CNR Institutional Research Information System

DE MARCO, ELVIRA VALERIA
 Distribuzione geografica
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Continente #
AS - Asia 3.378
NA - Nord America 1.297
EU - Europa 721
SA - Sud America 642
AF - Africa 54
OC - Oceania 5
Totale 6.097
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Nazione #
SG - Singapore 1.433
US - Stati Uniti d'America 1.232
CN - Cina 755
BR - Brasile 553
VN - Vietnam 359
HK - Hong Kong 326
IT - Italia 237
FR - Francia 235
KR - Corea 154
JP - Giappone 147
NL - Olanda 88
IN - India 60
DE - Germania 43
AR - Argentina 27
BD - Bangladesh 24
GB - Regno Unito 22
IL - Israele 21
CA - Canada 20
FI - Finlandia 20
ID - Indonesia 18
MX - Messico 18
CO - Colombia 16
ES - Italia 16
ZA - Sudafrica 16
EC - Ecuador 12
PY - Paraguay 11
RU - Federazione Russa 11
IQ - Iraq 10
TR - Turchia 10
EG - Egitto 9
PK - Pakistan 8
UA - Ucraina 8
UZ - Uzbekistan 8
MA - Marocco 7
PE - Perù 7
TN - Tunisia 7
AE - Emirati Arabi Uniti 6
CH - Svizzera 6
PL - Polonia 6
TT - Trinidad e Tobago 6
VE - Venezuela 6
AZ - Azerbaigian 5
CL - Cile 5
KE - Kenya 4
KZ - Kazakistan 4
PA - Panama 4
BY - Bielorussia 3
HN - Honduras 3
JM - Giamaica 3
LB - Libano 3
LV - Lettonia 3
NI - Nicaragua 3
NP - Nepal 3
SA - Arabia Saudita 3
SE - Svezia 3
UY - Uruguay 3
AL - Albania 2
AT - Austria 2
AU - Australia 2
BG - Bulgaria 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
ET - Etiopia 2
GE - Georgia 2
GT - Guatemala 2
HR - Croazia 2
IR - Iran 2
LA - Repubblica Popolare Democratica del Laos 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
TH - Thailandia 2
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
CI - Costa d'Avorio 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
GF - Guiana Francese 1
GR - Grecia 1
IE - Irlanda 1
JO - Giordania 1
KG - Kirghizistan 1
KH - Cambogia 1
LK - Sri Lanka 1
LT - Lituania 1
ME - Montenegro 1
MT - Malta 1
NC - Nuova Caledonia 1
OM - Oman 1
PH - Filippine 1
PR - Porto Rico 1
QA - Qatar 1
RO - Romania 1
RS - Serbia 1
SI - Slovenia 1
Totale 6.093
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Città #
Singapore 830
Santa Clara 427
Hefei 341
Hong Kong 320
San Jose 210
Lauterbourg 170
Seoul 153
Ho Chi Minh City 131
Tokyo 125
Beijing 122
Ashburn 84
Hanoi 83
Dallas 55
São Paulo 52
Los Angeles 51
Buffalo 27
Milan 20
Rio de Janeiro 20
Minamishinagawa 19
Bengaluru 17
Helsinki 17
Frankfurt am Main 16
Da Nang 13
New York 13
Orem 13
Belo Horizonte 12
Brasília 12
Rome 12
Turin 12
Brooklyn 11
Chennai 11
Biên Hòa 9
Bologna 9
Curitiba 9
Haiphong 9
Porto Alegre 9
Bari 8
Bắc Ninh 8
Guangzhou 8
Guarulhos 8
Hải Dương 8
Tashkent 8
Chicago 7
Madrid 7
Montreal 7
Mumbai 7
Naples 7
Phoenix 7
Quito 7
Salvador 7
Bogotá 6
Cairo 6
Campinas 6
Johannesburg 6
Joinville 6
Lấp Vò 6
Ribeirão Preto 6
Santo André 6
Boardman 5
Goiânia 5
Houston 5
Mauá 5
Memphis 5
Nuremberg 5
Paris 5
Phủ Lý 5
Port of Spain 5
Shanghai 5
São Leopoldo 5
Taranto 5
Aparecida de Goiânia 4
Asunción 4
Baghdad 4
Baku 4
Buenos Aires 4
Bình An 4
Bắc Giang 4
Bến Tre 4
Can Tho 4
Cerisano 4
Chengdu 4
Cosenza 4
Feira de Santana 4
Fortaleza 4
Ha Long 4
Itajaí 4
Ligornetto 4
Lima 4
Manaus 4
Montes Claros 4
Nairobi 4
Nha Trang 4
Praia Grande 4
Quận Chín 4
Thái Nguyên 4
Tunis 4
Verona 4
Vũng Tàu 4
Warsaw 4
Amsterdam 3
Totale 3.775
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Nome #
La sindrome di Mc Leod: un caso clinico 210
G-463A myeloperoxidase polymorphism and parkinson s disease 83
Associazione tra la subunità 2B del recettore NMDA (gene GRIN2B) e la malattia di Alzheimer 83
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 79
Ataxia with oculomotor apraxia in a family from southern italy : a clinical and genetic study 76
Clinic and genetic study in a family with a clinical picture of pantothenate kinase-associated neurodegeneration . 73
Identification of a novel mutation homozygous mutation in the SIL1 gene in Marinesco-Sjögren syndrome (MSS). 71
Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study. 71
