IRIS
PULITI, ALDAMARIA
 Distribuzione geografica
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Continente #
EU - Europa 8.793
Totale 8.793
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Nazione #
IT - Italia 8.793
Totale 8.793
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Città #
Genova 6.447
Genoa 1.102
Rapallo 1.011
Vado Ligure 217
Bordighera 16
Totale 8.793
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Nome #
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 160
In-vivo effects of knocking-down metabotropic glutamate receptor 5 in the SOD1G93A mouse model of amyotrophic lateral sclerosis. 159
In-vivo genetic ablation of metabotropic glutamate receptor type 5 slows down disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis 152
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. 142
Presynaptic mGlu1 Receptors Control GABAB Receptors in an Antagonist-Like Manner in Mouse Cortical GABAergic and Glutamatergic Nerve Endings 141
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 138
Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization 132
Induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells in culture by pyrene and benzo[a]pyrene quinones. 129
Assessment of copy number variations in 120 patients with Poland syndrome 126
The HIV-1 viral protein Tat modulates glutamate and GABA exocytosis from human and mouse neocortical nerve endings by acting at different binding sites. 121
Endogenous sex hormones affect the mutagen-induced chromosome damage by altering a caffeine-sensitive checkpoint 120
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 120
Group I metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis 119
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia 118
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 116
A high resolution genetic map of mouse Chromosome 15 encompassing the Dominant megacolon (Dom) locus. 114
Type-1, but Not Type-5, Metabotropic Glutamate Receptors are Coupled to Polyphosphoinositide Hydrolysis in the Retina 114
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. 112
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome 111
Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection. 110
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. 107
Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease. 106
Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment 106
cDNA sequence and genomic structure of the rat RET proto-oncogene. 102
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis 102
Three-dimensional podocyte-endothelial cell co-cultures: Assembly, validation, and application to drug testing and intercellular signaling studies 102
Low-copy repeats on chromosome 22q11.2 show replication timing switches, DNA flexibility peaks and stress inducible asynchrony, sharing instability features with fragile sites. 101
Permissive role for mGlu1 metabotropic glutamate receptors in excitotoxic retinal degeneration 101
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. 100
Teaching molecular genetics: chapter 4-positional cloning of genetic disorders 99
Nuclear run-on by biotin labelling, magnetic beads capture and fluorescent RT-PCR analysis of RNA. 97
crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1) 96
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. 96
mGluR1 and mGluR5 knock-down improves survival, motor skills and disease progression in amyotrophic lateral sclerosis mouse model 96
C620R mutation of the murine ret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 95
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. 94
GroupI metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis 93
Preliminary results on the frequency of the deltaF508 mutation in cystic fibrosis patients from the USSR. 92
Metabotropic glutamate receptor 5 as a potential target in ALS 91
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor. 90
Knocking-down mGlu1 receptors prolongs survival and ameliorates disease progression in the SOD1/G93A mouse model of ALS. 90
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) 89
Cell line-specific transcription rates of the RET gene and identification of functional domains in its minimal promoter. 88
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. 88
Targeting Group I Metabotropic Glutamate Receptors in Amyotrophic Lateral Sclerosis 88
Protective role for type-1 metabotropic glutamate receptors against spike and wave discharges in the WAG/Rij rat model of absence epilepsy. 88
Chromosomal fragile sites FRA3B and FRA16D show correlated expression and association with failure of apoptosis in lymphocytes from patients with thyroid cancer. 85
GROUP I METABOTROPIC GLUTAMATE RECEPTORS AND NEUROTOXICITY IN AMYOTROPHIC LATERAL SCLEROSIS 84
Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1 83
FGF23 and Fetuin-A Interaction in the Liver and in the Circulation 83
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 82
Altered Proteomic Profile in Synaptic Endings from Brain Cortex of Grm1(crv4) Mice 82
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor 81
HOX11L1, a gene involved in the Peripheral Nervous System development, maps to human chromosome 2p12-p13.1 and mouse chromosome 6C3-D1. 81
Group I metabotropic glutamate receptors tune excitotoxicity in amyotrophic lateral sclerosis 81
