IRIS
PULITI, ALDAMARIA
 Distribuzione geografica
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Continente #
EU - Europa 9.150
Totale 9.150
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Nazione #
IT - Italia 9.150
Totale 9.150
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Città #
Genova 6.447
Genoa 1.102
Rapallo 1.011
Vado Ligure 574
Bordighera 16
Totale 9.150
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Nome #
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 164
In-vivo effects of knocking-down metabotropic glutamate receptor 5 in the SOD1G93A mouse model of amyotrophic lateral sclerosis. 161
In-vivo genetic ablation of metabotropic glutamate receptor type 5 slows down disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis 155
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. 146
Presynaptic mGlu1 Receptors Control GABAB Receptors in an Antagonist-Like Manner in Mouse Cortical GABAergic and Glutamatergic Nerve Endings 142
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 140
Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization 134
Induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells in culture by pyrene and benzo[a]pyrene quinones. 130
Assessment of copy number variations in 120 patients with Poland syndrome 129
The HIV-1 viral protein Tat modulates glutamate and GABA exocytosis from human and mouse neocortical nerve endings by acting at different binding sites. 125
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 124
Endogenous sex hormones affect the mutagen-induced chromosome damage by altering a caffeine-sensitive checkpoint 122
Group I metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis 122
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia 121
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 119
A high resolution genetic map of mouse Chromosome 15 encompassing the Dominant megacolon (Dom) locus. 116
Three-dimensional podocyte-endothelial cell co-cultures: Assembly, validation, and application to drug testing and intercellular signaling studies 116
Type-1, but Not Type-5, Metabotropic Glutamate Receptors are Coupled to Polyphosphoinositide Hydrolysis in the Retina 116
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. 115
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome 114
Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection. 112
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis 110
Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment 109
Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease. 108
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 108
Teaching molecular genetics: chapter 4-positional cloning of genetic disorders 108
Low-copy repeats on chromosome 22q11.2 show replication timing switches, DNA flexibility peaks and stress inducible asynchrony, sharing instability features with fragile sites. 106
cDNA sequence and genomic structure of the rat RET proto-oncogene. 104
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. 102
Permissive role for mGlu1 metabotropic glutamate receptors in excitotoxic retinal degeneration 102
Metabotropic glutamate receptor 5 as a potential target in ALS 99
C620R mutation of the murine ret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 98
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1) 98
mGluR1 and mGluR5 knock-down improves survival, motor skills and disease progression in amyotrophic lateral sclerosis mouse model 98
Nuclear run-on by biotin labelling, magnetic beads capture and fluorescent RT-PCR analysis of RNA. 98
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. 97
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. 97
GroupI metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis 97
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor. 93
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) 93
Preliminary results on the frequency of the deltaF508 mutation in cystic fibrosis patients from the USSR. 92
Knocking-down mGlu1 receptors prolongs survival and ameliorates disease progression in the SOD1/G93A mouse model of ALS. 92
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. 91
Cell line-specific transcription rates of the RET gene and identification of functional domains in its minimal promoter. 90
Targeting Group I Metabotropic Glutamate Receptors in Amyotrophic Lateral Sclerosis 90
Protective role for type-1 metabotropic glutamate receptors against spike and wave discharges in the WAG/Rij rat model of absence epilepsy. 89
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 88
Chromosomal fragile sites FRA3B and FRA16D show correlated expression and association with failure of apoptosis in lymphocytes from patients with thyroid cancer. 87
GROUP I METABOTROPIC GLUTAMATE RECEPTORS AND NEUROTOXICITY IN AMYOTROPHIC LATERAL SCLEROSIS 86
FGF23 and Fetuin-A Interaction in the Liver and in the Circulation 86
Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1 84
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor 84
Group I metabotropic glutamate receptors tune excitotoxicity in amyotrophic lateral sclerosis 84
Altered Proteomic Profile in Synaptic Endings from Brain Cortex of Grm1(crv4) Mice 84
