710 results on '"Sue, Carolyn M."'
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2. Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
3. NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions
4. Genome sequencing reanalysis increases the diagnostic yield in dystonia
5. The pathogenesis of Parkinson's disease
6. Clinical drivers of hospitalisation in patients with mitochondrial diseases
7. Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.
8. Strong Predictive Algorithm of Pathogenesis-Based Biomarkers Improves Parkinson’s Disease Diagnosis
9. The impact of device-assisted therapies on the gut microbiome in Parkinson’s disease
10. Mitochondrial disease in adults: recent advances and future promise
11. Depression in Parkinson's disease: Perspectives from an Australian cohort
12. Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia
13. Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays
14. Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review
15. 2622 Refining a hereditary spastic paraplegia quality of life (HSPQoL) rating scale using consumer consultation
16. 14 Peripheral blood mononuclear cells from patients withSPASThereditary spastic paraplegia (HSP-SPAST) show disease-associated effect of reduced acetylated α-tubulin
17. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
18. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
19. Gastrointestinal dysfunction in Parkinson’s disease
20. Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing
21. EPG5 -Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
22. SUE, Carolyn: Sydney/Australia
23. Outcome measures for hereditary spastic paraplegia clinical trials: Learnings from an Australian HSP center
24. Maximizing benefits of the levodopa/carbidopa intestinal gel: Systematic considerations, challenging convention and individualizing approaches
25. Genetic Testing in Parkinson's Disease
26. Generation of human-induced pluripotent-stem-cell-derived cortical neurons for high-throughput imaging of neurite morphology and neuron maturation
27. High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia
28. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
29. Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs
30. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
31. Towards the optimal care of Parkinson's disease: A guide for GPs.
32. Serum FGF-21, GDF-15, and blood mtDNA copy number are not biomarkers of Parkinson disease
33. Movement disorders in mitochondrial disease
34. Low disease risk and penetrance in Leber hereditary optic neuropathy
35. Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
36. Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models
37. Functional hyperspectral imaging captures subtle details of cell metabolism in olfactory neurosphere cells, disease-specific models of neurodegenerative disorders
38. Additional file 1 of NEMoE: a nutrition aware regularized mixture of experts model to identify heterogeneous diet-microbiome-host health interactions
39. Additional file 1 of Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
40. Mitochondrial diseases
41. Systematic review of cardiac electrical disease in Kearns–Sayre syndrome and mitochondrial cytopathy
42. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
43. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
44. PINK1 signalling in neurodegenerative disease
45. Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
46. The Gut Microbiome in Parkinson’s Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies
47. Nutritional Intake and Gut Microbiome Composition Predict Parkinson’s Disease
48. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
49. Practical approaches to commencing device‐assisted therapies for Parkinson disease in Australia
50. Mitochondrial Dysfunction in Parkinson’s Disease: New Mechanistic Insights and Therapeutic Perspectives
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