CNR Institutional Research Information System

ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
NA - Nord America 833
AS - Asia 544
EU - Europa 184
OC - Oceania 3
SA - Sud America 2
AF - Africa 1
Totale 1.567
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Nazione #
US - Stati Uniti d'America 828
SG - Singapore 491
IT - Italia 113
FI - Finlandia 25
CN - Cina 21
KR - Corea 17
DE - Germania 12
NL - Olanda 11
ES - Italia 7
AT - Austria 5
HK - Hong Kong 5
NZ - Nuova Zelanda 3
AE - Emirati Arabi Uniti 2
CA - Canada 2
IE - Irlanda 2
MX - Messico 2
PH - Filippine 2
SK - Slovacchia (Repubblica Slovacca) 2
UA - Ucraina 2
UZ - Uzbekistan 2
AL - Albania 1
AR - Argentina 1
BY - Bielorussia 1
CH - Svizzera 1
DK - Danimarca 1
EC - Ecuador 1
GB - Regno Unito 1
KH - Cambogia 1
KZ - Kazakistan 1
MA - Marocco 1
PA - Panama 1
SA - Arabia Saudita 1
TH - Thailandia 1
Totale 1.567
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Città #
Santa Clara 675
Singapore 288
Helsinki 25
Naples 17
Seoul 17
Los Angeles 12
Caltanissetta 9
Amsterdam 7
Guangzhou 7
Madrid 7
Rome 7
Cosenza 6
Hong Kong 5
Cerisano 4
Turin 4
Vienna 4
Boardman 3
Cagliari 3
Curinga 3
Falkenstein 3
Fossalta di Piave 3
Francavilla Angitola 3
Milan 3
Phoenix 3
Auckland 2
Bratislava 2
Dublin 2
Falerna 2
Forest City 2
Manila 2
Mariglianella 2
Mexico City 2
Reston 2
Tashkent 2
Venice 2
Almaty 1
Ashburn 1
Brescia 1
Buenos Aires 1
London 1
Marigliano 1
Minsk 1
New York 1
Newark 1
Ottawa 1
Phnom Penh 1
Quito 1
Rabat 1
Riyadh 1
Soccavo 1
Teverola 1
Tirana 1
Zurich 1
Totale 1.158
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Nome #
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 24
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 23
Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease 22
Association of Body Mass Index and Parkinson Disease A Bidirectional Mendelian Randomization Study 21
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 20
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy 18
Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease 18
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. 17
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 15
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 15
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 15
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 15
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia 14
Author's reply to the comment of Sironi et al. on "Compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism" 14
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 13
The DRD2 TaqIA polymorphism associated with changed midbrain volumes in healthy individuals. 13
DJ-1 is a Parkinson's disease susceptibility gene in southern Italy. 13
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 13
Idiopathic generalized epilepsy in a family with SCN4A-related myotonia 12
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 12
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 12
Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease. 11
ASSOCIATION STUDY BETWEEN THE LINGO1 GENE AND PARKINSON S DISEASE IN THE ITALIAN POPULATION 11
A novel mutation in the sodium-channel gene SCN1A in a patient with severe myoclonic epilepsy (SMEI) 11
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 11
A comprehensive mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 11
Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in Southern Italy. 11
Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. 10
Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism. 10
Association study of NACP-REP1 polymorphism and Parkinson's disease 10
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 10
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 10
A new CHCHD2 mutation identified in a southern italy patient with multiple system atrophy 10
Analysis of CHCHD2 gene in familial Parkinson’s disease from Calabria 10
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome 10
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjogren Syndrome 10
Association study between the LINGO1 gene and Parkinson s disease in the Italian population 10
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus 10
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. 10
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 10
A multicenter study of glucocerebrosidase mutations in dementia with lewy bodies. 10
DRD2 gene polymorphism and the risk of peak-dose dyskinesias in Parkinson's disease. 10
Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease. 9
A familial t(4;8) translocation segregates with epilepsy and migraine with aura. 9
ANXA1 mutation analysis in Italian patients with early onset PD 9
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 9
Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease. 9
Homer1 promoter analysis in Parkinson s disease: association study with psycotic symptoms. 9
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures 9
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers 9
Spinocerebellar ataxia type 7: report of a new Italian family. 9
Dentatorubral pallidoluysian atrophy: clinical and genetic analysis of a Sicilian pedigree 9
LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease 9
Reproductive factors and Parkinson's disease: A multicenter case-control study. 8
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 8
HOMER1 promoter analysis in Parkinson's disease: association study with psychotic symptoms. 8
Association study between G-protein-coupled receptor kinase 5 gene and Parkinson s disease 8
No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease in a case-control study 8
Mutational analysis of COASY in an Italian patient with NBIA 8
Farmacogenetica della risposta motoria alla levodopa in pazienti con malattia di Parkinson 8
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate 8
DENTATO-RUBRAL PALLIDOLUYSIAN ATROPHY: CLINICAL AND GENETIC ANALYSIS OF A SICILIAN PEDIGREE 8
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 8
Early-onset SCA17 with 43 TBP repeats: expanding the phenotype? 8
Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation 8
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 8
Early-onset Parkinson's disease associated with a new parkin mutation in an Italian patient 8
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 8
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Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study. 7
Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinson s disease 7
Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors 7
Studio clinico-genetico in una famiglia con quadro clinico di neurodegenerazione associata alla Pantotenato Chinasi. 7
Association of the 5-HT6 receptor gene polymorphism C26TT with Parkinson's disease 7
CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocità. 7
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 7
Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families 7
No evidence for association of high and low activity alleles of COMT with Parkinson's disease. 7
No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease ina case-control sample. 7
Individual susceptibility of dopaminergic responsiveness in "De Novo" patients with Parkinson's Disease 7
CAG repeat lenght and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity 7
Analisi Genetica e Clinica in 5 famiglie con espansione nucleotidica CAG del gene SCA1 7
The FRAGAMP study: environmental and genetic factors in Parkinson's disease, methods and clinical features. 7
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 7
Pharmacogenetics of motor response to levodopa in patients with Parkinson?s Disease 7
Mitochondrial DNA tRNACys mutation in a family with Frontotemporal Dementia and Parkinson s disease 7
Fahr's Disease Linked to a Novel SLC20A2 Gene Mutation Manifesting with Dynamic Aphasia. 7
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Identification of a novel mutation homozygous mutation in the SIL1 gene in Marinesco-Sjögren syndrome (MSS). 6
Ataxia with oculomotor apraxia in a family from southern italy : a clinical and genetic study 6
Molecular studies of the PANK2 gene in patients with PKAN 6
Mutational Analysis of the CHRNA4 and CHRNB2 genes in a family with autosomal dominant nocturnal frontal lobe epilepsy 6
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy. 6
Association study of NACP-Rep1 polymorphism and Parkinson?s Disease 6
A comprehensive mutation analysis of PINK1 gene in South Italy patients with early and late onset Parkinsonism. 6
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 6
Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. 6
A rapid non - isotopic method for sizing CTG repeat expansion in myotonic dystrophy 6
Oxidative stress in patients with myotonic dystrophy. 6
The fragile X premutation presenting as postprandial hypotension. 6
Totale 986
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Categoria #
all - tutte 9.311
article - articoli 5.412
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 14.723
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202450 0 0 0 0 0 0 0 0 3 0 36 11
2024/20251.586 35 14 294 228 638 92 82 97 106 0 0 0
Totale 1.636