Alpha synuclein in familial parkinson s disease and lewy body dementia. 67
A WHOLE mtDNA NGS APPROACH TO IDENTIFY NOVEL VARIANTS IN PATIENTS AFFECTED BY MITOCHONDRIAL DISEASES 66
Application of Maldi-Tof mass spectrometry analysis to the study of pheripheral nervous system myelin proteins. 63
Molecular studies of the PANK2 gene in patients with PKAN 62
Association study between the LINGO1 gene and Parkinson s disease in the Italian population 61
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy. 60
Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease 59
Analisi mutazionale del gene SCN2A in famiglie italiane con Convulsioni Neonatali-Infantili Familiari Benigne (BFINS). 58
Potential involvement of GRIN2B encoding the NMDA receptor subunit NR2B in the spectrum of Alzheimer's disease 57
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 57
G-protein-coupled receptor kinase 5 and dementia in Parkinson s disease 56
Genetic analysis of SCA2 and SCA17 in familial Parkinson s disease. 55
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease a multicenter study. 54
Ruolo del gene Neuregulin 1 (NRG1) nella Sclerosi Multipla 53
Copy Number Variants in Alzheimer's Disease 53
McLeod syndrome in an Italian patient 53
Huntington's disease-like syndrome: a case report 53
Mutational Analysis of the CHRNA4 and CHRNB2 genes in a family with autosomal dominant nocturnal frontal lobe epilepsy 52
Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease. 52
A multicenter study of glucocerebrosidase mutations in dementia with lewy bodies. 52
DESCRIPTION OF A FOUR-GENERATION FAMILY WITH AUTOSOMAL DOMINANT CEREBELLAR ATAXIA: CLINICAL AND GENETIC ANALYSIS 51
DJ-1 gene confers susceptibility to Parkinson s disease. 50
Peripheral Nervous system proteins identified by SDS-PAGE and MALDI-TOF Mass Spectrometry analysis. 50
Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in Southern Italy. 49
Role of the Neuregulin 1 gene (NRG1) in multiple sclerosis 48
A comprehensive mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 46
G-protein-coupled receptor kinase 5 and dementia in Parkinsons disease. 44
Author's reply to the comment of Sironi et al. on "Compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism" 44
Mutation analysis of the GRIN2B gene in Alzheimer's disease 40
HOMER1 promoter analysis in Parkinson's disease: association study with psychotic symptoms. 39
Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. 39
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus 39
Linkage analysis in three families from southern Italy with autosomal dominant nocturnal frontal lobe epilepsy . 38
Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. 38
Spinocerebellar ataxia type 7: report of a new Italian family. 38
STUDIO DI ASSOCIAZIONE TRA I GENI HFE, TF, TFR E LA MALATTIA DI PARKINSON 37
A novel mutation in the sodium-channel gene SCN1A in a patient with severe myoclonic epilepsy (SMEI) 36
Association study between G-protein-coupled receptor kinase 5 gene and Parkinson s disease 36
Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. 35
Genetic study of SCN1A-related epilepsies in southern Italy. 35
Myocardial (123)I-MIBG scintigraphy for differentiation of Lewy bodies disease from FTD. 35
Mutational Analysis of the DCX, LIS1, FLNA genes in patients with neuronal migration disorders from Southern Italy 34
Farmacogenetica della risposta motoria alla levodopa in pazienti con malattia di Parkinson 34
Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinson s disease 33
A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. 33
No evidence for association of high and low activity alleles of COMT with Parkinson's disease. 33
Analisi mutazionale del gene parkina in pazienti affetti da malattia a insorgenza giovanile: identificazione di nuove varianti. 32
Glucocerebrosidase gene mutations are associated with Parkinson s disease in a population from Souther Italy. 32
