regioni regolatrici al 5' del gene CACNA1A e mutazioni FHM1 40
DNA markers in diagnosis of adult dominant polycystic kidney disease 38
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. 38
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes . 35
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 35
il meccanismo del non sense mediated mRNA decay controlla la degradazione dell'mRNA di CACNA1A murino contenente la mutazione leaner 34
Ordering of 44 genetic markers in the 6p22 cytogenetic band. 34
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 34
Clinical and molecular characterization of a large cohort of patients with novel and recurrent CACNA1A gene mutations. 32
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice. 32
ADCY5 screening in pediatric-onset hyperkinetic movement disorders: report of three new Italian families 31
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 31
Cluster di mutazioni di CACNA1A non troncanti la proteina che causano l'atassia episodica di tipo 2 (EA2) 31
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome 30
Clinical and genetic study of a family with Familial Hemiplegic Migraine. 30
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions 30
Use of DNA markers in diagnosis of Adult Dominant Polycystic Kidney Disease 30
A new Na/K ATPase mutation causes familil hemiplegic migraine type 2 with cerebellar signs 30
Molecular analysis of the gene CACNA1A: refined mapping of the containig region and screening for mutations in EA2. 30
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 29
Clusters di mutazioni di CACNA1A non troncanti la proteina che causano Atassia Episodica di tipo 2. 29
nuova mutazione SCA14, atassia episodica di tipo 2 senza episodi e atassia di friedereich pseudodominante in pazienti atassici con un genitore affetto, 29
NOVEL DE NOVO MUTATION CAUSING BENIGN HEREDITARY CHOREA WITH HYPOTHYROIDISM AND A PITUITARY MASS 27
Corea Ereditaria familiare: update clinico e genetico 26
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. 25
A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area 25
Analyzing the Effects of a G137V Mutation in the FXN Gene 25
Autosomal Dominant Episodic Ataxia: study of an italian family 22
Totale 3.450
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Categoria #
all - tutte 11.927
article - articoli 6.701
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 394
Totale 19.022
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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
2024/20251.281 6 3 86 37 355 36 12 85 51 73 296 241
2025/20261.722 89 162 205 216 307 56 264 68 74 127 98 56
2026/2027433 93 116 224 0 0 0 0 0 0 0 0 0
Totale 3.450