184 results on '"Manzini, M. Chiara"'
Search Results
2. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
3. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
4. Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function
5. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
6. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
7. A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A
8. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
9. De novo and biallelic DEAF1 variants cause a phenotypic spectrum
10. Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability
11. Standardization of zebrafish drug testing parameters for muscle diseases
12. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
13. Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain
14. Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.
15. Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry
16. Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex
17. Removal ofpomt1in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes
18. Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function
19. Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
20. Cc2d1b Contributes to the Regulation of Developmental Myelination in the Central Nervous System
21. What disorders of cortical development tell us about the cortex: one plus one does not always make two
22. Capillary Electrophoresis Mass Spectrometry for Scalable Single-Cell Proteomics
23. The Genetics of Brain Malformations
24. Unraveling the mysteries of MYT1L: From reprogramming factor to multifaceted regulator of neuronal differentiation
25. Data-Dependent Acquisition Ladder for Capillary Electrophoresis Mass Spectrometry-Based Ultrasensitive (Neuro)Proteomics
26. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
27. Digging behavior discrimination test to probe burrowing and exploratory digging in male and female mice
28. Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development
29. Digging behavior discrimination test to probe burrowing and exploratory digging in male and female mice
30. Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy
31. Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation inTBCK
32. Male-Specific Intracellular Signaling in Sex-Bias in Neurodevelopmental Disorders
33. Cell-based analysis ofCADvariants identifies individuals likely to benefit from uridine therapy
34. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
35. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
36. Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders
37. Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
38. Microsampling Capillary Electrophoresis Mass Spectrometry Enables Single-Cell Proteomics in Complex Tissues: Developing Cell Clones in Live Xenopus laevis and Zebrafish Embryos
39. Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2
40. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
41. Molecular causes of sex‐specific deficits in rodent models of neurodevelopmental disorders.
42. Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity
43. Male-specific CREB signaling in the hippocampus controls spatial memory deficits in a mouse model of autism and intellectual disability
44. Translating genetic and preclinical findings into autism therapies
45. Loss of the intellectual disability and autism gene Cc2d1a and its homolog Cc2d1b differentially affect spatial memory, anxiety, and hyperactivity
46. Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry
47. Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior
48. Cell-based analysis of CADvariants identifies individuals likely to benefit from uridine therapy
49. CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis
50. Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex
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