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329 results on '"Kevin Talbot"'

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1. ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes

2. The Basis of Cognitive and Behavioral Dysfunction in Amyotrophic Lateral Sclerosis

3. Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia

5. Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD

6. PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice

7. C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

8. Profiling non-coding RNA expression in cerebrospinal fluid of amyotrophic lateral sclerosis patients

9. Human iPSC co-culture model to investigate the interaction between microglia and motor neurons

10. Hyperexcitability in young iPSC-derived C9ORF72 mutant motor neurons is associated with increased intracellular calcium release

11. Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

12. Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

13. A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3

14. Modeling seeding and neuroanatomic spread of pathology in amyotrophic lateral sclerosis

15. CSF chitinases before and after symptom onset in amyotrophic lateral sclerosis

16. Quantitative patterns of motor cortex proteinopathy across ALS genotypes

18. Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

19. The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS

20. Network Analysis of the CSF Proteome Characterizes Convergent Pathways of Cellular Dysfunction in ALS

21. An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress

23. Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes

24. Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

25. Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral SclerosisResearch in context

26. Therapeutic strategies for spinal muscular atrophy: SMN and beyond

27. Defective cholesterol metabolism in amyotrophic lateral sclerosis

28. Interaction of Axonal Chondrolectin with Collagen XIXa1 Is Necessary for Precise Neuromuscular Junction Formation

29. ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons

30. Neurotrophic Properties of C-Terminal Domain of the Heavy Chain of Tetanus Toxin on Motor Neuron Disease

31. DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis – a randomised controlled trial

32. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

33. Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model

34. An eye-tracking version of the trail-making test.

35. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.

36. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy.

39. Limited value of serum neurofilament light chain in diagnosing amyotrophic lateral sclerosis

40. Creatine kinase and prognosis in amyotrophic lateral sclerosis: a literature review and multi-centre cohort analysis

41. Poly(ADP-ribose) promotes toxicity of

43. Pathological laughter and crying in neurological disorders: recognition and treatment

44. Stress granule assembly in vivo is deficient in the CNS of mutant TDP-43 ALS mice

45. Targeting phosphoglycerate kinase 1 with terazosin improves motor neuron phenotypes in multiple models of amyotrophic lateral sclerosis

46. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

47. Motor Neuron Disease Register for England, Wales and Northern Ireland—an analysis of incidence in England

48. CSF chitinases before and after symptom onset in amyotrophic lateral sclerosis

49. Quantitative patterns of motor cortex proteinopathy across ALS genotypes

50. Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain

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