CNR Institutional Research Information System

ANNESI, GRAZIA
 Distribuzione geografica
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Continente #
AS - Asia 242
NA - Nord America 99
EU - Europa 29
Totale 370
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Nazione #
SG - Singapore 201
US - Stati Uniti d'America 99
IT - Italia 26
CN - Cina 22
KR - Corea 19
AT - Austria 1
GB - Regno Unito 1
NL - Olanda 1
Totale 370
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Città #
Singapore 156
Santa Clara 35
Seoul 19
Guangzhou 7
Caltanissetta 6
Cosenza 6
Cerisano 4
Boardman 3
Forest City 2
Naples 2
Venice 2
Amsterdam 1
London 1
Teverola 1
Vienna 1
Totale 246
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Nome #
Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease 17
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 6
A comprehensive mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 5
Multiple system atrophy and C9orf72 hexanucleotide repeat expansions in a cohort of Italian patients 4
A familial t(4;8) translocation segregates with epilepsy and migraine with aura. 4
A novel mutation in the sodium-channel gene SCN1A in a patient with severe myoclonic epilepsy (SMEI) 4
A new CHCHD2 mutation identified in a southern italy patient with multiple system atrophy 4
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 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
Exome-wide association study of levodopa-induced dyskinesia in Parkinson's disease. 3
A SLC20A2 mutation identified in an asymptomatic patient with brain calcification 3
ASSOCIATION STUDY BETWEEN THE LINGO1 GENE AND PARKINSON S DISEASE IN THE ITALIAN POPULATION 3
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 3
The DRD2 TaqIA polymorphism associated with changed midbrain volumes in healthy individuals. 3
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
ANXA1 mutation analysis in Italian patients with early onset PD 3
Association of 5-HT6 receptor gene polymorphism C267T with Parkinson's disease 3
Relationship between SCN1A mutations and SMEI 3
Mutational analysis of COASY in an Italian patient with NBIA 3
A common founder for the Lrrk2 Gly2019Ser mutation in Italian PD patients . 3
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy 3
Analisi Genetica e Clinica in 5 famiglie con espansione nucleotidica CAG del gene SCA1 3
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. 3
Homer1 promoter analysis in Parkinson s disease: association study with psycotic symptoms. 3
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus 3
DENTATO-RUBRAL PALLIDOLUYSIAN ATROPHY: CLINICAL AND GENETIC ANALYSIS OF A SICILIAN PEDIGREE 3
Spinocerebellar ataxia type 7: report of a new Italian family. 3
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 3
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. 3
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. 3
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 3
Early-onset Parkinson's disease associated with a new parkin mutation in an Italian patient 3
Genotype-phenotype correlation in Italian CDG-la patients. 2
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
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 2
Fragile X premutation alleles in movement disorders. 2
Association of the 5-HT6 receptor gene polymorphism C26TT with Parkinson's disease 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
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease 2
Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study. 2
Genetic study of SCN1A-related epilepsies in southern Italy. 2
Polymorphism of dopamine D2, D3 and D4 receptors genes and Parkinson's disease. 2
Admixture analysis to define late onset Parkinson's disease: Moderating effect of the APOE gene 2
Non isotopic method for accurate detection of (CAG)(n) repeats causing Huntington disease 2
Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy 2
Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families 2
No evidence for association of high and low activity alleles of COMT with Parkinson's disease. 2
No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease ina case-control sample. 2
Mutation analysis of the ATP13A2 gene in patients with PD and MSA from Italy 2
Familial Temporal Lobe Epilepsy. Autosomal dominant inheritance in a large pedigree from southern Italy 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
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 2
5-HT6 receptor gene polymorphism and Parkinson's disease. 2
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study. 2
Three novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus. 2
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 2
Alpha-synuclein in familial Parkinson s disease and Lewy Body Dementia 2
Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome 2
LRRK2 mutation analysis in a cohort of Parkinson s Disease patients with a dominant pattern of inheritance from Southern Italy 2
The FRAGAMP study: environmental and genetic factors in Parkinson's disease, methods and clinical features. 2
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate 2
Confirmation of FEB3 locus and evidence of genetic heterogeneity in families with febrile seizures from southern Italy 2
Molecular studies of the PANK2 gene in patients with PKAN 2
Aceruloplasminemia: A novel splicing mutation preserving the globus pallidus from Iron accumulation 2
Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis 2
Early-onset SCA17 with 43 TBP repeats: expanding the phenotype? 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
Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy. 2
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 2
Lack of association between G-protein coupled receptor kinase 5 gene and Parkinson's disease 2
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study 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
A multicenter study of glucocerebrosidase mutations in dementia with lewy bodies. 2
FRAXE intermediate alleles are associated with Parkinson's disease. 2
Dentatorubral pallidoluysian atrophy: clinical and genetic analysis of a Sicilian pedigree 2
DRD2 gene polymorphism and the risk of peak-dose dyskinesias in Parkinson's disease. 2
Vitamin E deficiency due to chylomicron retention disease im Marinesco-Sjogren syndrome 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
La sindrome di Marinesco-Sjögren 2
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. 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
Totale 255
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Categoria #
all - tutte 4.133
article - articoli 2.357
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 6.490
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202453 0 0 0 0 0 0 0 0 3 0 39 11
2024/2025326 35 14 277 0 0 0 0 0 0 0 0 0
Totale 379