CNR Institutional Research Information System

DE MARCO, ELVIRA VALERIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
AS - Asia 128
NA - Nord America 60
EU - Europa 23
Totale 211
Salva come PNG Salva come JPEG
Nazione #
SG - Singapore 105
US - Stati Uniti d'America 60
IT - Italia 22
KR - Corea 16
CN - Cina 7
GB - Regno Unito 1
Totale 211
Salva come PNG Salva come JPEG
Città #
Singapore 81
Seoul 16
Santa Clara 15
Cerisano 4
Cosenza 4
Guangzhou 4
Boardman 3
Caltanissetta 2
Forest City 2
Messina 2
Milan 2
Naples 2
Springfield 2
London 1
Teverola 1
Totale 141
Salva come PNG Salva come JPEG
Nome #
Associazione tra la subunità 2B del recettore NMDA (gene GRIN2B) e la malattia di Alzheimer 6
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders 5
A comprehensive mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 5
A novel mutation in the sodium-channel gene SCN1A in a patient with severe myoclonic epilepsy (SMEI) 4
Role of the Neuregulin 1 gene (NRG1) in multiple sclerosis 4
Author's reply to the comment of Sironi et al. on "Compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism" 4
A WHOLE mtDNA NGS APPROACH TO IDENTIFY NOVEL VARIANTS IN PATIENTS AFFECTED BY MITOCHONDRIAL DISEASES 4
Studio clinico-genetico in una famiglia con quadro clinico di neurodegenerazione associata alla Pantotenato Chinasi. 3
Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. 3
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 3
Association study between G-protein-coupled receptor kinase 5 gene and Parkinson s disease 3
La sindrome di Mc Leod: un caso clinico 3
Relationship between SCN1A mutations and SMEI 3
A common founder for the Lrrk2 Gly2019Ser mutation in Italian PD patients . 3
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus 3
Potential involvement of GRIN2B encoding the NMDA receptor subunit NR2B in the spectrum of Alzheimer's disease 3
Spinocerebellar ataxia type 7: report of a new Italian family. 3
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 3
Early-onset Parkinson's disease associated with a new parkin mutation in an Italian patient 3
Mutational Analysis of the CHRNA4 and CHRNB2 genes in a family with autosomal dominant nocturnal frontal lobe epilepsy 2
Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease. 2
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. 2
Fragile X premutation alleles in movement disorders. 2
A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. 2
HOMER1 promoter analysis in Parkinson's disease: association study with psychotic symptoms. 2
Genetic study of SCN1A-related epilepsies in southern Italy. 2
No evidence for association of high and low activity alleles of COMT with Parkinson's disease. 2
A novel exon 1 mutation in a patient with atypical Lafora?s progressive myoclonus epilepsy presenting as childhood onset cognitive deficit. 2
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy. 2
Association between DJ-1 gene polymorphism and Parkinson disease 2
A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. 2
5-HT6 receptor gene polymorphism and Parkinson's disease. 2
A hypofibrinolytic state in overweight patients with cerebral venous thrombosis and isolated intracranial hypertension 2
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. 2
Alpha-synuclein in familial Parkinson s disease and Lewy Body Dementia 2
Ruolo del gene Neuregulin 1 (NRG1) nella Sclerosi Multipla 2
LRRK2 mutation analysis in a cohort of Parkinson s Disease patients with a dominant pattern of inheritance from Southern Italy 2
Copy Number Variants in Alzheimer's Disease 2
Molecular studies of the PANK2 gene in patients with PKAN 2
The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease 2
ASSOCIATION STUDY BETWEEN HFE, TF , TFR1 GENES AND PARKINSON S DISEASE 2
E163L homozygous dj-1 mutation in a family from southern italy with ayotrophic lateral sclerosis-parkinsonism-dementia complex 2
Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease 2
A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. 2
A novel exon 1 mutation in a patient with atypical Lafora?s progressive myoclonus epilepsy presenting as childhood-onset cognitive deficit. 2
FREQUENZA DELLE MUTAZIONI IN ETEROZIGOSI NEI GENI PARK2 PINK1 E DJ-1 IN PAZIENTI DEL SUD-ITALIA CON MALATTIA DI PARKINSON AD ESORDIO PRECOCE 2
A multicenter study of glucocerebrosidase mutations in dementia with lewy bodies. 2
Huntington's disease-like syndrome: a case report 2
FRAXE intermediate alleles are associated with Parkinson's disease. 2