Alpha-synuclein in familial Parkinson s disease and Lewy Body Dementia 32
Ceruloplasmin gene variations and Parkinson s disease: an association study in Southern Italian population. 32
Molecular analysis of the SCN1A gene in patients with Severe Myoclonic Epilepsy of Infancy 31
Fragile X premutation alleles in movement disorders. 31
Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. 31
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 31
A rapid non-isotopic method for sizing CTG repeat expansion in myiotonic dystrophy. 31
MOLECULAR ANALYSIS OF THE SCN1A GENE IN SOUTHERN ITALIAN PATIENTS WITH SEVERE MYOCLONIC EPILEPSY OF INFANCY. 31
Association study of NACP-Rep1 polymorphism and Parkinson?s Disease 30
Studio clinico-genetico in una famiglia con quadro clinico di neurodegenerazione associata alla Pantotenato Chinasi. 30
A rapid non - isotopic method for sizing CTG repeat expansion in myotonic dystrophy 30
Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy. 30
A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. 30
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 29
Hb F-Cosenza or Gg25 (B7) GLY->GLU: a new fast-moving fetal hemoglobin variant 29
A hypofibrinolytic state in overweight patients with cerebral venous thrombosis and isolated intracranial hypertension 29
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. 29
Analisi di linkage in tre famiglie con Epilessia Frontale Notturna autosomica dominante. 29
Early-onset Parkinson's disease associated with a new parkin mutation in an Italian patient 29
Mutational analysis of EFHC1 gene in Italy families with Juvenile Myoclonic Epilepsy 28
Association study between HFE, TF, TFR1 genes and Parkinson disease. 28
Pharmacogenetics of motor response to levodopa in patients with Parkinson?s Disease 28
Gene-dosage influences the age at onset of SCA2 in a family from southern Italy 27
Mutational analysis of SCN2A gene in italian families with benign familial neonatal-infantile seizures (BFNIS) . 27
Genetic analysis of SCA2 and SCA17 in familial Parkinson s disease. 27
The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease 27
Description of a four-generation family with autosomal dominant cerebellar ataxia: clinical and genetic analysis. 26
Parkin, Pink1 and DJ-1 heterozygous mutations in southern italian patients with early-onset parkinsonism. 26
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. 26
G-PROTEIN-COUPLED RECEPTOR KINASE 5 AND DEMENTIA IN PARKINSON S DISEASE 26
LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease 26
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. 25
Parkin mutations in patients with early onset parkinsonism . 25
5-HT6 receptor gene polymorphism and Parkinson's disease. 25
Pink1 mutations and the risk of Parkinson s disease in family members of Southern Italy 25
Studio di linkage in tre famiglie calabresi con epilessia frontale notturna autosomica dominante 25
Association between DJ-1 gene polymorphism and PD 25
IDENTIFICATION OF A NOVEL HOMOZYGOUS MUTATION IN THE SIL1 GENE IN MARINESCO-SJOGREN SYNDROME 24
Screening for PINK1 mutations in patients with early-and late-onset Parkinson s disease 24
ANALISI MUTAZIONALE DEI GENI RESPONSABILI DELLA MALATTIA DI PARKINSON AD ESORDIO PRECOCE IN UNA POPOLAZIONE DEL SUD ITALIA 24
Screening mutazionale del DJ-1 in pazienti con malattia di Parkinson ad esordio precoce. 24
Three novel SCN1A Missense mutations in generalized epilepsy with febrile seizures plus 24
A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. 24
Relationship between SCN1A mutations and SMEI 24
Totale 4.201
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Categoria #
all - tutte 19.210
article - articoli 6.127
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 25.337
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202433 0 0 0 0 0 0 0 0 2 0 20 11
2024/20252.284 9 13 164 125 414 39 41 64 26 98 661 630
2025/20263.786 201 426 372 576 632 129 605 224 303 231 87 0
Totale 6.103