140 results on '"Musante, Ilaria"'
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2. De novo variants in DENND5B cause a neurodevelopmental disorder
3. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
4. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
5. Combination potentiator ('co-potentiator') therapy for CF caused by CFTR mutants, including N1303K, that are poorly responsive to single potentiators.
6. Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations
7. De novo variants in DENND5B cause a neurodevelopmental disorder
8. Furocoumarins as multi-target agents in the treatment of cystic fibrosis
9. Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
10. Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes
11. Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization
12. Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons
13. KCa3.1 differentially regulates trachea and bronchi epithelial gene expression in a chronic-asthma mouse model
14. In-vivo effects of knocking-down metabotropic glutamate receptor 5 in the SOD1G93A mouse model of amyotrophic lateral sclerosis
15. A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
16. Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome
17. Additional file 1 of Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
18. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
19. Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene
20. Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation
21. HETEROCYCLIC COMPOUNDS AND MEDICAL USE THEREOF
22. Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment
23. Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits
24. Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders
25. Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells
26. Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2
27. Peripheral localization of the epithelial sodium channel in the apical membrane of bronchial epithelial cells
28. Two CFTR mutations within codon 970 differently impact on the chloride channel functionality
29. The Autophagy Inhibitor Spautin-1 Antagonizes Rescue of Mutant CFTR Through an Autophagy-Independent and USP13-Mediated Mechanism
30. Genetic inactivation of metabotropic glutamate 5 (mGlu5) receptor ameliorates motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia
31. Inactivation of the Grm5 gene improves motor coordination defects in the Grm1crv4 mouse model of SCAR13 ataxia
32. Increased expression of ATP12A proton pump in cystic fibrosis airways
33. Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1 mouse model of SCAR13 ataxia
34. Additional file 2: of Assessment of copy number variations in 120 patients with Poland syndrome
35. Phenotypic characterization of Grm1 crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization
36. Intermolecular Interactions in the TMEM16A Dimer Controlling Channel Activity
37. GROUP I METABOTROPIC GLUTAMATE RECEPTORS AND NEUROTOXICITY IN AMYOTROPHIC LATERAL SCLEROSIS
38. Group I metabotropic glutamate receptors tune excitotoxicity in amyotrophic lateral sclerosis
39. mGluR1 and mGluR5 knock-down improves survival, motor skills and disease progression in amyotrophic lateral sclerosis mouse model
40. Knocking-down mGluR1 and mGluR5 in the SOD1/G93A mouse model of amyotrophic lateral sclerosis ameliorates survival and disease progression
41. Phenotypic Characterization of Grm1crv4 Mice Reveals a Functional Role for the Type 1 Metabotropic Glutamate Receptor in the Skeleton
42. Reducing the expression of mGlu1 and mGlu5 receptors ameliorates survival and disease progression in SOD1G93A mice
43. Assessment of copy number variations in 120 patients with Poland syndrome
44. Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release
45. Amyotrophic lateral sclerosis and excitotoxicity: role of Group I metabotropic glutamate receptors
46. Knocking down mglu1 receptors prolongs survival and improves symptomatology in a mouse model of amyotrophic lateral sclerosis
47. Group I metabotropic glutamate receptors in ALS: knocking-down mGlu1 receptors ameliorates survival and disease progression in SOD1/G93A mice
48. Targeting group i metabotropic glutamate receptors in experimental als
49. Reducing excitotoxicity knocking down mGluR1: prolonged survival and improved symptomatology of SOD1/G93A mouse model of ALS
50. Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor
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