Albuminuria and glomerular damage in mice lacking the Metabotropic Glutamate Receptor Type 1 (GRM1). 83
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion 83
Targeting group i metabotropic glutamate receptors in experimental als. 82
HOX11L1, a gene involved in the Peripheral Nervous System development, maps to human chromosome 2p12-p13.1 and mouse chromosome 6C3-D1. 81
Expression of Tsga10 sperm tail protein in embryogenesis and neural development: From cilium to cell division 81
Reducing the expression of mGlu1 and mGlu5 receptors ameliorates survival and disease progression in SOD1G93A mice 80
Mapping and identification of a candidate gene for Hirschsprung disease:a review 79
Amyotrophic lateral sclerosis and excitotoxicity: role of Group I metabotropic glutamate receptors 79
Knocking down mglu1 receptors prolongs survival and improves symptomatology in a mouse model of amyotrophic lateral sclerosis 79
The Modulation of Glutamate Release by Group I Metabotropic Glutamate Auto-Receptors in ALS 78
Group I metabotropic glutamate receptors in ALS: knocking-down mGlu1 receptors ameliorates survival and disease progression in SOD1/G93A mice. 77
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. Molecular characterization of the region and family studies 76
Characterization of presynaptic mGLU1 and mGLU5 autoreceptors controlling glutamate release from mouse cortical nerve endings 74
Genetic and pharmacological effects of mGlu5 receptor blockade in the SOD1G93A mouse model of amyotrophic lateral sclerosis 74
Structure-activity relationship in the induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells by regioisomeric phenanthrene quinones. 74
Partial deletion of mGluR1 receptors prolongs life span and ameliorates motor skills and biochemical and cellular parameters in a mouse model of experimental ALS 73
Group I metabotropic glutamate receptors induce excessive glutamate release in the spinal cord of sod1g93a mice 73
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. 72
Reducing excitotoxicity knocking down mGluR1: prolonged survival and improved symptomatology of SOD1/G93A mouse model of ALS 72
Glutamate and GABA exocytosis from human and mouse neocortical terminals are differently regulated by the HIV-1 viral protein Tat 72
Group I metabotropic glutamate receptors modulate glutamate exocytosis in a mouse model of als 70
A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10 70
Assignment of the mouse Gdnfra, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse Chromosome 19. 69
The HIV-1 viral protein TAT modulates glutamate and GABA exocytosis from human and mouse neocortical nerve endings 69
Inactivation of the Grm5 gene improves motor coordination defects in the Grm1crv4 mouse model of SCAR13 ataxia 69
Correlated fragile site expression allows the identification of candidate fragile genes involved in immunity and associated with carcinogenesis. 69
The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population. 68
Abnormal glutamate release induced by group I metabotropic glutamate receptors in experimental ALS. 68
The modulation of Glutamate release by Group I metabotropic Glutamate auto-receptors in ALS 66
Group I metabotropic glutamate receptors in ALS: mGluR1 and mGluR5 autoreceptors induce excessive glutamate release in SOD1/G93A mice. 64
Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease. 63
The modulation of Glutamate release by pre-synaptic Group I metabotropic Glutamate receptors in ALS 63
Genetic inactivation of metabotropic glutamate 5 (mGlu5) receptor ameliorates motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 63
Genomic organization of the mouse Ret proto-oncogene. 62
Genetic and pharmacological effects by blocking mGlu5 Receptor in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis 62
Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptors J Pathol. 2011 Sep;225(1):118-28. 61
Knocking-down mGluR1 and mGluR5 in SOD1G93A mice ameliorates survival and disease progression 61
Knocking-down Group I metabotropic glutamate receptors ameliorates survival and disease progression in SOD1G93A mice. 57
Phenotypic Characterization of Grm1crv4 Mice Reveals a Functional Role for the Type 1 Metabotropic Glutamate Receptor in the Skeleton 57
mGlu1 receptor and GABAB receptor heterodimerization in cortical nerve terminals. 56
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 54
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung 52
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 50
In-vitro and in-vivo studies depict metabotropic glutamate receptor 5 as a potential pharmacological target to modulate disease progression in ALS 45
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 45
Metabotropic glutamate receptor type 5 effects on ALS progression 44
Totale 8.994
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Categoria #
all - tutte 28.643
article - articoli 19.606
book - libri 0
conference - conferenze 9.037
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 57.286
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.827 0 0 0 0 177 237 327 128 187 429 266 76
2020/2021630 33 61 87 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
2024/2025608 69 168 57 163 151 0 0 0 0 0 0 0
Totale 9.394