Targeting group i metabotropic glutamate receptors in experimental als. 81
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion 81
Reducing the expression of mGlu1 and mGlu5 receptors ameliorates survival and disease progression in SOD1G93A mice 77
Amyotrophic lateral sclerosis and excitotoxicity: role of Group I metabotropic glutamate receptors 77
Albuminuria and glomerular damage in mice lacking the Metabotropic Glutamate Receptor Type 1 (GRM1). 77
Expression of Tsga10 sperm tail protein in embryogenesis and neural development: From cilium to cell division 77
Mapping and identification of a candidate gene for Hirschsprung disease:a review 76
Knocking down mglu1 receptors prolongs survival and improves symptomatology in a mouse model of amyotrophic lateral sclerosis 76
Total colonic aganglionosis associated with an interstitial deletion of the long arm of chromosome 10. Molecular characterization of the region and family studies 75
The Modulation of Glutamate Release by Group I Metabotropic Glutamate Auto-Receptors in ALS 74
Group I metabotropic glutamate receptors in ALS: knocking-down mGlu1 receptors ameliorates survival and disease progression in SOD1/G93A mice. 72
Structure-activity relationship in the induction of chromosomal aberrations and spindle disturbances in Chinese hamster epithelial liver cells by regioisomeric phenanthrene quinones. 72
Characterization of presynaptic mGLU1 and mGLU5 autoreceptors controlling glutamate release from mouse cortical nerve endings 71
Reducing excitotoxicity knocking down mGluR1: prolonged survival and improved symptomatology of SOD1/G93A mouse model of ALS 71
Partial deletion of mGluR1 receptors prolongs life span and ameliorates motor skills and biochemical and cellular parameters in a mouse model of experimental ALS 70
Glutamate and GABA exocytosis from human and mouse neocortical terminals are differently regulated by the HIV-1 viral protein Tat 70
Group I metabotropic glutamate receptors induce excessive glutamate release in the spinal cord of sod1g93a mice 70
Assignment of the mouse Gdnfra, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse Chromosome 19. 68
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. 67
The HIV-1 viral protein TAT modulates glutamate and GABA exocytosis from human and mouse neocortical nerve endings 67
A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10 67
The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population. 66
Group I metabotropic glutamate receptors modulate glutamate exocytosis in a mouse model of als 66
Genetic and pharmacological effects of mGlu5 receptor blockade in the SOD1G93A mouse model of amyotrophic lateral sclerosis 66
Correlated fragile site expression allows the identification of candidate fragile genes involved in immunity and associated with carcinogenesis. 66
Group I metabotropic glutamate receptors in ALS: mGluR1 and mGluR5 autoreceptors induce excessive glutamate release in SOD1/G93A mice. 63
Inactivation of the Grm5 gene improves motor coordination defects in the Grm1crv4 mouse model of SCAR13 ataxia 63
The modulation of Glutamate release by Group I metabotropic Glutamate auto-receptors in ALS 63
Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease. 62
The modulation of Glutamate release by pre-synaptic Group I metabotropic Glutamate receptors in ALS 61
Genomic organization of the mouse Ret proto-oncogene. 60
Abnormal glutamate release induced by group I metabotropic glutamate receptors in experimental ALS. 60
Genetic and pharmacological effects by blocking mGlu5 Receptor in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis 60
Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptors J Pathol. 2011 Sep;225(1):118-28. 59
Genetic inactivation of metabotropic glutamate 5 (mGlu5) receptor ameliorates motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia 59
Knocking-down Group I metabotropic glutamate receptors ameliorates survival and disease progression in SOD1G93A mice. 56
Phenotypic Characterization of Grm1crv4 Mice Reveals a Functional Role for the Type 1 Metabotropic Glutamate Receptor in the Skeleton 54
mGlu1 receptor and GABAB receptor heterodimerization in cortical nerve terminals. 54
Mappatura e clonaggio di geni che causano malattie congenite frequenti ad ereditarietà complessa: il caso della malattia di Hirschsprung 51
Knocking-down mGluR1 and mGluR5 in SOD1G93A mice ameliorates survival and disease progression 51
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 48
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 45
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 42
In-vitro and in-vivo studies depict metabotropic glutamate receptor 5 as a potential pharmacological target to modulate disease progression in ALS 41
Sequence and characterization of the Ret proto-oncogene 5’ flanking region: analysis of retinoic acid responsiveness at the transcriptional level 40
Totale 8.685
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Categoria #
all - tutte 26.640
article - articoli 18.339
book - libri 0
conference - conferenze 8.301
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 53.280
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.066 0 0 131 108 177 237 327 128 187 429 266 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
2024/2025251 69 168 14 0 0 0 0 0 0 0 0 0
Totale 9.037