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