CNR Institutional Research Information System

VENEZIANO, LIANA
 Distribuzione geografica
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Continente #
AS - Asia 1.474
NA - Nord America 933
EU - Europa 348
SA - Sud America 249
AF - Africa 22
OC - Oceania 4
Totale 3.030
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Nazione #
US - Stati Uniti d'America 874
SG - Singapore 613
CN - Cina 319
BR - Brasile 214
VN - Vietnam 165
HK - Hong Kong 148
FR - Francia 88
IT - Italia 84
NL - Olanda 57
KR - Corea 53
BD - Bangladesh 52
IN - India 31
GB - Regno Unito 29
CA - Canada 28
JP - Giappone 25
DE - Germania 24
FI - Finlandia 19
AR - Argentina 14
MX - Messico 11
AT - Austria 10
TR - Turchia 10
IL - Israele 8
PK - Pakistan 8
CO - Colombia 7
ZA - Sudafrica 7
EC - Ecuador 6
ID - Indonesia 6
IQ - Iraq 6
SA - Arabia Saudita 6
DO - Repubblica Dominicana 5
IE - Irlanda 5
SE - Svezia 5
AU - Australia 4
CR - Costa Rica 4
UA - Ucraina 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
AZ - Azerbaigian 3
BE - Belgio 3
CZ - Repubblica Ceca 3
EG - Egitto 3
JO - Giordania 3
MY - Malesia 3
NI - Nicaragua 3
RU - Federazione Russa 3
CL - Cile 2
DZ - Algeria 2
ES - Italia 2
JM - Giamaica 2
KE - Kenya 2
KZ - Kazakistan 2
MR - Mauritania 2
OM - Oman 2
PT - Portogallo 2
PY - Paraguay 2
RO - Romania 2
SV - El Salvador 2
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BG - Bulgaria 1
BM - Bermuda 1
BS - Bahamas 1
CI - Costa d'Avorio 1
EE - Estonia 1
ET - Etiopia 1
HR - Croazia 1
HU - Ungheria 1
LB - Libano 1
LT - Lituania 1
MA - Marocco 1
ML - Mali 1
MN - Mongolia 1
NG - Nigeria 1
NP - Nepal 1
PH - Filippine 1
PL - Polonia 1
PR - Porto Rico 1
SY - Repubblica araba siriana 1
TN - Tunisia 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 3.030
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Città #
Singapore 354
Santa Clara 350
Hefei 143
Hong Kong 140
San Jose 120
Beijing 69
Lauterbourg 61
Ho Chi Minh City 60
Ashburn 59
Seoul 53
Hanoi 38
Rome 28
Los Angeles 27
Dallas 24
São Paulo 23
New York 18
Buffalo 10
Helsinki 10
Frankfurt am Main 9
Da Nang 8
Minamishinagawa 8
Bengaluru 7
Brasília 7
Istanbul 7
Milan 7
Portsmouth 7
Lappeenranta 6
Manchester 6
Montreal 6
Tokyo 6
Toronto 6
Brooklyn 5
Bình Dương Province 5
Chennai 5
Council Bluffs 5
Haiphong 5
Naples 5
Piscataway 5
Rio de Janeiro 5
Stockholm 5
Boston 4
Can Tho 4
Curitiba 4
Dublin 4
Guarulhos 4
Hải Dương 4
London 4
Manaus 4
Murfreesboro 4
Nuremberg 4
Orem 4
Phoenix 4
Porto Alegre 4
Vienna 4
Amman 3
Amsterdam 3
Baku 3
Bari 3
Belo Horizonte 3
Biên Hòa 3
Boydton 3
Cairo 3
Campinas 3
Charlotte 3
Chicago 3
Dammam 3
Denver 3
Düsseldorf 3
Fort Worth 3
Ghent 3
Hyderabad 3
Kamakura 3
Managua 3
Miami 3
Milwaukee 3
Mumbai 3
Palermo 3
Paris 3
Philadelphia 3
Pittsburgh 3
Prague 3
Rawalpindi 3
San José 3
Alagoinhas 2
Arapongas 2
Atlanta 2
Balch Springs 2
Bentonville 2
Blumenau 2
Boardman 2
Bogotá 2
Bắc Giang 2
Campo Grande 2
Cao Lanh 2
Cascavel 2
Casimiro de Abreu 2
Cicciano 2
Clinton 2
Dhaka 2
Duque de Caxias 2
Totale 1.899
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Nome #
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study. 106
Characterization of human frataxin missense variants in cancer tissues 98
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation 87
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 74
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 68
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 65
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 64
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study 62
Clinical and molecular characterization of large cohort of patients with novel and recurrent CACNA1A gene mutations 61
DRPLA.Synonym: Dentatorubral-Pallidoluysian Atrophy 60
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients 58
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
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations 55
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases. 55
Tra diritto di sapere e diritto di non sapere: gestire l’impatto della diagnosi di Malattia di Huntington 55
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation 54
Leukocyte telomere shortening in Huntington's disease. 54
Construction and preliminary characterization of human recombinant proNGF-A variant 53
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
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit. 50
Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2 48
Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family 46
Functional characterization of a novel mutations in TITF-1 in a patient with Benign Hereditary Chorea. 46
Genes that affect synaptic excitability and transmission identified by rare variant analyses in episodic ataxias 45
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions 44
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 42
Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims. 40
Characterization of the promoter and new isoformes of CACNA1A gene 40
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions 40
Truncating and non truncating mutation of P/Q Ca2+ channel subunit Cav 2.1 causing episodic ataxia 2 in a large sample of patients 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
A small CAG expansion of the CACNA1A4 gene as a cause of episodic ataxia type 2. 39
De Novo Mutations in PDE1 0A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 39
The C-terminus of P/Q type voltage gated calcium channel Alpha1A subunit (Cav2.1) modulates the transcription of the other neuronal genes. 38
A new missense mutation in the cys 2 regulatory domain of PRKCG gene causing spinocerebellar ataxia type 14 in an italian family 38
DNA markers in diagnosis of adult dominant polycystic kidney disease 37
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 37
Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. 35
Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 35
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders. 34
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 . 32
il meccanismo del non sense mediated mRNA decay controlla la degradazione dell'mRNA di CACNA1A murino contenente la mutazione leaner 31
Ordering of 44 genetic markers in the 6p22 cytogenetic band. 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
Clinical and genetic study of a family with Familial Hemiplegic Migraine. 29
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 29
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 29
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions 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
Use of DNA markers in diagnosis of Adult Dominant Polycystic Kidney Disease 27
Cluster di mutazioni di CACNA1A non troncanti la proteina che causano l'atassia episodica di tipo 2 (EA2) 27
Molecular analysis of the gene CACNA1A: refined mapping of the containig region and screening for mutations in EA2. 27
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 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
nuova mutazione SCA14, atassia episodica di tipo 2 senza episodi e atassia di friedereich pseudodominante in pazienti atassici con un genitore affetto, 25
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. 24
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. 24
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice. 24
NOVEL DE NOVO MUTATION CAUSING BENIGN HEREDITARY CHOREA WITH HYPOTHYROIDISM AND A PITUITARY MASS 23
Corea Ereditaria familiare: update clinico e genetico 22
Analyzing the Effects of a G137V Mutation in the FXN Gene 22
Autosomal Dominant Episodic Ataxia: study of an italian family 21
A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area 21
Totale 3.072
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Categoria #
all - tutte 10.469
article - articoli 5.875
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 358
Totale 16.702
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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
2026/202755 55 0 0 0 0 0 0 0 0 0 0 0
Totale 3.072