IRIS
PULITI, ALDAMARIA
 Distribuzione geografica
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Continente #
EU - Europa 11.915
AS - Asia 12
SA - Sud America 2
Totale 11.929
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Nazione #
IT - Italia 11.915
CN - Cina 11
BR - Brasile 2
VN - Vietnam 1
Totale 11.929
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Città #
Genova 6.447
Genoa 3.500
Rapallo 1.011
Vado Ligure 941
Bordighera 16
Beijing 2
Ouro Preto 1
Thái Bình 1
Tietê 1
Totale 11.920
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Nome #
Assessment of copy number variations in 120 patients with Poland syndrome 205
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 202
In-vivo effects of knocking-down metabotropic glutamate receptor 5 in the SOD1G93A mouse model of amyotrophic lateral sclerosis. 195
In-vivo genetic ablation of metabotropic glutamate receptor type 5 slows down disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis 193
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. 171
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 171
Presynaptic mGlu1 Receptors Control GABAB Receptors in an Antagonist-Like Manner in Mouse Cortical GABAergic and Glutamatergic Nerve Endings 165
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 159
Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization 154
Endogenous sex hormones affect the mutagen-induced chromosome damage by altering a caffeine-sensitive checkpoint 142
Induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells in culture by pyrene and benzo[a]pyrene quinones. 142
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome 142
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis 141
Three-dimensional podocyte-endothelial cell co-cultures: Assembly, validation, and application to drug testing and intercellular signaling studies 140
A high resolution genetic map of mouse Chromosome 15 encompassing the Dominant megacolon (Dom) locus. 139
Group I metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis 139
The HIV-1 viral protein Tat modulates glutamate and GABA exocytosis from human and mouse neocortical nerve endings by acting at different binding sites. 137
Metabotropic glutamate receptor 5 as a potential target in ALS 135
C620R mutation of the murine ret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 134
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia 134
Type-1, but Not Type-5, Metabotropic Glutamate Receptors are Coupled to Polyphosphoinositide Hydrolysis in the Retina 133
cDNA sequence and genomic structure of the rat RET proto-oncogene. 132
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 132
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. 132
Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment 131
Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection. 129
Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease. 123
Low-copy repeats on chromosome 22q11.2 show replication timing switches, DNA flexibility peaks and stress inducible asynchrony, sharing instability features with fragile sites. 123
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. 121
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor. 121
mGluR1 and mGluR5 knock-down improves survival, motor skills and disease progression in amyotrophic lateral sclerosis mouse model 120
Permissive role for mGlu1 metabotropic glutamate receptors in excitotoxic retinal degeneration 120
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 120
A top-down linguistic approach to the analysis of genomic sequences: The metabotropic glutamate receptors 1 and 5 in human and in mouse as a case study. 117
Amyotrophic lateral sclerosis and excitotoxicity: role of Group I metabotropic glutamate receptors 117
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion 117
Targeting Group I Metabotropic Glutamate Receptors in Amyotrophic Lateral Sclerosis 116
Altered Proteomic Profile in Synaptic Endings from Brain Cortex of Grm1(crv4) Mice 116
HOX11L1, a gene involved in the Peripheral Nervous System development, maps to human chromosome 2p12-p13.1 and mouse chromosome 6C3-D1. 114
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances 114
Chromosomal fragile sites FRA3B and FRA16D show correlated expression and association with failure of apoptosis in lymphocytes from patients with thyroid cancer. 113
GroupI metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis 113
Group I metabotropic glutamate receptors tune excitotoxicity in amyotrophic lateral sclerosis 113
Albuminuria and glomerular damage in mice lacking the Metabotropic Glutamate Receptor Type 1 (GRM1). 113
Teaching molecular genetics: chapter 4-positional cloning of genetic disorders 113
GROUP I METABOTROPIC GLUTAMATE RECEPTORS AND NEUROTOXICITY IN AMYOTROPHIC LATERAL SCLEROSIS 111
Cell line-specific transcription rates of the RET gene and identification of functional domains in its minimal promoter. 109
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor 108
Knocking-down mGlu1 receptors prolongs survival and ameliorates disease progression in the SOD1/G93A mouse model of ALS. 108
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. 108
Frequency of cystic fibrosis mutations and associated haplotype distribution in Slovak CF patients. In L.-C. Tsui, G.Romeo, R.Greger, S.Gorini, Eds.: The identification of the CF gene: recent progress and new research strategies. 107
Preliminary results on the frequency of the deltaF508 mutation in cystic fibrosis patients from the USSR. 107
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1) 107