Association between DJ-1 gene polymorphism and PD 2
LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease 2
Ceruloplasmin gene variations and Parkinson s disease: an association study in Southern Italian population. 2
Novel human pathological mutations. Gene symbol: PARK2. Disease: Parkinson's disease. 2
Identification of a novel mutation homozygous mutation in the SIL1 gene in Marinesco-Sjögren syndrome (MSS). 1
Ataxia with oculomotor apraxia in a family from southern italy : a clinical and genetic study 1
Clinic and genetic study in a family with a clinical picture of pantothenate kinase-associated neurodegeneration . 1
Molecular studies of the PANK2 gene in patients with PKAN 1
Alpha synuclein in familial parkinson s disease and lewy body dementia. 1
Genetic analysis of SCA2 and SCA17 in familial Parkinson s disease. 1
Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinson s disease 1
Molecular analysis of the SCN1A gene in patients with Severe Myoclonic Epilepsy of Infancy 1
PARKIN, PINK1 AND DJ-1 HETEROZYGOUS MUTATIONS IN SOUTHERN ITALIAN PATIENTS WITH EARLY-ONSET PARKINSONISM 1
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 1
Analisi mutazionale del gene parkina in pazienti affetti da malattia a insorgenza giovanile: identificazione di nuove varianti. 1
Identification of a new mutation in the EPM2A gene in Lafora?s Disease 1
Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study. 1
IDENTIFICATION OF A NOVEL HOMOZYGOUS MUTATION IN THE SIL1 GENE IN MARINESCO-SJOGREN SYNDROME 1
Association study of NACP-Rep1 polymorphism and Parkinson?s Disease 1
Mutational analysis of EFHC1 gene in Italy families with Juvenile Myoclonic Epilepsy 1
Relationship between SCN1A mutations and Severe Myoclonic Epilepsy in Infancy 1
G-463A myeloperoxidase polymorphism and parkinson s disease 1
The Tau haplotype contributes to susceptibility to Parkinson s disease in a Souther Italy population. 1
A rapid non - isotopic method for sizing CTG repeat expansion in myotonic dystrophy 1
gene-dosage influences the age at onset of SCA2 1
Mutational analysis of the DCX and LIS1 genes in patients with Lissencephaly and Subcortical band heterotopia from Southern Italy 1
Parkin, Pink1 and DJ-1 heterozygous mutations in southern italian patients with early-onset parkinsonism. 1
Alpha-synuclein promoter haplotypes and dementia in Parkinson s disease . 1
Alpha-synuclein promoter haplotypes and dementia in Parkinson s disease . 1
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease a multicenter study. 1
Glucocerebrosidase gene mutations are associated with Parkinson s disease in a population from Souther Italy. 1
Mutational analysis of EFHC1 gene in families with JME 1
Genetic analysis of three Serbian families with GEFS+ 1
Three novel SCN1A Missense mutations in generalized epilepsy with febrile seizures plus 1
Fraxe intermediate alleles are associated with Parkinson s disease 1
ANALISI CLINICO-GENETICA IN UNA FAMIGLIA ITALIANA CON ATASSIA SPINOCEREBELLARE AUTOSOMICO-DOMINANTE 1
Hb F-Cosenza or Gg25 (B7) GLY->GLU: a new fast-moving fetal hemoglobin variant 1
Mutational and linkage analysis in a family with autosomal dominant nocturnal frontal lobe epilepsy 1
Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to multiple sclerosis 1
Parkin mutations in patients with early onset parkinsonism . 1
Ataxia with oculomotor apraxia in a family from southern italy : a clinical and genetic study . 1
Parkin gene analysis in late onset Parkinson s disease families 1
Association study between the LINGO1 gene and Parkinson s disease in the Italian population 1
Mutation analysis of the GRIN2B gene in Alzheimer's disease 1
Screening for PINK1 mutations in patients with early and late-onset Parkinson s disease 1
Gene-dosage influences the age at onset of SCA2 in a family from southern Italy 1
DJ-1 gene in late-onset recessive Parkinsons disease 1
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. 1
Ataxia with oculomotor apraxia in a family from southern Italy 1
Farmacogenetica della risposta motoria alla levodopa in pazienti con malattia di Parkinson 1
Mitochondrial DNA haplogroups and the risk of Parkinson disease in a cohort of patients from South Italy 1
Totale 183
Salva come PNG Salva come JPEG
Categoria #
all - tutte 2.544
article - articoli 836
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.380
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202435 0 0 0 0 0 0 0 0 2 0 22 11
2024/2025176 9 13 154 0 0 0 0 0 0 0 0 0
Totale 211