CNR Institutional Research Information System

VENEZIANO, LIANA
 Distribuzione geografica
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Continente #
AS - Asia 1.444
NA - Nord America 849
EU - Europa 334
SA - Sud America 247
AF - Africa 22
OC - Oceania 4
Totale 2.900
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Nazione #
US - Stati Uniti d'America 806
SG - Singapore 613
CN - Cina 319
BR - Brasile 213
VN - Vietnam 165
HK - Hong Kong 148
FR - Francia 88
IT - Italia 72
NL - Olanda 56
KR - Corea 53
IN - India 30
GB - Regno Unito 29
JP - Giappone 25
DE - Germania 24
BD - Bangladesh 23
CA - Canada 20
FI - Finlandia 19
AR - Argentina 14
MX - Messico 11
TR - Turchia 10
AT - Austria 9
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
UA - Ucraina 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
AZ - Azerbaigian 3
BE - Belgio 3
CR - Costa Rica 3
CZ - Repubblica Ceca 3
EG - Egitto 3
JO - Giordania 3
MY - Malesia 3
RU - Federazione Russa 3
DZ - Algeria 2
ES - Italia 2
KE - Kenya 2
KZ - Kazakistan 2
MR - Mauritania 2
OM - Oman 2
PT - Portogallo 2
PY - Paraguay 2
RO - Romania 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
CL - Cile 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
SV - El Salvador 1
SY - Repubblica araba siriana 1
TN - Tunisia 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 2.900
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Città #
Singapore 354
Santa Clara 349
Hefei 143
Hong Kong 140
San Jose 118
Beijing 69
Lauterbourg 61
Ho Chi Minh City 60
Ashburn 53
Seoul 53
Hanoi 38
Rome 26
Los Angeles 25
São Paulo 23
Dallas 22
New York 17
Helsinki 10
Frankfurt am Main 9
Buffalo 8
Da Nang 8
Minamishinagawa 8
Bengaluru 7
Brasília 7
Istanbul 7
Portsmouth 7
Lappeenranta 6
Manchester 6
Tokyo 6
Brooklyn 5
Bình Dương Province 5
Chennai 5
Council Bluffs 5
Haiphong 5
Milan 5
Rio de Janeiro 5
Stockholm 5
Toronto 5
Boston 4
Can Tho 4
Curitiba 4
Dublin 4
Guarulhos 4
Hải Dương 4
London 4
Manaus 4
Montreal 4
Naples 4
Nuremberg 4
Orem 4
Phoenix 4
Porto Alegre 4
Vienna 4
Amman 3
Amsterdam 3
Baku 3
Belo Horizonte 3
Biên Hòa 3
Boydton 3
Cairo 3
Campinas 3
Charlotte 3
Chicago 3
Dammam 3
Denver 3
Düsseldorf 3
Ghent 3
Hyderabad 3
Kamakura 3
Miami 3
Palermo 3
Paris 3
Philadelphia 3
Piscataway 3
Prague 3
Rawalpindi 3
Alagoinhas 2
Arapongas 2
Atlanta 2
Bari 2
Blumenau 2
Bogotá 2
Bắc Giang 2
Campo Grande 2
Cao Lanh 2
Cascavel 2
Casimiro de Abreu 2
Cicciano 2
Dhaka 2
Duque de Caxias 2
Elk Grove Village 2
Go Vap 2
Governador Valadares 2
Guayaquil 2
Hangzhou 2
Honolulu 2
Islamabad 2
João Pessoa 2
Kuala Lumpur 2
Kyiv 2
Lisbon 2
Totale 1.864
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Nome #
Characterization of human frataxin missense variants in cancer tissues 96
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study. 91
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
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 64
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia 64
Clinical and molecular characterization of large cohort of patients with novel and recurrent CACNA1A gene mutations 60
Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study 59
DRPLA.Synonym: Dentatorubral-Pallidoluysian Atrophy 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
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
Tra diritto di sapere e diritto di non sapere: gestire l’impatto della diagnosi di Malattia di Huntington 54
Leukocyte telomere shortening in Huntington's disease. 53
Molecular mechanism of Spinocerebellar Ataxia type 6:Glutamine repeat disorder,channelopathy and transcriptional dysregulation.The multifaceted aspects of a single mutation 52
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 52
Construction and preliminary characterization of human recombinant proNGF-A variant 52
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
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients 49
Mutation analysis and regulating region characterization of CACNA1A gene coding for P/Q voltage-gated calcium channel 1A subunit. 46
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
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions 43
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
Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims. 40
Intronic ATTTC repeat expansions in STARD7 in fam ilial adult myoclonic epilepsy linked to chromosome 2 40
Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum 40
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
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions 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
DNA markers in diagnosis of adult dominant polycystic kidney disease 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
Mutation analysis and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 35
Episodi Ataxia 2, Sinocerebellar Ataxia 6 and CACNA1A gene mutations. 33
regioni regolatrici al 5' del gene CACNA1A e mutazioni FHM1 33
De Novo Mutations in PDE1 0A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 32
Mutation analisys and regulation region characterization of CACNA1A gene coding for P/Q voltage gated calcium channel alpha 1a subunit 32
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
Ordering of 44 genetic markers in the 6p22 cytogenetic band. 31
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions. 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
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
Clinical and molecular characterization of a large cohort of patients with novel and recurrent CACNA1A gene mutations. 29
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions 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
Molecular analysis of the gene CACNA1A: refined mapping of the containig region and screening for mutations in EA2. 27
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
ADCY5 screening in pediatric-onset hyperkinetic movement disorders: report of three new Italian families 25
Use of DNA markers in diagnosis of Adult Dominant Polycystic Kidney Disease 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
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 24
NOVEL DE NOVO MUTATION CAUSING BENIGN HEREDITARY CHOREA WITH HYPOTHYROIDISM AND A PITUITARY MASS 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
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
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. 21
A multistep process for the dispersal of a Y chromosomal lineage in the Mediterranean area 21
Totale 2.942
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Categoria #
all - tutte 9.445
article - articoli 5.315
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 321
Totale 15.081
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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
2025/20261.647 89 162 205 216 307 56 264 68 74 127 79 0
Totale 2.942