Nuclear run-on by biotin labelling, magnetic beads capture and fluorescent RT-PCR analysis of RNA. 107
Characterization of presynaptic mGLU1 and mGLU5 autoreceptors controlling glutamate release from mouse cortical nerve endings 106
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case 103
Abnormal glutamate release induced by group I metabotropic glutamate receptors in experimental ALS. 101
Genetic and pharmacological effects of mGlu5 receptor blockade in the SOD1G93A mouse model of amyotrophic lateral sclerosis 101
A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10 100
Targeting group i metabotropic glutamate receptors in experimental als. 100
The Modulation of Glutamate Release by Group I Metabotropic Glutamate Auto-Receptors in ALS 99
Knocking down mglu1 receptors prolongs survival and improves symptomatology in a mouse model of amyotrophic lateral sclerosis 99
Protective role for type-1 metabotropic glutamate receptors against spike and wave discharges in the WAG/Rij rat model of absence epilepsy. 98
Group I metabotropic glutamate receptors in ALS: knocking-down mGlu1 receptors ameliorates survival and disease progression in SOD1/G93A mice. 97
Group I metabotropic glutamate receptors modulate glutamate exocytosis in a mouse model of als 97
Knocking-down Group I metabotropic glutamate receptors ameliorates survival and disease progression in SOD1G93A mice. 96
FGF23 and Fetuin-A Interaction in the Liver and in the Circulation 96
null 96
Genetic inactivation of metabotropic glutamate 5 (mGlu5) receptor ameliorates motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 95
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 95
The HIV-1 Viral Protein Tat Increases Glutamate and Decreases GABA Exocytosis from Human and Mouse Neocortical Nerve Endings. The HIV-1 Viral Protein Tat Increases Glutamate and Decreases GABA Exocytosis from Human and Mouse Neocortical Nerve Endings. 94
The modulation of Glutamate release by Group I metabotropic Glutamate auto-receptors in ALS 94
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 93
Reducing the expression of mGlu1 and mGlu5 receptors ameliorates survival and disease progression in SOD1G93A mice 92
Expression of Tsga10 sperm tail protein in embryogenesis and neural development: From cilium to cell division 92
Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1 91
Glutamate and GABA exocytosis from human and mouse neocortical terminals are differently regulated by the HIV-1 viral protein Tat 91
Group I metabotropic glutamate receptors induce excessive glutamate release in the spinal cord of sod1g93a mice 91
Assignment of the mouse Gdnfra, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse Chromosome 19. 90
The HIV-1 viral protein TAT modulates glutamate and GABA exocytosis from human and mouse neocortical nerve endings 90
Inactivation of the Grm5 gene improves motor coordination defects in the Grm1crv4 mouse model of SCAR13 ataxia 90
Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptors J Pathol. 2011 Sep;225(1):118-28. 88
mGlu1 receptor and GABAB receptor heterodimerization in cortical nerve terminals. 88
Structure-activity relationship in the induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells by regioisomeric phenanthrene quinones. 88
Mapping and identification of a candidate gene for Hirschsprung disease:a review 87
Knocking-down mGluR1 and mGluR5 in SOD1G93A mice ameliorates survival and disease progression 87
The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population. 86
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. Molecular characterization of the region and family studies 86
Reducing excitotoxicity knocking down mGluR1: prolonged survival and improved symptomatology of SOD1/G93A mouse model of ALS 86
Genetic and pharmacological effects by blocking mGlu5 Receptor in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis 86
In-vitro and in-vivo studies depict metabotropic glutamate receptor 5 as a potential pharmacological target to modulate disease progression in ALS 86
The complex phenotype and function of spinal cord microglia during ALS progression and the impact of metabotropic glutamate receptor type 5 down-regulation in SOD1G93A mice 85
Partial deletion of mGluR1 receptors prolongs life span and ameliorates motor skills and biochemical and cellular parameters in a mouse model of experimental ALS 85
Group I metabotropic glutamate receptors in ALS: mGluR1 and mGluR5 autoreceptors induce excessive glutamate release in SOD1/G93A mice. 85
Correlated fragile site expression allows the identification of candidate fragile genes involved in immunity and associated with carcinogenesis. 84
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes 81
Genomic organization of the mouse Ret proto-oncogene. 79
A higher level of integration in the neuronal network of mouse cortex: the role of interaction between mGluR 1 heteroreceptors and GABAb autorecepetors 78
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 77
Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease. 76
Totale 11.310
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Categoria #
all - tutte 39.310
article - articoli 26.318
book - libri 0
conference - conferenze 12.992
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 78.620
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021449 0 0 0 29 37 48 58 70 65 62 47 33
2021/20221.213 15 91 70 137 47 90 63 289 64 107 58 182
2022/20231.224 118 95 37 122 166 185 7 96 213 5 156 24
2023/2024880 37 104 17 102 56 213 57 38 36 53 39 128
2024/20252.341 69 168 57 163 309 250 194 414 74 108 237 298
2025/20261.056 496 108 258 194 0 0 0 0 0 0 0 0
Totale 12.183