148 results on '"Gold, Wendy"'
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2. Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome
3. The neuroprotective effects of estrogen and estrogenic compounds in spinal cord injury
4. Artificial intelligence-driven meta-analysis of brain gene expression identifies novel gene candidates and a role for mitochondria in Alzheimer’s disease
5. Emerging evidence of Toll-like receptors as a putative pathway linking maternal inflammation and neurodevelopmental disorders in human offspring: A systematic review
6. Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome
7. Maternal autoimmunity and inflammation are associated with childhood tics and obsessive-compulsive disorder: Transcriptomic data show common enriched innate immune pathways
8. Blood-Based Transcriptomic Biomarkers Are Predictive of Neurodegeneration Rather Than Alzheimer’s Disease
9. Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
10. A simple and efficient toolset for analysing mitochondrial trafficking in neuronal cells
11. Maternal acute and chronic inflammation in pregnancy is associated with common neurodevelopmental disorders: a systematic review
12. Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing
13. P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers
14. Common targetable inflammatory pathways in brain transcriptome of autism spectrum disorders and Tourette syndrome
15. The neuroprotective effects of estrogen and estrogenic compounds in spinal cord injury
16. Meta-Analysis Identifies BDNF and Novel Common Genes Differently Altered in Cross-Species Models of Rett Syndrome
17. Gene Editing and Rett Syndrome: Does It Make the Cut?
18. Meta-Analysis Identifies Novel Common Genes Differently Altered in Cross-Species Models of Rett Syndrome
19. Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
20. Artificial intelligence-driven meta-analysis of brain gene expression identifies novel gene candidates and a role for mitochondria in Alzheimer’s Disease
21. Brain Transcriptome of Autism Spectrum Disorders and Tourette Syndrome Defines Common Targetable Inflammatory Pathways Involving Cytokines, Complement, and Kinase Signalling
22. WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome
23. Anti-Semaphorin 4D Rescues Motor, Cognitive, and Respiratory Phenotypes in a Rett Syndrome Mouse Model
24. Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models
25. A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain
26. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
27. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
28. Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview
29. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)
30. Breaking Boundaries in the Brain—Advances in Editing Tools for Neurogenetic Disorders
31. An innovative collaborative approach towards the development of gene therapies for rare and ultra-rare genetic disorders of the CNS
32. Cover, Volume 41, Issue 10
33. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )
34. High-Throughput In Vitro, Ex Vivo, and In Vivo Screen of Adeno-Associated Virus Vectors Based on Physical and Functional Transduction
35. Front Cover, Volume 40, Issue 12
36. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
37. Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets
38. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
39. Rett Syndrome: A Genetic Update and Clinical Review Focusing on Comorbidities
40. Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease
41. Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
42. A novel mutation inGMPPAin siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction
43. Maternal thyroid autoimmunity associated with acute-onset neuropsychiatric disorders and global regression in offspring.
44. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
45. Pathogenicity of C-terminal mutations in CDKL5
46. The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome
47. Characterisation of inflammatory markers and the Th1/Th2 response in localized scleroderma
48. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
49. Faculty Opinions recommendation of MeCP2 deficiency is associated with impaired microtubule stability.
50. Faculty Opinions recommendation of Inhibition of HDAC6 deacetylase activity increases its binding with microtubules and suppresses microtubule dynamic instability in MCF-7 cells.
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